diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
index 6e8af8ca..443cec4b 100644
--- a/data/STRchive-citations.json
+++ b/data/STRchive-citations.json
@@ -384,12 +384,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:24763282"
 },
-{
-  "id": "pmid:39313615",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/39313615",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:39313615']' timed out after 3 seconds"
-},
 {
   "id": "pmid:11436124",
   "manubot_success": true,
@@ -5465,12 +5459,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34179866"
 },
-{
-  "id": "pmid:25101480",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:37810464",
   "manubot_success": true,
@@ -6636,12 +6624,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:36977684"
 },
-{
-  "id": "pmid:29939637",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:1683708",
   "manubot_success": true,
@@ -8313,12 +8295,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31539032"
 },
-{
-  "id": "pmid:39666847",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:38973251",
   "manubot_success": true,
@@ -17694,12 +17670,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12478141"
 },
-{
-  "id": "pmid:12404104",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/12404104",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:12404104']' timed out after 3 seconds"
-},
 {
   "id": "pmid:12388541",
   "manubot_success": true,
@@ -39168,12 +39138,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23828024"
 },
-{
-  "id": "pmid:23197655",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/23197655",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:23197655']' timed out after 3 seconds"
-},
 {
   "id": "pmid:23064575",
   "manubot_success": true,
@@ -57568,12 +57532,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29859640"
 },
-{
-  "id": "pmid:29855382",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/29855382",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29855382']' timed out after 3 seconds"
-},
 {
   "id": "pmid:29761121",
   "manubot_success": true,
@@ -63311,12 +63269,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25835037"
 },
-{
-  "id": "pmid:25795648",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/25795648",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:25795648']' timed out after 3 seconds"
-},
 {
   "id": "pmid:25791939",
   "manubot_success": true,
@@ -68603,12 +68555,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22964911"
 },
-{
-  "id": "pmid:22936364",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/22936364",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:22918453",
   "manubot_success": true,
@@ -68660,12 +68606,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22898310"
 },
-{
-  "id": "pmid:22892647",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/22892647",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:22878164",
   "manubot_success": true,
@@ -70532,12 +70472,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34371182"
 },
-{
-  "id": "pmid:33121221",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/33121221",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33121221']' timed out after 3 seconds"
-},
 {
   "id": "pmid:32888184",
   "manubot_success": true,
@@ -70593,12 +70527,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:30078120"
 },
-{
-  "id": "pmid:29367260",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/29367260",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:28946818",
   "manubot_success": true,
@@ -76231,12 +76159,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39679849"
 },
-{
-  "id": "pmid:39492694",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/39492694",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:39492694']' timed out after 3 seconds"
-},
 {
   "id": "pmid:39433769",
   "manubot_success": true,
@@ -77345,12 +77267,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34025359"
 },
-{
-  "id": "pmid:33682722",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/33682722",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:33624941",
   "manubot_success": true,
@@ -78446,12 +78362,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29274549"
 },
-{
-  "id": "pmid:29246312",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/29246312",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29246312']' timed out after 3 seconds"
-},
 {
   "id": "pmid:29114849",
   "manubot_success": true,
@@ -79717,12 +79627,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20179953"
 },
-{
-  "id": "pmid:20171614",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/20171614",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:20171614']' timed out after 3 seconds"
-},
 {
   "id": "pmid:20074967",
   "manubot_success": true,
@@ -84425,12 +84329,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:40141297"
 },
-{
-  "id": "pmid:39934227",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/39934227",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:39934227']' timed out after 3 seconds"
-},
 {
   "id": "pmid:39839505",
   "manubot_success": true,
@@ -84591,12 +84489,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39482338"
 },
-{
-  "id": "pmid:39488698",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/39488698",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:39488698']' timed out after 3 seconds"
-},
 {
   "id": "pmid:39095619",
   "manubot_success": true,
@@ -85732,12 +85624,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34938155"
 },
-{
-  "id": "pmid:34926684",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/34926684",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34926684']' timed out after 3 seconds"
-},
 {
   "id": "pmid:34924936",
   "manubot_success": true,
@@ -85906,12 +85792,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34679478"
 },
-{
-  "id": "pmid:34646309",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/34646309",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34646309']' timed out after 3 seconds"
-},
 {
   "id": "pmid:34641814",
   "manubot_success": true,
@@ -86083,12 +85963,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34321326"
 },
-{
-  "id": "pmid:34296199",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/34296199",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:34296199']' timed out after 3 seconds"
-},
 {
   "id": "pmid:34276797",
   "manubot_success": true,
@@ -86256,12 +86130,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34046842"
 },
-{
-  "id": "pmid:33998336",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/33998336",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33998336']' timed out after 3 seconds"
-},
 {
   "id": "pmid:33856019",
   "manubot_success": true,
@@ -86442,12 +86310,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33627639"
 },
-{
-  "id": "pmid:33585555",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/33585555",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33585555']' timed out after 3 seconds"
-},
 {
   "id": "pmid:33523882",
   "manubot_success": true,
@@ -86621,12 +86483,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33181255"
 },
-{
-  "id": "pmid:33151065",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/33151065",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:33151065']' timed out after 3 seconds"
-},
 {
   "id": "pmid:33039683",
   "manubot_success": true,
@@ -94196,12 +94052,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17089161"
 },
-{
-  "id": "pmid:17044853",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/17044853",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:17044853']' timed out after 3 seconds"
-},
 {
   "id": "pmid:16780889",
   "manubot_success": true,
@@ -96595,12 +96445,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8636996"
 },
-{
-  "id": "pmid:8664297",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/8664297",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8664297']' timed out after 3 seconds"
-},
 {
   "id": "pmid:8644711",
   "manubot_success": true,
@@ -99862,12 +99706,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29070698"
 },
-{
-  "id": "pmid:28904984",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/28904984",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:28904984']' timed out after 3 seconds"
-},
 {
   "id": "pmid:28812047",
   "manubot_success": true,
@@ -100023,12 +99861,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27668106"
 },
-{
-  "id": "pmid:27648458",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/27648458",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:27648458']' timed out after 3 seconds"
-},
 {
   "id": "pmid:27644330",
   "manubot_success": true,
@@ -102337,12 +102169,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17024371"
 },
-{
-  "id": "pmid:16989817",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/16989817",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:16989817']' timed out after 3 seconds"
-},
 {
   "id": "pmid:16919418",
   "manubot_success": true,
@@ -104498,12 +104324,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41418088"
 },
-{
-  "id": "pmid:41389205",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/41389205",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:41389205']' timed out after 3 seconds"
-},
 {
   "id": "pmid:41361856",
   "manubot_success": true,
@@ -122564,12 +122384,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22367996"
 },
-{
-  "id": "pmid:22359536",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/22359536",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:22359536']' timed out after 3 seconds"
-},
 {
   "id": "pmid:22323755",
   "manubot_success": true,
@@ -124721,12 +124535,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19455596"
 },
-{
-  "id": "pmid:19270701",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/19270701",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:19270701']' timed out after 3 seconds"
-},
 {
   "id": "pmid:19266143",
   "manubot_success": true,
@@ -126666,12 +126474,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17307423"
 },
-{
-  "id": "pmid:17299512",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/17299512",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:17299512']' timed out after 3 seconds"
-},
 {
   "id": "pmid:17293170",
   "manubot_success": true,
@@ -126762,12 +126564,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17181545"
 },
-{
-  "id": "pmid:17174018",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/17174018",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:17174018']' timed out after 3 seconds"
-},
 {
   "id": "pmid:17115386",
   "manubot_success": true,
@@ -130385,12 +130181,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:11009201"
 },
-{
-  "id": "pmid:10980573",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/10980573",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:10980573']' timed out after 3 seconds"
-},
 {
   "id": "pmid:10964480",
   "manubot_success": true,
@@ -132305,12 +132095,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8931689"
 },
-{
-  "id": "pmid:8898202",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/8898202",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8898202']' timed out after 3 seconds"
-},
 {
   "id": "pmid:8855141",
   "manubot_success": true,
@@ -132514,12 +132298,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8606810"
 },
-{
-  "id": "pmid:8714530",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/8714530",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:8614526",
   "manubot_success": true,
@@ -132627,12 +132405,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8766138"
 },
-{
-  "id": "pmid:8572659",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/8572659",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8572659']' timed out after 3 seconds"
-},
 {
   "id": "pmid:8804464",
   "manubot_success": true,
@@ -132852,12 +132624,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7484060"
 },
-{
-  "id": "pmid:7480359",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/7480359",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:7480359']' timed out after 3 seconds"
-},
 {
   "id": "pmid:7774020",
   "manubot_success": true,
@@ -133048,12 +132814,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7881406"
 },
-{
-  "id": "pmid:7969980",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/7969980",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:7969980']' timed out after 3 seconds"
-},
 {
   "id": "pmid:7959696",
   "manubot_success": true,
@@ -133258,12 +133018,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8162059"
 },
-{
-  "id": "pmid:8162053",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/8162053",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:8162053']' timed out after 3 seconds"
-},
 {
   "id": "pmid:8044653",
   "manubot_success": true,
@@ -134193,12 +133947,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33040085"
 },
-{
-  "id": "pmid:",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/",
-  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
-},
 {
   "id": "pmid:40244446",
   "manubot_success": true,
@@ -134428,12 +134176,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:37316299"
 },
-{
-  "id": "pmid:35982790",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/35982790",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:35982790']' timed out after 3 seconds"
-},
 {
   "id": "pmid:35497811",
   "manubot_success": true,
@@ -140616,12 +140358,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31886491"
 },
-{
-  "id": "pmid:31819945",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/31819945",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:31819945']' timed out after 3 seconds"
-},
 {
   "id": "pmid:31433517",
   "manubot_success": true,
@@ -140860,12 +140596,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39113268"
 },
-{
-  "id": "pmid:38165364",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/38165364",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:38165364']' timed out after 3 seconds"
-},
 {
   "id": "pmid:37698929",
   "manubot_success": true,
@@ -141071,12 +140801,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28361972"
 },
-{
-  "id": "pmid:27980005",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/27980005",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:27980005']' timed out after 3 seconds"
-},
 {
   "id": "pmid:26428746",
   "manubot_success": true,
@@ -141259,12 +140983,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:21316245"
 },
-{
-  "id": "pmid:19641605",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/19641605",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:19641605']' timed out after 3 seconds"
-},
 {
   "id": "pmid:19101703",
   "manubot_success": true,
@@ -141412,12 +141130,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16642034"
 },
-{
-  "id": "pmid:16481821",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/16481821",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:16481821']' timed out after 3 seconds"
-},
 {
   "id": "pmid:16378590",
   "manubot_success": true,
@@ -143984,12 +143696,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32283749"
 },
-{
-  "id": "pmid:32281848",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/32281848",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:32281848']' timed out after 3 seconds"
-},
 {
   "id": "pmid:30622881",
   "manubot_success": true,
@@ -154206,12 +153912,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12604405"
 },
-{
-  "id": "pmid:12460463",
-  "manubot_success": false,
-  "link": "https://pubmed.ncbi.nlm.nih.gov/12460463",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:12460463']' timed out after 3 seconds"
-},
 {
   "id": "pmid:12232785",
   "manubot_success": true,
@@ -155300,234 +155000,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: MONDO:0005258"
 },
-{
-  "id": "omim:309548",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/309548",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
-},
-{
-  "id": "omim:309510",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/309510",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
-},
-{
-  "id": "omim:308350",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/308350",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
-},
-{
-  "id": "omim:300004",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/300004",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
-},
-{
-  "id": "omim:300215",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/300215",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
-},
-{
-  "id": "omim:183090",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/183090",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
-},
-{
-  "id": "omim:164500",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/164500",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
-},
-{
-  "id": "omim:608768",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/608768",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
-},
-{
-  "id": "omim:117210",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/117210",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/117210. Skipping"
-},
-{
-  "id": "omim:105500",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/105500",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/105500. Skipping"
-},
-{
-  "id": "omim:147791",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/147791",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
-},
-{
-  "id": "omim:615945",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/615945",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
-},
-{
-  "id": "omim:136630",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/136630",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/136630. Skipping"
-},
-{
-  "id": "omim:229300",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/229300",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/229300. Skipping"
-},
-{
-  "id": "omim:618940",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/618940",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/618940. Skipping"
-},
-{
-  "id": "omim:618412",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/618412",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/618412. Skipping"
-},
-{
-  "id": "omim:186000",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/186000",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/186000. Skipping"
-},
-{
-  "id": "omim:164310",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/164310",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/164310. Skipping"
-},
-{
-  "id": "omim:613608",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/613608",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
-},
-{
-  "id": "omim:609893",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/609893",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/609893. Skipping"
-},
-{
-  "id": "omim:105400",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/105400",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/105400. Skipping"
-},
-{
-  "id": "omim:614153",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/614153",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
-},
-{
-  "id": "omim:603472",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/603472",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
-},
-{
-  "id": "omim:618637",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/618637",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
-},
-{
-  "id": "omim:601846",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/601846",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/601846. Skipping"
-},
-{
-  "id": "omim:258450",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/258450",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/258450. Skipping"
-},
-{
-  "id": "omim:157640",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/157640",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/157640. Skipping"
-},
-{
-  "id": "omim:604326",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/604326",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
-},
-{
-  "id": "omim:616488",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/616488",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/616488. Skipping"
-},
-{
-  "id": "omim:601068",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/601068",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
-},
-{
-  "id": "omim:300123",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/300123",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/300123. Skipping"
-},
-{
-  "id": "omim:607136",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/607136",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
-},
-{
-  "id": "omim:187500",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/187500",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/187500. Skipping"
-},
-{
-  "id": "omim:613267",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/613267",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/613267. Skipping"
-},
-{
-  "id": "omim:619216",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/619216",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
-},
-{
-  "id": "omim:600223",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/600223",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
-},
-{
-  "id": "omim:314390",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/314390",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
-},
-{
-  "id": "omim:616181",
-  "manubot_success": false,
-  "link": "https://omim.org/entry/616181",
-  "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
-},
 {
   "id": "genereviews:NBK535148",
   "manubot_success": true,
@@ -155581,12 +155053,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK51932"
 },
-{
-  "id": "genereviews:NBK1491",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1491",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1491']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1184",
   "manubot_success": true,
@@ -155751,24 +155217,6 @@
   "language": "eng",
   "note": "PMID: 20301319\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1140"
 },
-{
-  "id": "genereviews:NBK1466",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1466",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1466']' timed out after 3 seconds"
-},
-{
-  "id": "genereviews:NBK1123",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1123",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1123']' timed out after 3 seconds"
-},
-{
-  "id": "genereviews:NBK1487",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1487",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1487']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1142",
   "manubot_success": true,
@@ -155805,12 +155253,6 @@
   "language": "eng",
   "note": "PMID: 31145571\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK541729"
 },
-{
-  "id": "genereviews:NBK1119",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1119",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1119']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1165",
   "manubot_success": true,
@@ -155851,12 +155293,6 @@
   "language": "eng",
   "note": "PMID: 38271551\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK599589"
 },
-{
-  "id": "genereviews:NBK1384",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1441",
   "manubot_success": true,
@@ -155876,12 +155312,6 @@
   "language": "eng",
   "note": "PMID: 20301614\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1441"
 },
-{
-  "id": "genereviews:NBK1281",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1281",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1281']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1423",
   "manubot_success": true,
@@ -155899,12 +155329,6 @@
   "language": "eng",
   "note": "PMID: 20301596\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1423"
 },
-{
-  "id": "genereviews:NBK1305",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1305",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1305']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1529",
   "manubot_success": true,
@@ -155944,18 +155368,6 @@
   "language": "eng",
   "note": "PMID: 23946964\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK153723"
 },
-{
-  "id": "genereviews:NBK1126",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1126",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1126']' timed out after 3 seconds"
-},
-{
-  "id": "genereviews:NBK1427",
-  "manubot_success": false,
-  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1427",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1427']' timed out after 3 seconds"
-},
 {
   "id": "genereviews:NBK1229",
   "manubot_success": true,
@@ -156112,12 +155524,6 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly/"
 },
-{
-  "id": "malacard:KNS007",
-  "manubot_success": false,
-  "link": "https://www.malacards.org/card/KNS007",
-  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
-},
 {
   "id": "doi:10.17161/2tmg0f25",
   "manubot_success": true,
@@ -156710,6 +156116,1539 @@
   "language": "en",
   "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://gnomad.broadinstitute.org/short-tandem-repeat/XYLT1?dataset=gnomad_r4"
 },
+{
+  "id": "omim:309548",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/309548",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/309548. Skipping"
+},
+{
+  "id": "omim:309510",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/309510",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/309510. Skipping"
+},
+{
+  "id": "omim:308350",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/308350",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/308350. Skipping"
+},
+{
+  "id": "omim:300004",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/300004",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/300004. Skipping"
+},
+{
+  "id": "omim:300215",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/300215",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/300215. Skipping"
+},
+{
+  "id": "omim:183090",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/183090",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/183090. Skipping"
+},
+{
+  "id": "omim:164500",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/164500",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/164500. Skipping"
+},
+{
+  "id": "omim:608768",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/608768",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/608768. Skipping"
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+},
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+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/615945. Skipping"
+},
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+  "link": "https://omim.org/entry/136630",
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+  "link": "https://omim.org/entry/618940",
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+  "link": "https://omim.org/entry/164310",
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+  "manubot_success": false,
+  "link": "https://omim.org/entry/613608",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/613608. Skipping"
+},
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+  "link": "https://omim.org/entry/609893",
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+  "manubot_success": false,
+  "link": "https://omim.org/entry/105400",
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+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/614153. Skipping"
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+  "link": "https://omim.org/entry/603472",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/603472. Skipping"
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+  "link": "https://omim.org/entry/618637",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/618637. Skipping"
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+  "link": "https://omim.org/entry/601846",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/601846. Skipping"
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+  "link": "https://omim.org/entry/157640",
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+  "link": "https://omim.org/entry/604326",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/604326. Skipping"
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+  "link": "https://omim.org/entry/616488",
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+},
+{
+  "id": "omim:601068",
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+  "link": "https://omim.org/entry/601068",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/601068. Skipping"
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+  "manubot_success": false,
+  "link": "https://omim.org/entry/300123",
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+},
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+  "link": "https://omim.org/entry/607136",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/607136. Skipping"
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+  "link": "https://omim.org/entry/187500",
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+},
+{
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+  "link": "https://omim.org/entry/613267",
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+  "link": "https://omim.org/entry/619216",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/619216. Skipping"
+},
+{
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+  "link": "https://omim.org/entry/600223",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/600223. Skipping"
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+{
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+  "link": "https://omim.org/entry/314390",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/314390. Skipping"
+},
+{
+  "id": "omim:616181",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/616181",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/616181. Skipping"
+},
+{
+  "id": "malacard:KNS007",
+  "manubot_success": false,
+  "link": "https://www.malacards.org/card/KNS007",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.malacards.org/card/KNS007']' timed out after 3 seconds"
+},
+{
+  "id": "pmid:39313615",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/39313615",
+  "title": "A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.",
+  "type": "article-journal",
+  "doi": "10.1038/s41588-024-01917-1",
+  "authors": [
+    ["Bharati", "Jadhav"],
+    ["Paras", "Garg"],
+    ["Joke J F A", "van Vugt"],
+    ["Kristina", "Ibanez"],
+    ["Delia", "Gagliardi"],
+    ["William", "Lee"],
+    ["Mariya", "Shadrina"],
+    ["Tom", "Mokveld"],
+    ["Egor", "Dolzhenko"],
+    ["Alejandro", "Martin-Trujillo"],
+    ["Scott J", "Gies"],
+    ["Gabrielle", "Altman"],
+    ["Clarissa", "Rocca"],
+    ["Mafalda", "Barbosa"],
+    ["Miten", "Jain"],
+    ["Nayana", "Lahiri"],
+    ["Katherine", "Lachlan"],
+    ["Henry", "Houlden"],
+    ["Benedict", "Paten"],
+    ["Jan", "Veldink"],
+    ["Arianna", "Tucci"],
+    ["Andrew J", "Sharp"]
+  ],
+  "publisher": "Nature genetics",
+  "issn": "1546-1718",
+  "date": "2024-09-23",
+  "abstract": "GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA-methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using phenome-wide association studies in 168,641 individuals from the UK Biobank, identifying 156 significant TRE-trait associations involving 17 different TREs. Of these, a GCC expansion in the promoter of AFF3 was associated with a 2.4-fold reduced probability of completing secondary education, an effect size comparable to several recurrent pathogenic microdeletions. In a cohort of 6,371 probands with neurodevelopmental problems of suspected genetic etiology, we observed a significant enrichment of AFF3 expansions compared with controls. With a population prevalence that is at least fivefold higher than the TRE that causes fragile X syndrome, AFF3 expansions represent a major cause of neurodevelopmental delay.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39313615"
+},
+{
+  "id": "pmid:12404104",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/12404104",
+  "title": "Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.",
+  "type": "article-journal",
+  "doi": "10.1038/sj.ejhg.5200880",
+  "authors": [
+    ["Efrat", "Dagan"],
+    ["Eitan", "Friedman"],
+    ["Tamar", "Paperna"],
+    ["Nirit", "Carmi"],
+    ["Ruth", "Gershoni-Baruch"]
+  ],
+  "publisher": "European journal of human genetics : EJHG",
+  "issn": "1018-4813",
+  "date": "2002-11-01",
+  "abstract": "BRCA1/2 mutation carriers are at an increased risk for developing breast and/or ovarian cancer. Yet, the genetic and environmental factors that govern the phenotypic expression of mutant BRCA1/2 alleles remain elusive. The CAG repeat within exon 1 of the androgen receptor (AR) gene is reportedly associated with breast cancer phenotype in BRCA1 mutation carriers. Two hundred and twenty seven BRCA1/2 mutation carriers were genotyped for the polymorphic AR CAG repeat, and allele size was correlated with breast/ovarian cancer morbidity parameters. Of 227 BRCA1/2 carriers, 169 were BRCA1 mutation carriers and 58 carried a BRCA2 mutation, 149 had breast and/or ovarian cancer and 78 were asymptomatic mutation carriers. The mean age at diagnosis in women with either or both neoplasms was 46.7+/-11.2 years, and that of the asymptomatic group - 45.8+/-9.4 years, a statistically insignificant difference. The AR CAG repeat ranged from eight to 28 in all tested women, and the mean number of the repeats were not statistically different between affected (18.3+/-2.4) and asymptomatic mutation carriers (18.6+/-2.1). The AR CAG repeat among patients with early onset (<42 years) breast cancer was significantly shorter (17.5+/-2.3) compared with asymptomatic individuals (18.6+/-2.1) (P<0.01), and the shorter allele - the younger the age at diagnosis. There is no conclusive evidence of association between AR CAG repeat size and breast or ovarian cancer risk in Jewish BRCA1/2 mutation carriers. A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12404104"
+},
+{
+  "id": "pmid:23197655",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/23197655",
+  "title": "Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.",
+  "type": "article-journal",
+  "doi": "10.1093/hmg/dds495",
+  "authors": [
+    ["Stephanie A", "Furrer"],
+    ["Sarah M", "Waldherr"],
+    ["Mathini S", "Mohanachandran"],
+    ["Travis D", "Baughn"],
+    ["Kien-Thiet", "Nguyen"],
+    ["Bryce L", "Sopher"],
+    ["Vincent A", "Damian"],
+    ["Gwenn A", "Garden"],
+    ["Albert R", "La Spada"]
+  ],
+  "publisher": "Human molecular genetics",
+  "issn": "1460-2083",
+  "date": "2012-11-29",
+  "abstract": "Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. In polyQ disorders, synaptic dysfunction and neurodegeneration may develop prior to symptom onset. However, conditional expression studies of polyQ disease models demonstrate that suppression of gene expression can yield complete reversal of established behavioral abnormalities. To determine if SCA7 neurological and neurodegenerative phenotypes are reversible, we crossed PrP-floxed-SCA7-92Q BAC transgenic mice with a tamoxifen-inducible Cre recombinase transgenic line, CAGGS-Cre-ER\u2122. PrP-floxed-SCA7-92Q BAC;CAGGS-Cre-ER\u2122 bigenic mice were treated with a single dose of tamoxifen 1 month after the onset of detectable ataxia, which resulted in ~50% reduction of polyQ-ataxin-7 expression. Tamoxifen treatment halted or reversed SCA7 motor symptoms, reduced ataxin-7 aggregation in Purkinje cells (PCs), and prevented loss of climbing fiber (CF)-PC synapses in comparison to vehicle-treated bigenic animals and tamoxifen-treated PrP-floxed-SCA7-92Q BAC single transgenic mice. Despite this phenotype rescue, reduced ataxin-7 expression did not result in full recovery of cerebellar molecular layer thickness or prevent Bergmann glia degeneration. These results demonstrate that suppression of mutant gene expression by only 50% in a polyQ disease model can have a significant impact on disease phenotypes, even when initiated after the onset of detectable behavioral deficits. The findings reported here are consistent with the emerging view that therapies aimed at reducing neurotoxic gene expression hold the potential to halt or reverse disease progression in afflicted patients, even after the onset of neurological disability.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:23197655"
+},
+{
+  "id": "pmid:29855382",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/29855382",
+  "title": "Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.",
+  "type": "article-journal",
+  "doi": "10.1186/s40478-018-0545-x",
+  "authors": [
+    ["Alexandra M", "Nicholson"],
+    ["Xiaolai", "Zhou"],
+    ["Ralph B", "Perkerson"],
+    ["Tammee M", "Parsons"],
+    ["Jeannie", "Chew"],
+    ["Mieu", "Brooks"],
+    ["Mariely", "DeJesus-Hernandez"],
+    ["NiCole A", "Finch"],
+    ["Billie J", "Matchett"],
+    ["Aishe", "Kurti"],
+    ["Karen R", "Jansen-West"],
+    ["Emilie", "Perkerson"],
+    ["Lillian", "Daughrity"],
+    ["Monica", "Castanedes-Casey"],
+    ["Linda", "Rousseau"],
+    ["Virginia", "Phillips"],
+    ["Fenghua", "Hu"],
+    ["Tania F", "Gendron"],
+    ["Melissa E", "Murray"],
+    ["Dennis W", "Dickson"],
+    ["John D", "Fryer"],
+    ["Leonard", "Petrucelli"],
+    ["Rosa", "Rademakers"]
+  ],
+  "publisher": "Acta neuropathologica communications",
+  "issn": "2051-5960",
+  "date": "2018-05-31",
+  "abstract": "Loss-of-function mutations in progranulin (GRN) and a non-coding (GGGGCC)",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29855382"
+},
+{
+  "id": "pmid:25795648",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/25795648",
+  "title": "C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.",
+  "type": "article-journal",
+  "doi": "10.1212/wnl.0000000000001495",
+  "authors": [
+    ["Corey T", "McMillan"],
+    ["Jenny", "Russ"],
+    ["Elisabeth M", "Wood"],
+    ["David J", "Irwin"],
+    ["Murray", "Grossman"],
+    ["Leo", "McCluskey"],
+    ["Lauren", "Elman"],
+    ["Vivanna", "Van Deerlin"],
+    ["Edward B", "Lee"]
+  ],
+  "publisher": "Neurology",
+  "issn": "1526-632X",
+  "date": "2015-03-20",
+  "abstract": "To use in vivo neuroimaging and postmortem neuropathologic analysis in C9orf72 repeat expansion patients to investigate the hypothesis that C9orf72 promoter hypermethylation is neuroprotective and regionally selective.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:25795648"
+},
+{
+  "id": "pmid:22936364",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/22936364",
+  "title": "Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.",
+  "type": "article-journal",
+  "doi": "10.1002/humu.22211",
+  "authors": [
+    ["Alberto", "Garc\u00eda-Redondo"],
+    ["Oriol", "Dols-Icardo"],
+    ["Ricard", "Rojas-Garc\u00eda"],
+    ["Jes\u00fas", "Esteban-P\u00e9rez"],
+    ["Pilar", "Cordero-V\u00e1zquez"],
+    ["Jos\u00e9 Luis", "Mu\u00f1oz-Blanco"],
+    ["Irene", "Catalina"],
+    ["Miguel", "Gonz\u00e1lez-Mu\u00f1oz"],
+    ["Luis", "Varona"],
+    ["Esther", "Sarasola"],
+    ["Monica", "Povedano"],
+    ["Teresa", "Sevilla"],
+    ["Antonio", "Guerrero"],
+    ["Julio", "Pardo"],
+    ["Adolfo", "L\u00f3pez de Munain"],
+    ["Celedonio", "M\u00e1rquez-Infante"],
+    ["Francisco Javier Rodr\u00edguez", "de Rivera"],
+    ["Pau", "Pastor"],
+    ["Ivonne", "Jeric\u00f3"],
+    ["Amaya \u00c1lvarez", "de Arcaya"],
+    ["Jes\u00fas S", "Mora"],
+    ["Jordi", "Clarim\u00f3n"],
+    ["Juan Francisco", "Gonzalo-Mart\u00ednez"],
+    ["Alexandra", "Ju\u00e1rez-Rufi\u00e1n"],
+    ["Gabriela", "Atencia"],
+    ["Rosario", "Jim\u00e9nez-Bautista"],
+    ["Yolanda", "Mor\u00e1n"],
+    ["Javier", "Masc\u00edas"],
+    ["Mar\u00eda", "Hern\u00e1ndez-Barral"],
+    ["Solange", "Kapetanovic"],
+    ["Mar\u00eda", "Garc\u00eda-Barcina"],
+    ["Carmen", "Alcal\u00e1"],
+    ["Alvaro", "Vela"],
+    ["Concepci\u00f3n", "Ram\u00edrez-Ramos"],
+    ["Luc\u00eda", "Gal\u00e1n"],
+    ["Jordi", "P\u00e9rez-Tur"],
+    ["Beatriz", "Quint\u00e1ns"],
+    ["M Jes\u00fas", "Sobrido"],
+    ["Roberto", "Fern\u00e1ndez-Torr\u00f3n"],
+    ["Juan Jos\u00e9", "Poza"],
+    ["Ana", "Gorostidi"],
+    ["Carmen", "Paradas"],
+    ["Pablo", "Villoslada"],
+    ["Pilar", "Larrod\u00e9"],
+    ["Jos\u00e9 Luis", "Capablo"],
+    ["Jordi", "Pascual-Calvet"],
+    ["Miguel", "Go\u00f1i"],
+    ["Yolanda", "Morgado"],
+    ["Miriam", "Guitart"],
+    ["Sira", "Moreno-Laguna"],
+    ["Almudena", "Rueda"],
+    ["Carlos", "Mart\u00edn-Estefan\u00eda"],
+    ["Carlos", "Cemill\u00e1n"],
+    ["Rafael", "Blesa"],
+    ["Alberto", "Lle\u00f3"]
+  ],
+  "publisher": "Human mutation",
+  "issn": "1098-1004",
+  "date": "2012-10-11",
+  "abstract": "A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). We assessed its frequency in 781 sporadic ALS (sALS) and 155 familial ALS (fALS) cases, and in 248 Spanish controls. We tested the presence of the reported founder haplotype among mutation carriers and in 171 Ceph Europeans from Utah (CEU), 170 Yoruba Africans, 81 Han Chinese, and 85 Japanese subjects. The C9orf72 expansion was present in 27.1% of fALS and 3.2% of sALS. Mutation carriers showed lower age at onset (P = 0.04), shorter survival (P = 0.02), greater co-occurrence of FTD (P = 8.2 \u00d7 10(-5)), and more family history of ALS (P = 1.4 \u00d7 10(-20)), than noncarriers. No association between alleles within the normal range and the risk of ALS was found (P = 0.12). All 61 of the mutation carriers were tested and a patient carrying 28 hexanucleotide repeats presented with the founder haplotype. This haplotype was found in 5.6% Yoruba Africans, 8.9% CEU, 3.9% Japanese, and 1.6% Han Chinese chromosomes.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22936364"
+},
+{
+  "id": "pmid:22892647",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/22892647",
+  "title": "Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.",
+  "type": "article-journal",
+  "doi": "10.1097/wad.0b013e318266fae5",
+  "authors": [
+    ["Anna-Lotta", "Kaivorinne"],
+    ["Virpi", "Moilanen"],
+    ["Marko", "Kervinen"],
+    ["Alan E", "Renton"],
+    ["Bryan J", "Traynor"],
+    ["Kari", "Majamaa"],
+    ["Anne M", "Remes"]
+  ],
+  "publisher": "Alzheimer disease and associated disorders",
+  "issn": "1546-4156",
+  "date": "2014-01-01",
+  "abstract": "Frontotemporal lobar degeneration (FTLD) is a genetically heterogenous syndrome and has been associated most recently with a hexanucleotide repeat expansion within the C9ORF72 gene. Pathogenic TDP-43 gene (TARDBP) mutations have been identified in amyotrophic lateral sclerosis, but the role of TARDBP mutations in FTLD is more contradictory. To investigate the role of TARDBP mutations in a clinical series of Finnish FTLD patients, we sequenced TARDBP exons 1 to 6 in 77 FTLD patients. No evident pathogenic mutations were found. We identified a novel heterozygous c.876_878delCAG sequence variant in 2 related patients with behavioral variant frontotemporal dementia without amyotrophic lateral sclerosis. The variant is predicted to cause an amino acid deletion of serine at position 292 (p.Ser292del). However, p.Ser292del was also found in 1 healthy middle-aged control. Interestingly, both patients carried the C9ORF72 expansion. Therefore, the TARDBP variant p.Ser292del might be considered a rare polymorphism and the C9ORF72 repeat expansion the actual disease-causing mutation in the family. Our results suggest that TARDBP mutations are a rare cause of FTLD. However, the interaction of several genetic factors needs to be taken into account when investigating neurodegenerative diseases.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22892647"
+},
+{
+  "id": "pmid:33121221",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/33121221",
+  "title": "New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia.",
+  "type": "article-journal",
+  "doi": "10.14802/jmd.20082",
+  "authors": [
+    ["Yannic", "Saathoff"],
+    ["Saskia", "Biskup"],
+    ["Claudia", "Funke"],
+    ["Christian", "Roth"]
+  ],
+  "publisher": "Journal of movement disorders",
+  "issn": "2005-940X",
+  "date": "2020-10-31",
+  "abstract": "The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the underlying mechanisms remain unclear. Here, we report a 58-year-old male patient who presented with severe generalized ataxia, horizontal gaze-evoked nystagmus, cognitive impairment and a positive family history of gait difficulties. Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. Glu995*) that segregated with the phenotype in three clinically affected family members. This gene is related to SCA type 6 (SCA6), episodic ataxia type 2, familial hemiplegic migraine type 1, among others. When it is supported by the clinical findings and family history, additional DNA sequencing beyond fragment length analysis should be performed.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33121221"
+},
+{
+  "id": "pmid:29367260",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/29367260",
+  "title": "Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.",
+  "type": "article-journal",
+  "doi": "10.1136/jnnp-2017-317253",
+  "authors": [
+    ["Sarah", "Wiethoff"],
+    ["Emer", "O'Connor"],
+    ["Nourelhoda A", "Haridy"],
+    ["Suran", "Nethisinghe"],
+    ["Nicholas", "Wood"],
+    ["Paola", "Giunti"],
+    ["Concei\u00e7\u00e3o", "Bettencourt"],
+    ["Henry", "Houlden"]
+  ],
+  "publisher": "Journal of neurology, neurosurgery, and psychiatry",
+  "issn": "1468-330X",
+  "date": "2018-01-24",
+  "abstract": "",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29367260"
+},
+{
+  "id": "pmid:39492694",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/39492694",
+  "title": "dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection.",
+  "type": "article-journal",
+  "doi": "10.1093/clinchem/hvae164",
+  "authors": [
+    ["Kang", "Yang"],
+    ["Yue", "Liu"],
+    ["Ji", "Zhang"],
+    ["Qian", "Yu"],
+    ["Feng", "Xu"],
+    ["Jiyuan", "Liu"],
+    ["Yuting", "Li"],
+    ["Xiaojie", "Zhang"],
+    ["Zhiqiang", "Wang"],
+    ["Ning", "Wang"],
+    ["Yuezhen", "Li"],
+    ["Yan", "Shi"],
+    ["Wan-Jin", "Chen"]
+  ],
+  "publisher": "Clinical chemistry",
+  "issn": "1530-8561",
+  "date": "2025-02-03",
+  "abstract": "Tandem repeats (TRs) are abundant in the human genome and associated with repeat expansion disorders. Our study aimed to develop a tandem repeat panel utilizing targeted long-read sequencing to evaluate known TRs associated with these disorders and assess its clinical utility.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39492694"
+},
+{
+  "id": "pmid:33682722",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/33682722",
+  "title": "Dysregulation of GSK3\u03b2-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.",
+  "type": "article-journal",
+  "doi": "10.3233/jnd-200558",
+  "authors": [
+    ["Valentina", "Grande"],
+    ["Denisa", "Hathazi"],
+    ["Emily", "O'Connor"],
+    ["Theo", "Marteau"],
+    ["Ulrike", "Schara-Schmidt"],
+    ["Andreas", "Hentschel"],
+    ["Genevieve", "Gourdon"],
+    ["Nikoletta", "Nikolenko"],
+    ["Hanns", "Lochm\u00fcller"],
+    ["Andreas", "Roos"]
+  ],
+  "publisher": "Journal of neuromuscular diseases",
+  "issn": "2214-3602",
+  "date": "2021-01-01",
+  "abstract": "Myotonic dystrophy type 1 (DM1) is the most common monogenetic muscular disorder of adulthood. This multisystemic disease is caused by CTG repeat expansion in the 3'-untranslated region of the DM1 protein kinase gene called DMPK. DMPK encodes a myosin kinase expressed in skeletal muscle cells and other cellular populations such as smooth muscle cells, neurons and fibroblasts. The resultant expanded (CUG)n RNA transcripts sequester RNA binding factors leading to ubiquitous and persistent splicing deregulation. The accumulation of mutant CUG repeats is linked to increased activity of glycogen synthase kinase 3 beta (GSK3\u03b2), a highly conserved and ubiquitous serine/threonine kinase with functions in pathways regulating inflammation, metabolism, oncogenesis, neurogenesis and myogenesis. As GSK3\u03b2-inhibition ameliorates defects in myogenesis, muscle strength and myotonia in a DM1 mouse model, this kinase represents a key player of DM1 pathobiochemistry and constitutes a promising therapeutic target. To better characterise DM1 patients, and monitor treatment responses, we aimed to define a set of robust disease and severity markers linked to GSK3\u03b2by unbiased proteomic profiling utilizing fibroblasts derived from DM1 patients with low (80- 150) and high (2600- 3600) CTG-repeats. Apart from GSK3\u03b2 increase, we identified dysregulation of nine proteins (CAPN1, CTNNB1, CTPS1, DNMT1, HDAC2, HNRNPH3, MAP2K2, NR3C1, VDAC2) modulated by GSK3\u03b2. In silico-based expression studies confirmed expression in neuronal and skeletal muscle cells and revealed a relatively elevated abundance in fibroblasts. The potential impact of each marker in the myopathology of DM1 is discussed based on respective function to inform potential uses as severity markers or for monitoring GSK3\u03b2 inhibitor treatment responses.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33682722"
+},
+{
+  "id": "pmid:29246312",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/29246312",
+  "title": "CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.",
+  "type": "article-journal",
+  "doi": "10.1016/j.omtn.2017.10.006",
+  "authors": [
+    ["Claudia", "Provenzano"],
+    ["Marisa", "Cappella"],
+    ["Rea", "Valaperta"],
+    ["Rosanna", "Cardani"],
+    ["Giovanni", "Meola"],
+    ["Fabio", "Martelli"],
+    ["Beatrice", "Cardinali"],
+    ["Germana", "Falcone"]
+  ],
+  "publisher": "Molecular therapy. Nucleic acids",
+  "issn": "2162-2531",
+  "date": "2017-10-14",
+  "abstract": "Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation. No effective therapy is yet available for treatment of the disease. In this study, myogenic cell models were generated from myotonic dystrophy patient-derived fibroblasts. These cells exhibit typical disease-associated ribonuclear aggregates, containing CUG repeats and muscleblind-like 1 protein, and alternative splicing alterations. We exploited these cell models to develop new gene therapy strategies aimed at eliminating the toxic mutant repeats. Using the CRISPR/Cas9 gene-editing system, the repeat expansions were removed, therefore preventing nuclear foci formation and splicing alterations. Compared with the previously reported strategies of inhibition/degradation of CUG expanded transcripts by various techniques, the advantage of this approach is that affected cells can be permanently reverted to a normal phenotype.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:29246312"
+},
+{
+  "id": "pmid:20171614",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/20171614",
+  "title": "Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis.",
+  "type": "article-journal",
+  "doi": "10.1016/j.fertnstert.2009.10.050",
+  "authors": [
+    ["Georgia", "Kakourou"],
+    ["Seema", "Dhanjal"],
+    ["Thalia", "Mamas"],
+    ["Paul", "Serhal"],
+    ["Joy D", "Delhanty"],
+    ["Sioban B", "SenGupta"]
+  ],
+  "publisher": "Fertility and sterility",
+  "issn": "1556-5653",
+  "date": "2010-02-19",
+  "abstract": "To overcome problems associated with the use of triplet repeat primed polymerase chain reaction (TP-PCR) in preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1).",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:20171614"
+},
+{
+  "id": "pmid:39934227",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/39934227",
+  "title": "Repeat expansion in a fragile X model is independent of double strand break repair mediated by Pol \u03b8, RAD52, RAD54 or RAD54B.",
+  "type": "article-journal",
+  "doi": "10.1038/s41598-025-87541-3",
+  "authors": [
+    ["Bruce E", "Hayward"],
+    ["Geum-Yi", "Kim"],
+    ["Carson J", "Miller"],
+    ["Cai", "McCann"],
+    ["Megan G", "Lowery"],
+    ["Richard D", "Wood"],
+    ["Karen", "Usdin"]
+  ],
+  "publisher": "Scientific reports",
+  "issn": "2045-2322",
+  "date": "2025-02-11",
+  "abstract": "Microsatellite instability is responsible for the human repeat expansion diseases\u00a0(REDs). The mutagenic process differs from classical cancer-associated microsatellite instability (MSI) in that it requires the mismatch repair proteins that normally protect against MSI. LIG4, an enzyme essential for non-homologous end-joining (NHEJ), the major pathway for double-strand break repair (DSBR) in mammalian cells, protects against expansion in mouse models. Thus, NHEJ may compete with the expansion pathway for access to a common intermediate. This raises the possibility that expansion involves an NHEJ-independent form of DSBR. Pol \u03b8, a polymerase involved in the theta-mediated end joining (TMEJ) DSBR pathway, has been proposed to play a role in repeat expansion. Here we examine the effect of the loss of Pol \u03b8 on expansion in FXD mouse embryonic stem cells (mESCs), along with the effects of mutations in Rad52, Rad54l and Rad54b, genes important for multiple DSBR pathways. None of these mutations significantly affected repeat expansion. These observations put major constraints on what pathways are likely to drive expansion. Together with our previous demonstration of the protective effect of nucleases like EXO1 and FAN1, and the importance of Pol \u03b2, they suggest a plausible model for late steps in the expansion process.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39934227"
+},
+{
+  "id": "pmid:39488698",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/39488698",
+  "title": "Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.",
+  "type": "article-journal",
+  "doi": "10.1186/s13229-024-00626-0",
+  "authors": [
+    ["Jordan E", "Norris"],
+    ["Elizabeth M", "Berry-Kravis"],
+    ["Mark D", "Harnett"],
+    ["Scott A", "Reines"],
+    ["Melody A", "Reese"],
+    ["Abigail H", "Outterson"],
+    ["Claire", "Michalak"],
+    ["Jeremiah", "Furman"],
+    ["Mark E", "Gurney"],
+    ["Lauren E", "Ethridge"]
+  ],
+  "publisher": "Molecular autism",
+  "issn": "2040-2392",
+  "date": "2024-11-02",
+  "abstract": "Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a CGG repeat expansion\u2009\u2265\u2009200 repeats in 5' untranslated region of the FMR1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. A recent phase 2a clinical trial testing BPN14770, a phosphodiesterase 4D inhibitor, showed improved cognition in 30 adult males with FXS on drug relative to placebo. The initial study found significant improvements in clinical measures assessing cognition, language, and daily functioning in addition to marginal improvements in electroencephalography (EEG) results for the amplitude of the N1 event-related potential (ERP) component. These EEG results suggest BPN14770 improved neural hyperexcitability in FXS. The current study investigated the relationship between BPN14770 pharmacokinetics and the amplitude of the N1 ERP component from the initial data. Consistent with the original group-level finding post-period 1 of the study, participants who received BPN14770 in period 1 showed a significant correlation between N1 amplitude and serum concentration of BPN14770 measured at the end of period 1. These findings strengthen the validity of the original result, indicating that BPN14770 improves cognitive performance by modulating neural hyperexcitability. This study represents the first report of a significant correlation between a reliably abnormal EEG marker and serum concentration of a novel pharmaceutical in FXS.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:39488698"
+},
+{
+  "id": "pmid:34926684",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/34926684",
+  "title": "Screening for",
+  "type": "article-journal",
+  "doi": "10.1155/2021/4359308",
+  "authors": [
+    ["Areerat", "Hnoonual"],
+    ["Charunee", "Jankittunpaiboon"],
+    ["Pornprot", "Limprasert"]
+  ],
+  "publisher": "BioMed research international",
+  "issn": "2314-6141",
+  "date": "2021-12-08",
+  "abstract": "Autism spectrum disorder (ASD) is a complex disorder with a heterogeneous etiology. Fragile X syndrome (FXS) is recognized as the most common single gene mutation associated with ASD. FXS patients show some autistic behaviors and may be difficult to distinguish at a young age from autistic children. However, there have been no published reports on the prevalence of FXS in ASD patients in Thailand. In this study, we present a pilot study to analyze the CGG repeat sizes of the",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34926684"
+},
+{
+  "id": "pmid:34646309",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/34646309",
+  "title": "Characterization of",
+  "type": "article-journal",
+  "doi": "10.3389/fgene.2021.743230",
+  "authors": [
+    ["Valentina", "Grosso"],
+    ["Luca", "Marcolungo"],
+    ["Simone", "Maestri"],
+    ["Massimiliano", "Alfano"],
+    ["Denise", "Lavezzari"],
+    ["Barbara", "Iadarola"],
+    ["Alessandro", "Salviati"],
+    ["Barbara", "Mariotti"],
+    ["Annalisa", "Botta"],
+    ["Maria Rosaria", "D'Apice"],
+    ["Giuseppe", "Novelli"],
+    ["Massimo", "Delledonne"],
+    ["Marzia", "Rossato"]
+  ],
+  "publisher": "Frontiers in genetics",
+  "issn": "1664-8021",
+  "date": "2021-09-27",
+  "abstract": "Traditional methods for the analysis of repeat expansions, which underlie genetic disorders, such as fragile X syndrome (FXS), lack single-nucleotide resolution in repeat analysis and the ability to characterize causative variants outside the repeat array. These drawbacks can be overcome by long-read and short-read sequencing, respectively. However, the routine application of next-generation sequencing in the clinic requires target enrichment, and none of the available methods allows parallel analysis of long-DNA fragments using both sequencing technologies. In this study, we investigated the use of indirect sequence capture (Xdrop technology) coupled to Nanopore and Illumina sequencing to characterize",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34646309"
+},
+{
+  "id": "pmid:34296199",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/34296199",
+  "title": "The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls.",
+  "type": "article-journal",
+  "doi": "10.1016/j.crtox.2020.09.001",
+  "authors": [
+    ["Lauren", "Matelski"],
+    ["Kimberly P", "Keil Stietz"],
+    ["Sunjay", "Sethi"],
+    ["Sandra L", "Taylor"],
+    ["Judy", "Van de Water"],
+    ["Pamela J", "Lein"]
+  ],
+  "publisher": "Current research in toxicology",
+  "issn": "2666-027X",
+  "date": "2020-09-10",
+  "abstract": "Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life immune dysregulation. Studies of the immunomodulatory effects of PCBs have focused on the higher-chlorinated congeners found in legacy commercial mixtures. Comparatively little is known about the immune effects of contemporary, lower-chlorinated PCBs. This is a critical data gap given recent reports that lower-chlorinated congeners comprise >70% of the total PCB burden in serum of pregnant women enrolled in the MARBLES study who are at increased risk for having a child with an NDD. To examine the influence of PCBs, sex, and genotype on cytokine levels, mice were exposed throughout gestation and lactation to a PCB mixture in the maternal diet, which was based on the 12 most abundant PCBs in sera from MARBLES subjects. Using multiplex array, cytokines were quantified in the serum and hippocampus of weanling mice expressing either a human gain-of-function mutation in ryanodine receptor 1 (T4826I mice), a human CGG premutation repeat expansion in the fragile X mental retardation gene 1 (CGG mice), or both mutations (DM mice). Congenic wildtype (WT) mice were used as controls. There were dose-dependent effects of PCB exposure on cytokine concentrations in the serum but not hippocampus. Differential effects of genotype were observed in the serum and hippocampus. Hippocampal cytokines were consistently elevated in T4826I mice and also in WT animals for some cytokines compared to CGG and DM mice, while serum cytokines were usually elevated in the mutant genotypes compared to the WT group. Males had elevated levels of 19 cytokines in the serum and 4 in the hippocampus compared to females, but there were also interactions between sex and genotype for 7 hippocampal cytokines. Only the chemokine CCL5 in the serum showed an interaction between PCB dose, genotype, and sex. Collectively, these findings indicate differential influences of PCB exposure and genotype on cytokine levels in serum and hippocampal tissue of weanling mice. These results suggest that developmental PCB exposure has chronic effects on baseline serum, but not hippocampal, cytokine levels in juvenile mice.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:34296199"
+},
+{
+  "id": "pmid:33998336",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/33998336",
+  "title": "Mosaicism in Fragile X syndrome: A family case series.",
+  "type": "article-journal",
+  "doi": "10.1177/1744629521995346",
+  "authors": [
+    ["Wilmar", "Saldarriaga"],
+    ["Laura Yuriko", "Gonz\u00e1lez-Teshima"],
+    ["Jose Vicente", "Forero-Forero"],
+    ["Hiu-Tung", "Tang"],
+    ["Flora", "Tassone"]
+  ],
+  "publisher": "Journal of intellectual disabilities : JOID",
+  "issn": "1744-6309",
+  "date": "2021-05-17",
+  "abstract": "Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 (",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33998336"
+},
+{
+  "id": "pmid:33585555",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/33585555",
+  "title": "Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.",
+  "type": "article-journal",
+  "doi": "10.3389/fmolb.2020.600840",
+  "authors": [
+    ["Katharine Nichole", "Holm"],
+    ["Anthony W", "Herren"],
+    ["Sandra L", "Taylor"],
+    ["Jamie L", "Randol"],
+    ["Kyoungmi", "Kim"],
+    ["Glenda", "Espinal"],
+    ["Ver\u00f3nica", "Marti\u00ednez-Cerde\u00f1o"],
+    ["Isaac N", "Pessah"],
+    ["Randi J", "Hagerman"],
+    ["Paul J", "Hagerman"]
+  ],
+  "publisher": "Frontiers in molecular biosciences",
+  "issn": "2296-889X",
+  "date": "2021-01-29",
+  "abstract": "",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33585555"
+},
+{
+  "id": "pmid:33151065",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/33151065",
+  "title": "Label-free Electrochemical Detection of CGG Repeats on Inkjet Printable 2D Layers of MoS",
+  "type": "article-journal",
+  "doi": "10.1021/acsami.0c14912",
+  "authors": [
+    ["Narges", "Asefifeyzabadi"],
+    ["Rana", "Alkhaldi"],
+    ["Ahmad Z", "Qamar"],
+    ["Adrian A", "Pater"],
+    ["Meera", "Patwardhan"],
+    ["Keith T", "Gagnon"],
+    ["Saikat", "Talapatra"],
+    ["Mohtashim H", "Shamsi"]
+  ],
+  "publisher": "ACS applied materials & interfaces",
+  "issn": "1944-8252",
+  "date": "2020-11-05",
+  "abstract": "Flexible and ultrasensitive biosensing platforms capable of detecting a large number of trinucleotide repeats (TNRs) are crucial for future technology development needed to combat a variety of genetic disorders. For example, trinucleotide CGG repeat expansions in the",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:33151065"
+},
+{
+  "id": "pmid:17044853",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/17044853",
+  "title": "FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.",
+  "type": "article-journal",
+  "doi": "10.1111/j.1469-1809.2006.00265.x",
+  "authors": [
+    ["Youyou", "Zhou"],
+    ["Kun", "Tang"],
+    ["Hai-Yang", "Law"],
+    ["Ivy S L", "Ng"],
+    ["Caroline G L", "Lee"],
+    ["Samuel S", "Chong"]
+  ],
+  "publisher": "Annals of human genetics",
+  "issn": "0003-4800",
+  "date": "2006-11-01",
+  "abstract": "Hyper-expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene followed by methylation and silencing is the predominant cause of Fragile X syndrome, the most common inherited mental retardation disorder. Most detailed studies of the FMR1 gene have focused on Caucasian populations and patients. We performed a detailed haplotype and linkage disequilibrium analysis of the FMR1 gene in a total of 454 unselected normal X chromosomes from three Asian populations, Chinese, Malay and Indian. Compared to Caucasians and African Americans, the diversity of normal FMR1 CGG repeat lengths, patterns and flanking haplotypes were lower in Asians. Strong linkage disequilibrium was observed between the CGG repeat and flanking FMR1 markers in all three Asian populations, with strong association between specific CGG repeat alleles and flanking marker alleles observed only in the Chinese and Malays. A test for randomness of distribution between FRAXA CGG repeat patterns and flanking FMR1 marker haplotypes also revealed a highly significant non-random distribution between CGG repeat patterns and flanking haplotypes in all three ethnic groups (P < 0.001). Extending previous findings in Caucasians and African Americans we present a novel statistical approach, using data from unselected population samples alone, to show an association between absence of at least one AGG interruption in any position (5', 3', or middle) and increased CGG repeat instability.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17044853"
+},
+{
+  "id": "pmid:8664297",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/8664297",
+  "title": "Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci.",
+  "type": "article-journal",
+  "doi": "10.1021/bi9601013",
+  "authors": [
+    ["C E", "Pearson"],
+    ["R R", "Sinden"]
+  ],
+  "publisher": "Biochemistry",
+  "issn": "0006-2960",
+  "date": "1996-04-16",
+  "abstract": "Most models proposed to explain the disease-associated expansion of (CTG)n.(CAG)n and (CGG)n.(CCG)n trinucleotide repeats include the formation of slipped strand DNA structures during replication; however, physical evidence for these alternative DNA secondary structures has not been reported. Using cloned fragments from the myotonic dystrophy (DM) and fragile X syndrome (FRAXA) loci containing normal, premutation, and full mutation lengths of repeats, we report the formation of novel alternative DNA secondary structures that map within the repeat tracts during reannealing of complementary strands, containing equal lengths of repeats, into linear duplex DNA molecules. Linear duplex DNA molecules containing these alternative DNA secondary structures are characterized by reduced electrophoretic mobilities in polyacrylamide gels. These alternative secondary structures are stable at physiological ionic strengths and to temperatures up to at least 55 degrees C. Following reduplexing, the CAG strand of the (CTG)n.(CAG)n repeats is preferentially sensitive to mung bean nuclease, suggesting the presence of single-stranded DNA in the alternative DNA structure. For (CTG)17, which is a repeat length found in normal individuals, less than 3% of the DNA molecules formed alternative DNA structures upon reduplexing. DNA molecules containing (CTG)50 or (CTG)255, which represent premutation and full mutation lengths of triplet repeats, respectively, formed a heterogeneous population of alternative DNA structures in >50% of DNA molecules. The complexity of the structures formed increased with the length of the triplet repeat. The relationship between repeat length and the propensity of formation and complexity of the novel structures correlates with the effect of repeat length on genetic instability in human diseases. These are the first results consistent with the existence of slipped strand DNA structures. The potential involvement of these structures, which we term S-DNA, in the gentic instability of triplet repeats is discussed.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8664297"
+},
+{
+  "id": "pmid:28904984",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/28904984",
+  "title": "Impact of diabetes in the Friedreich ataxia clinical outcome measures study.",
+  "type": "article-journal",
+  "doi": "10.1002/acn3.439",
+  "authors": [
+    ["Ashley", "McCormick"],
+    ["Jennifer", "Farmer"],
+    ["Susan", "Perlman"],
+    ["Martin", "Delatycki"],
+    ["George", "Wilmot"],
+    ["Katherine", "Matthews"],
+    ["Grace", "Yoon"],
+    ["Chad", "Hoyle"],
+    ["Sub H", "Subramony"],
+    ["Theresa", "Zesiewicz"],
+    ["David R", "Lynch"],
+    ["Shana E", "McCormack"]
+  ],
+  "publisher": "Annals of clinical and translational neurology",
+  "issn": "2328-9503",
+  "date": "2017-07-26",
+  "abstract": "Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:28904984"
+},
+{
+  "id": "pmid:27648458",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/27648458",
+  "title": "Progression of Friedreich ataxia: quantitative characterization over 5 years.",
+  "type": "article-journal",
+  "doi": "10.1002/acn3.332",
+  "authors": [
+    ["Maya", "Patel"],
+    ["Charles J", "Isaacs"],
+    ["Lauren", "Seyer"],
+    ["Karlla", "Brigatti"],
+    ["Sarah", "Gelbard"],
+    ["Cassandra", "Strawser"],
+    ["Debbie", "Foerster"],
+    ["Julianna", "Shinnick"],
+    ["Kimberly", "Schadt"],
+    ["Eppie M", "Yiu"],
+    ["Martin B", "Delatycki"],
+    ["Susan", "Perlman"],
+    ["George R", "Wilmot"],
+    ["Theresa", "Zesiewicz"],
+    ["Katherine", "Mathews"],
+    ["Christopher M", "Gomez"],
+    ["Grace", "Yoon"],
+    ["Sub H", "Subramony"],
+    ["Alicia", "Brocht"],
+    ["Jennifer", "Farmer"],
+    ["David R", "Lynch"]
+  ],
+  "publisher": "Annals of clinical and translational neurology",
+  "issn": "2328-9503",
+  "date": "2016-07-25",
+  "abstract": "Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder of adults and children. This study analyzed neurological outcomes and changes to identify predictors of progression and generate power calculations for clinical trials.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27648458"
+},
+{
+  "id": "pmid:16989817",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/16989817",
+  "title": "Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.",
+  "type": "article-journal",
+  "doi": "10.1016/j.febslet.2006.09.006",
+  "authors": [
+    ["LaKechia", "Grant"],
+    ["Jun", "Sun"],
+    ["Hongzhi", "Xu"],
+    ["S H", "Subramony"],
+    ["Jonathan B", "Chaires"],
+    ["Michael D", "Hebert"]
+  ],
+  "publisher": "FEBS letters",
+  "issn": "0014-5793",
+  "date": "2006-09-15",
+  "abstract": "Friedreich's ataxia (FRDA) is an autosomal recessive trinucleotide repeat disease with no effective therapy. Expanded GAA repeats in the first intron of the FRDA gene are thought to form unusual non-B DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. Frataxin plays a crucial role in iron metabolism and detoxification. To discover small molecules that increase transcription through the GAA repeat region in FRDA, we have made stable cell lines containing a portion of expanded intron 1 fused to a GFP reporter. Small molecules identified using the competition dialysis method were found to increase FRDA-intron 1-reporter gene expression. One of these compounds, pentamidine, increases frataxin levels in patient cells. Thus our approach can be used to detect small molecules of potential therapeutic value in FRDA.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16989817"
+},
+{
+  "id": "pmid:41389205",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/41389205",
+  "title": "A human CAGinSTEM platform for decoding HTT repeats' somatic instability links CAG interruption to HD pathology in neurons.",
+  "type": "article-journal",
+  "doi": "10.1016/j.celrep.2025.116685",
+  "authors": [
+    ["Martina", "Zobel"],
+    ["Gianluca", "Damaggio"],
+    ["Maria Lidia", "Mignogna"],
+    ["Dario", "Besusso"],
+    ["Davide", "Scalzo"],
+    ["Andrea", "Cossu"],
+    ["Camilla", "Trovesi"],
+    ["Mariacristina", "Crosti"],
+    ["Francesco", "Cortina"],
+    ["Ilaria", "Campus"],
+    ["Giulio", "Formenti"],
+    ["Saveria", "Mazzara"],
+    ["Francesco", "Gregoretti"],
+    ["Laura", "Antonelli"],
+    ["Gennaro", "Oliva"],
+    ["Chiara", "Zuccato"],
+    ["Vincenza", "Colonna"],
+    ["Paola", "Conforti"],
+    ["Matteo", "Cereda"],
+    ["Riccardo Lorenzo", "Rossi"],
+    ["Simone", "Maestri"],
+    ["Andrea", "Scolz"],
+    ["Raffale", "Iennaco"],
+    ["Elena", "Cattaneo"]
+  ],
+  "publisher": "Cell reports",
+  "issn": "2211-1247",
+  "date": "2025-12-11",
+  "abstract": "Somatic CAG instability in the mutant Huntingtin (HTT) gene is increasingly recognized as a key hallmark of Huntington's disease (HD). Using our novel human CAGinSTEM platform, we manipulated cis genetic elements influencing instability in human HD neurons, monitoring repeat length. Quality-controlled CRISPR-engineered stem cells with increasing CAG lengths and clinical haplotypes were analyzed using third-generation sequencing. Our findings link interruptions in the CAG repeat, especially the loss or duplication of the penultimate CAA of canonical alleles, to significant instability modulation. Notably, four internal CAA interruptions completely abolish CAG instability, reversing HD phenotypes such as altered striatal fate acquisition and nuclear disorganization. This platform highlights the role of cis modifiers, emphasizing the direct influence of HTT DNA repeat composition on CAG instability and providing a robust framework for modeling HTT repeat instability in vitro.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:41389205"
+},
+{
+  "id": "pmid:22359536",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/22359536",
+  "title": "Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.",
+  "type": "article-journal",
+  "doi": "10.1371/journal.pone.0029522",
+  "authors": [
+    ["E Ray", "Dorsey"]
+  ],
+  "publisher": "PloS one",
+  "issn": "1932-6203",
+  "date": "2012-02-16",
+  "abstract": "Careful characterization of the phenotype and genotype of Huntington disease (HD) can foster better understanding of the condition.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:22359536"
+},
+{
+  "id": "pmid:19270701",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/19270701",
+  "title": "Polyglutamine disruption of the huntingtin exon 1 N terminus triggers a complex aggregation mechanism.",
+  "type": "article-journal",
+  "doi": "10.1038/nsmb.1570",
+  "authors": [
+    ["Ashwani K", "Thakur"],
+    ["Murali", "Jayaraman"],
+    ["Rakesh", "Mishra"],
+    ["Monika", "Thakur"],
+    ["Veronique M", "Chellgren"],
+    ["In-Ja L", "Byeon"],
+    ["Dalaver H", "Anjum"],
+    ["Ravindra", "Kodali"],
+    ["Trevor P", "Creamer"],
+    ["James F", "Conway"],
+    ["Angela M", "Gronenborn"],
+    ["Ronald", "Wetzel"]
+  ],
+  "publisher": "Nature structural & molecular biology",
+  "issn": "1545-9985",
+  "date": "2009-03-08",
+  "abstract": "Simple polyglutamine (polyQ) peptides aggregate in vitro via a nucleated growth pathway directly yielding amyloid-like aggregates. We show here that the 17-amino-acid flanking sequence (HTT(NT)) N-terminal to the polyQ in the toxic huntingtin exon 1 fragment imparts onto this peptide a complex alternative aggregation mechanism. In isolation, the HTT(NT) peptide is a compact coil that resists aggregation. When polyQ is fused to this sequence, it induces in HTT(NT), in a repeat-length dependent fashion, a more extended conformation that greatly enhances its aggregation into globular oligomers with HTT(NT) cores and exposed polyQ. In a second step, a new, amyloid-like aggregate is formed with a core composed of both HTT(NT) and polyQ. The results indicate unprecedented complexity in how primary sequence controls aggregation within a substantially disordered peptide and have implications for the molecular mechanism of Huntington's disease.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19270701"
+},
+{
+  "id": "pmid:17299512",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/17299512",
+  "title": "Monoamine metabolites level in CSF is related to the 5-HTT gene polymorphism in treatment-resistant depression.",
+  "type": "article-journal",
+  "doi": "10.1038/sj.npp.1301336",
+  "authors": [
+    ["Ikuko", "Kishida"],
+    ["Eleni", "Aklillu"],
+    ["Chiaki", "Kawanishi"],
+    ["Leif", "Bertilsson"],
+    ["Hans", "Agren"]
+  ],
+  "publisher": "Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology",
+  "issn": "0893-133X",
+  "date": "2007-02-14",
+  "abstract": "The serotonin (5-hydroxytryptamine) transporter (5-HTT) is considered to affect the pathogenesis of mood disorders. Large number of genetic association studies between 5-HTT functional polymorphisms and vulnerability of mood disorders and therapeutic response to antidepressants has been carried out. We investigated the influence of 5-HTT-linked polymorphic region (5-HTTLPR) and 5-HTT 17 bp variable number of tandem repeat polymorphism (5-HTTVNTR) polymorphisms on concentrations of monoamine metabolites in cerebrospinal fluid (CSF) among treatment-resistant patients with mood disorders. Subjects were 119 Swedish patients with persistent mood disorders and 141 healthy subjects. In 112 of these patients, we measured 5-hydroxyindoleacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol in CSF. Genotyping for 5-HTT polymorphisms from genomic DNA was carried out by PCR. There was no significant difference in allele/genotype frequency between patients and healthy subjects. In patients with mood disorders, we found significant difference in mean 5-HIAA concentration between 5-HTTLPR genotypes (p=0.03). Although the 5-HIAA concentration showed a tendency to be higher in short (S) carriers than in non-S carriers of the 5-HTTLPR in patients (p=0.06), when considering patients with major depressive disorder (MDD), the 5-HIAA concentration was significantly higher among S carriers than among non-S carriers (p=0.02). Moreover, the 5-HIAA concentration was higher in S/S subjects compared to long (L)/L (p=0.0001) and L/S (p=0.002) subjects in patients with MDD. Similarly, there was higher HVA concentration in S/S subjects compared to L/L (p=0.002) and L/S subjects (p=0.002). There was no effect of 5-HTTVNTR. Our findings show that the 5-HTTLPR polymorphism affects 5-HIAA and HVA concentrations among treatment-resistant patients with mood disorders.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17299512"
+},
+{
+  "id": "pmid:17174018",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/17174018",
+  "title": "Association between obsessive-compulsive disorder and a variable number of tandem repeats polymorphism in intron 2 of the serotonin transporter gene.",
+  "type": "article-journal",
+  "doi": "10.1016/j.pnpbp.2006.10.016",
+  "authors": [
+    ["Enrique", "Baca-Garcia"],
+    ["Concepcion", "Vaquero-Lorenzo"],
+    ["Montserrat", "Diaz-Hernandez"],
+    ["Beatriz", "Rodriguez-Salgado"],
+    ["Helen", "Dolengevich-Segal"],
+    ["Manuel", "Arrojo-Romero"],
+    ["Carlota", "Botillo-Martin"],
+    ["Antonio", "Ceverino"],
+    ["Jose Fernandez", "Piqueras"],
+    ["M Mercedes", "Perez-Rodriguez"],
+    ["Jeronimo", "Saiz-Ruiz"]
+  ],
+  "publisher": "Progress in neuro-psychopharmacology & biological psychiatry",
+  "issn": "0278-5846",
+  "date": "2006-12-13",
+  "abstract": "Pharmacological studies indicate a dysregulation of the serotonergic system in obsessive-compulsive disorder (OCD). A variable number tandem repeats (VNTR) polymorphism with three alleles (Stin2.9, Stin2.10, Stin2.12) has been described in intron 2 of the serotonin transporter (5-HTT) gene. This polymorphism has been associated with unipolar depression, bipolar disorder, schizophrenia, and anxiety disorders including OCD.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:17174018"
+},
+{
+  "id": "pmid:10980573",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/10980573",
+  "title": "Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India.",
+  "type": "article-journal",
+  "doi": "10.1038/sj.ejhg.5200515",
+  "authors": [
+    ["S", "Pramanik"],
+    ["P", "Basu"],
+    ["P K", "Gangopadhaya"],
+    ["K K", "Sinha"],
+    ["D K", "Jha"],
+    ["S", "Sinha"],
+    ["S K", "Das"],
+    ["B K", "Maity"],
+    ["S C", "Mukherjee"],
+    ["S", "Roychoudhuri"],
+    ["P P", "Majumder"],
+    ["N P", "Bhattacharyya"]
+  ],
+  "publisher": "European journal of human genetics : EJHG",
+  "issn": "1018-4813",
+  "date": "2000-09-01",
+  "abstract": "We have analysed the distribution of CAG and adjacent polymorphic CCG repeats in the Huntingtin gene in 28 clinically diagnosed unrelated Huntington's disease (HD) patients and in normal individuals belonging to different ethnic groups of India. The range of expanded CAG repeats in HD patients varied from 41 to 56 repeats, whereas in normal individuals this number varied between 11 and 31 repeats. We identified six CCG alleles from a total of 380 normal chromosomes that were pooled across different ethnic populations of India. There were two predominant alleles: (CCG)7 (72.6%) and (CCG)10 (20%). We report here for the first time one four-repeat CCG allele which has not been found in any population so far. We found 30 haplotypes (two loci CAG-CCG) for 380 normal chromosomes. In the present study, no statistically significant preponderance of expanded HD alleles was found on either (CCG)7 or (CCG)10 backgrounds. Our studies suggest that the overall prevalence of HD in Indian populations may not be as high as in Western populations. Further studies are necessary to identify the origin of HD mutation in these populations.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:10980573"
+},
+{
+  "id": "pmid:8898202",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/8898202",
+  "title": "Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice.",
+  "type": "article-journal",
+  "doi": "10.1016/s0092-8674(00)81369-0",
+  "authors": [
+    ["L", "Mangiarini"],
+    ["K", "Sathasivam"],
+    ["M", "Seller"],
+    ["B", "Cozens"],
+    ["A", "Harper"],
+    ["C", "Hetherington"],
+    ["M", "Lawton"],
+    ["Y", "Trottier"],
+    ["H", "Lehrach"],
+    ["S W", "Davies"],
+    ["G P", "Bates"]
+  ],
+  "publisher": "Cell",
+  "issn": "0092-8674",
+  "date": "1996-11-01",
+  "abstract": "Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8898202"
+},
+{
+  "id": "pmid:8714530",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/8714530",
+  "title": "A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea.",
+  "type": "article-journal",
+  "doi": "10.1080/01616412.1996.11740370",
+  "authors": [
+    ["M", "Watanabe"],
+    ["K", "Abe"],
+    ["M", "Aoki"],
+    ["T", "Kameya"],
+    ["Y", "Itoyama"],
+    ["M", "Shoji"],
+    ["M", "Ikeda"],
+    ["T", "Iizuka"],
+    ["S", "Hirai"]
+  ],
+  "publisher": "Neurological research",
+  "issn": "0161-6412",
+  "date": "1996-02-01",
+  "abstract": "A simple and reproducible method of polymerase chain reaction (PCR) assay was established to detect trinucleotide repeat expansion for Huntington's disease (HD) using a new DNA polymerase and buffer system. The system consists of an extremely heat stable DNA polymerase (Pfu), and a buffer supplemented with ammonium sulfate and dimethyl sulfoxide. Previous methods to amplify expanded alleles for HD have been very complex in PCR conditions, but the reproducibility was sometimes very low because of repetitive sequences around the primer sequences. With the present method, strong bands for the disease alleles were reproducibly visible in a conventional agarose gel stained with ethidium bromide without using isotopes. Three cases with sporadic HD and a case with senile chorea showed expanded alleles for HD with smaller sizes of the expansion than cases with typical HD. These results showed that the present method provides a simple and reproducible way to detect HD allele, and some cases with sporadic HD and senile chorea had expanded HD alleles.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8714530"
+},
+{
+  "id": "pmid:8572659",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/8572659",
+  "title": "Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease.",
+  "type": "article-journal",
+  "doi": "10.1002/ana.410390120",
+  "authors": [
+    ["S", "Furtado"],
+    ["O", "Suchowersky"],
+    ["B", "Rewcastle"],
+    ["L", "Graham"],
+    ["M L", "Klimek"],
+    ["A", "Garber"]
+  ],
+  "publisher": "Annals of neurology",
+  "issn": "0364-5134",
+  "date": "1996-01-01",
+  "abstract": "The discovery of the Huntington's disease (HD) gene has provided the impetus to determine the association between the triplet repeat sequences and clinical manifestations of the disease. The present study is directed toward determining the relationship between the triplet repeat sequences and severity of the neurodegenerative process. Nineteen HD postmortem cases were evaluated for neuropathological changes as well as for the number of trinucleotide repeat sequences, each in a blinded fashion. Each case was assigned a gross grade according to the scale of Vonsattel and colleagues (1985); neuronal counts were then performed on both the caudate and the putamen. For 7 of the postmortem cases, blood had been collected prior to death and was analyzed for the HD gene. For the 12 remaining cases for which blood was unavailable, DNA from the frontal neocortex and striatum was extracted from frozen or formalin-fixed paraffinized tissue and subsequently analyzed for the HD gene. When correlation was made for age at death, greater numbers of trinucleotide repeats were associated with greater neuronal loss, in both the caudate (r = 0.9641, p < 0.001) and the putamen (r = 0.9652, p < 0.001). When correction was made for disease duration, the correlation was again significant, for both the caudate (r = 0.6396, p < 0.01) and the putamen (r = 0.6710, p < 0.001). This suggests that in HD, longer trinucleotide repeat length is associated with a faster rate of deterioration and greater pathological severity. A comparison of trinucleotide repeat length in different brain regions in 4 of the HD postmortem cases associated with greater numbers of repeats consistently demonstrated fewer repeats in the cerebellum than in the frontal cortex, striatum or blood.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8572659"
+},
+{
+  "id": "pmid:7480359",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/7480359",
+  "title": "A study on Huntington's disease associated trinucleotide repeat within the Chinese population.",
+  "type": "article-journal",
+  "doi": "",
+  "authors": [
+    ["B W", "Soong"],
+    ["J T", "Wang"]
+  ],
+  "publisher": "Proceedings of the National Science Council, Republic of China. Part B, Life sciences",
+  "issn": "0255-6596",
+  "date": "1995-07-01",
+  "abstract": "Analysis of the polymorphic (CAG)n repeat in the huntingtin gene within the Chinese population in Taiwan confirmed the presence of an expanded repeat on all Huntington's disease (HD) chromosomes. Measurement of the specific CAG repeat sequence in 35 HD chromosomes from 11 unrelated families and 159 control chromosomes showed a range of from 9 to 29 (with a median of 17) repeats in normal subjects and 40 to 58 (with a median of 44) in affected subjects. The size distributions of normal and affected alleles did not overlap. The change in the size of the repeat in the HD size range on transmission for both sexes was variable. The expansion size inversely correlated with age at the onset in HD, especially from the early-onset disease. In summary, the molecular biology of HD is indistinguishable in Chinese and Caucasian populations, but the idea that world-wide HD evolved from a very limited number of European founders is no longer tenable.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7480359"
+},
+{
+  "id": "pmid:7969980",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/7969980",
+  "title": "Normal CAG repeat length in the Huntington's disease gene in senile chorea.",
+  "type": "article-journal",
+  "doi": "10.1212/wnl.44.11.2183",
+  "authors": [
+    ["H", "Shinotoh"],
+    ["D B", "Calne"],
+    ["B", "Snow"],
+    ["M", "Hayward"],
+    ["B", "Kremer"],
+    ["J", "Theilmann"],
+    ["M R", "Hayden"]
+  ],
+  "publisher": "Neurology",
+  "issn": "0028-3878",
+  "date": "1994-11-01",
+  "abstract": "There is a widely held belief that most patients presenting with senile chorea have late-onset Huntington's disease (HD) with an unknown family history. We measured CAG trinucleotide repeat expansion in the HD gene in four patients with a clinical presentation of senile chorea and found that CAG repetition lengths were normal. These findings support senile chorea as being a distinct clinical entity that is nosologically separate from late-onset HD.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:7969980"
+},
+{
+  "id": "pmid:8162053",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/8162053",
+  "title": "A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.",
+  "type": "article-journal",
+  "doi": "10.1093/hmg/3.1.65",
+  "authors": [
+    ["S E", "Andrew"],
+    ["Y P", "Goldberg"],
+    ["J", "Theilmann"],
+    ["J", "Zeisler"],
+    ["M R", "Hayden"]
+  ],
+  "publisher": "Human molecular genetics",
+  "issn": "0964-6906",
+  "date": "1994-01-01",
+  "abstract": "The polymorphic CAG repeat that is expanded on Huntington disease (HD) chromosomes is flanked by a CCG repeat. Here we show that this CCG tract, previously assumed to be invariant at seven CCG repeats, is also polymorphic. We have identified five CCG alleles from 205 normal chromosomes, with 137 (67%) having alleles of seven repeats, five (2%) with nine repeats, 61 (30%) with 10 repeats, one (0.5%) with 11 repeats and one (0.5%) with 12 repeats. In contrast, analysis of 113 HD chromosomes revealed that the majority (105 chromosomes, 93%) contained seven CCG repeats, while the remaining eight chromosomes (7%) had allele sizes of 10 CCG repeats. Despite evidence that both CAG and CCG are polymorphic on normal chromosomes, we have found that it is only the CAG length that has a significant impact on age of onset. The discovery of larger sized CCG alleles, however, has significant implications for the assessment of CAG repeat length, particularly for persons with estimated CAG size of 36-42 repeats, since an overestimation of CAG length in this range could result in erroneous information being imparted to patients.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:8162053"
+},
+{
+  "id": "pmid:35982790",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/35982790",
+  "title": "Detecting tandem repeat variants in coding regions using code-adVNTR.",
+  "type": "article-journal",
+  "doi": "10.1016/j.isci.2022.104785",
+  "authors": [
+    ["Jonghun", "Park"],
+    ["Mehrdad", "Bakhtiari"],
+    ["Bernt", "Popp"],
+    ["Michael", "Wiesener"],
+    ["Vineet", "Bafna"]
+  ],
+  "publisher": "iScience",
+  "issn": "2589-0042",
+  "date": "2022-07-19",
+  "abstract": "The human genome contains more than one million tandem repeats (TRs), DNA sequences containing multiple approximate copies of a motif repeated contiguously. TRs account for significant genetic variation, with 50\u00a0+ diseases attributed to changes in motif number. A few diseases have been to be caused by small indels in variable number tandem repeats (VNTRs) including poly-cystic kidney disease type 1 (MCKD1) and monogenic type 1 diabetes. However, small indels in VNTRs are largely unexplored mainly due to the long and complex structure of VNTRs with multiple motifs. We developed a method, code-adVNTR, that utilizes multi-motif hidden Markov models to detect both, motif count variation and small\u00a0indels, within VNTRs. In simulated data, code-adVNTR outperformed GATK-HaplotypeCaller\u00a0in calling small indels within large VNTRs. We used code-adVNTR to characterize coding VNTRs in the 1000 genomes data identifying many population-specific variants, and to reliably call",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:35982790"
+},
+{
+  "id": "pmid:25101480",
+  "manubot_success": false,
+  "link": "https://pubmed.ncbi.nlm.nih.gov/25101480",
+  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
+{
+  "id": "pmid:31819945",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/31819945",
+  "title": "Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.",
+  "type": "article-journal",
+  "doi": "10.1093/brain/awz372",
+  "authors": [
+    ["Qi-Ying", "Sun"],
+    ["Qian", "Xu"],
+    ["Yun", "Tian"],
+    ["Zheng-Mao", "Hu"],
+    ["Li-Xia", "Qin"],
+    ["Jin-Xia", "Yang"],
+    ["Wen", "Huang"],
+    ["Jin", "Xue"],
+    ["Jin-Chen", "Li"],
+    ["Sheng", "Zeng"],
+    ["Ying", "Wang"],
+    ["Hao-Xuan", "Min"],
+    ["Xiao-Yu", "Chen"],
+    ["Jun-Pu", "Wang"],
+    ["Bin", "Xie"],
+    ["Fan", "Liang"],
+    ["Hai-Nan", "Zhang"],
+    ["Chun-Yu", "Wang"],
+    ["Li-Fang", "Lei"],
+    ["Xin-Xiang", "Yan"],
+    ["Hong-Wei", "Xu"],
+    ["Ran-Hui", "Duan"],
+    ["Kun", "Xia"],
+    ["Jing-Yu", "Liu"],
+    ["Hong", "Jiang"],
+    ["Lu", "Shen"],
+    ["Ji-Feng", "Guo"],
+    ["Bei-Sha", "Tang"]
+  ],
+  "publisher": "Brain : a journal of neurology",
+  "issn": "1460-2156",
+  "date": "2020-01-01",
+  "abstract": "Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5' region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5' region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:31819945"
+},
+{
+  "id": "pmid:38165364",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/38165364",
+  "title": "Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study.",
+  "type": "article-journal",
+  "doi": "10.1212/wnl.0000000000207833",
+  "authors": [
+    ["Rosemarie H M J M", "Kroon"],
+    ["Johanna G", "Kalf"],
+    ["Bert J M", "de Swart"],
+    ["Linda", "Heskamp"],
+    ["Jacky W J", "de Rooy"],
+    ["Baziel G M", "van Engelen"],
+    ["Corinne G C", "Horlings"]
+  ],
+  "publisher": "Neurology",
+  "issn": "1526-632X",
+  "date": "2023-12-14",
+  "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is a rare progressive neuromuscular disease. MRI is one of the techniques that is used in neuromuscular disorders to evaluate muscle alterations. The aim of this study was to describe the pattern of fatty infiltration of orofacial and leg muscles using quantitative muscle MRI in a large national cohort and to determine whether MRI can be used as an imaging biomarker of disease progression in OPMD.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:38165364"
+},
+{
+  "id": "pmid:27980005",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/27980005",
+  "title": "Characterization of",
+  "type": "article-journal",
+  "doi": "10.1136/jim-2016-000184",
+  "authors": [
+    ["Marisa", "Cruz-Aguilar"],
+    ["Caroline", "Guerrero-de Ferran"],
+    ["Jose Luis", "Tovilla-Canales"],
+    ["Angel", "Nava-Casta\u00f1eda"],
+    ["Juan C", "Zenteno"]
+  ],
+  "publisher": "Journal of investigative medicine : the official publication of the American Federation for Clinical Research",
+  "issn": "1708-8267",
+  "date": "2016-12-15",
+  "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 (",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:27980005"
+},
+{
+  "id": "pmid:19641605",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/19641605",
+  "title": "Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1.",
+  "type": "article-journal",
+  "doi": "10.1371/journal.pone.0006418",
+  "authors": [
+    ["Jo\u00e3o Paulo", "Tavanez"],
+    ["Rocio", "Bengoechea"],
+    ["Maria T", "Berciano"],
+    ["Miguel", "Lafarga"],
+    ["Maria", "Carmo-Fonseca"],
+    ["Francisco J", "Enguita"]
+  ],
+  "publisher": "PloS one",
+  "issn": "1932-6203",
+  "date": "2009-07-29",
+  "abstract": "Genomic instability at loci with tandem arrays of simple repeats is the cause for many neurological, neurodegenerative and neuromuscular diseases. When located in coding regions, disease-associated expansions of trinucleotide repeats are translated into homopolymeric amino acid stretches of glutamine or alanine. Polyalanine expansions in the poly(A)-binding protein nuclear 1 (PABPN1) gene causes oculopharyngeal muscular dystrophy (OPMD). To gain novel insight into the molecular pathophysiology of OPMD, we studied the interaction of cellular proteins with normal and expanded PABPN1. Pull-down assays show that heat shock proteins including Hsp70, and type I arginine methyl transferases (PRMT1 and PRMT3) associate preferentially with expanded PABPN1. Immunofluorescence microscopy further reveals accumulation of these proteins at intranuclear inclusions in muscle from OPMD patients. Recombinant PABPN1 with expanded polyalanine stretches binds Hsp70 with higher affinity, and data from molecular simulations suggest that expansions of the PABPN1 polyalanine tract result in transition from a disordered, flexible conformation to a stable helical secondary structure. Taken together, our results suggest that the pathological mutation in the PABPN1 gene alters the protein conformation and induces a preferential interaction with type I PRMTs and Hsp70 chaperones. This in turn causes sequestration in intranuclear inclusions, possibly leading to a progressive cellular defect in arginine methylation and chaperone activity.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:19641605"
+},
+{
+  "id": "pmid:16481821",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/16481821",
+  "title": "A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.",
+  "type": "article-journal",
+  "doi": "10.1097/01.mlg.0000185602.86655.b5",
+  "authors": [
+    ["Nicolas", "G\u00fcrtler"],
+    ["Martina", "Plasilova"],
+    ["Mihael", "Podvinec"],
+    ["Nemya", "Boesch"],
+    ["Hansjakob", "M\u00fcller"],
+    ["Karl", "Heinimann"]
+  ],
+  "publisher": "The Laryngoscope",
+  "issn": "0023-852X",
+  "date": "2006-01-01",
+  "abstract": "Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal limb weakness and is caused by germline mutations (triplet repeat expansions) in the polyadenylate binding protein nuclear 1 (PABPN1) gene.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:16481821"
+},
+{
+  "id": "pmid:29939637",
+  "manubot_success": false,
+  "link": "https://pubmed.ncbi.nlm.nih.gov/29939637",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'pmid:29939637']' timed out after 3 seconds"
+},
+{
+  "id": "pmid:32281848",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/32281848",
+  "title": "Kondo-Induced Giant Isotropic Negative Thermal Expansion.",
+  "type": "article-journal",
+  "doi": "10.1103/physrevlett.124.125701",
+  "authors": [
+    ["D G", "Mazzone"],
+    ["M", "Dzero"],
+    ["Am M", "Abeykoon"],
+    ["H", "Yamaoka"],
+    ["H", "Ishii"],
+    ["N", "Hiraoka"],
+    ["J-P", "Rueff"],
+    ["J M", "Ablett"],
+    ["K", "Imura"],
+    ["H S", "Suzuki"],
+    ["J N", "Hancock"],
+    ["I", "Jarrige"]
+  ],
+  "publisher": "Physical review letters",
+  "issn": "1079-7114",
+  "date": "2020-03-27",
+  "abstract": "Negative thermal expansion is an unusual phenomenon appearing in only a handful of materials, but pursuit and mastery of the phenomenon holds great promise for applications across disciplines and industries. Here we report use of x-ray spectroscopy and diffraction to investigate the 4f-electronic properties in Y-doped SmS and employ the Kondo volume collapse model to interpret the results. Our measurements reveal an unparalleled decrease of the bulk Sm valence by over 20% at low temperatures in the mixed-valent golden phase, which we show is caused by a strong coupling between an emergent Kondo lattice state and a large isotropic volume change. The amplitude and temperature range of the negative thermal expansion appear strongly dependent on the Y concentration and the associated chemical disorder, providing control over the observed effect. This finding opens avenues for the design of Kondo lattice materials with tunable, giant, and isotropic negative thermal expansion.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:32281848"
+},
+{
+  "id": "pmid:12460463",
+  "manubot_success": true,
+  "link": "https://www.ncbi.nlm.nih.gov/pubmed/12460463",
+  "title": "Functional polymorphism of the thymidylate synthase gene in colorectal cancer accompanied by frequent loss of heterozygosity.",
+  "type": "article-journal",
+  "doi": "10.1111/j.1349-7006.2002.tb01227.x",
+  "authors": [
+    ["Kazuyuki", "Kawakami"],
+    ["Yoshinori", "Ishida"],
+    ["Kathleen D", "Danenberg"],
+    ["Kenji", "Omura"],
+    ["Go", "Watanabe"],
+    ["Peter V", "Danenberg"]
+  ],
+  "publisher": "Japanese journal of cancer research : Gann",
+  "issn": "0910-5050",
+  "date": "2002-11-01",
+  "abstract": "The thymidylate synthase (TS) gene has a polymorphic repeated sequence in its 5'-untranslated region. The repeat length is associated with TS protein expression, which suggests that we may be able to predict the efficacy of 5-fluorouracil (5-FU)-based chemotherapy from a patient's TS genotype determined through analysis of normal tissue obtained non-invasively. However, it is not yet elucidated whether the TS genotype is identical in tumor and normal tissue. In this study, we investigated the TS genotype in 151 matched tumor and normal DNA samples isolated from colorectal cancer and adjacent normal tissues by PCR analysis. The results showed that TS genotypes are identical in normal and tumor tissues of homozygous individuals, suggesting that the repeat sequence is stable through carcinogenesis. However, in heterozygous samples, an imbalance between the 2R and 3R alleles in the tumor DNA was frequently observed, suggesting loss of heterozygosity (LOH) at the TS locus. Detailed LOH analysis revealed that 62% (31 of 50) of 2R/3R-heterozygous samples had LOH. Frequent LOH at the TS locus was confirmed by RT-PCR of TS mRNA and microsatellite analysis using the marker D18S59, located on 18p11.3. There was no difference in the expressions of TS mRNA and TS protein between LOH and non-LOH samples. However, when the heterozygous genotype bearing LOH was subdivided according to the number of repeats, the cancer tissue with 2R/loss genotype expressed a significantly lower level of TS protein than did that with 3R/loss genotype. The results suggest that the difference in TS genotype between tumor and normal tissue due to LOH should be considered when the genotype is analyzed with normal tissue, such as peripheral blood cells, because it is important for TS protein expression.",
+  "language": "en",
+  "note": "This CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: pubmed:12460463"
+},
+{
+  "id": "pmid:39666847",
+  "manubot_success": false,
+  "link": "https://pubmed.ncbi.nlm.nih.gov/39666847",
+  "note": "WARNING: Couldn't parse Manubot response: list index out of range"
+},
+{
+  "id": "genereviews:NBK1491",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1491",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1491']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1466",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1466",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1466']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1123",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1123",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1123']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1487",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1487",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1487']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1119",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1119",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1119']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1384",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1384",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1384']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1281",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1281",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1281']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1305",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1305",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1305']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1126",
+  "manubot_success": false,
+  "link": "https://www.ncbi.nlm.nih.gov/books/NBK1126",
+  "note": "WARNING: Manubot could not generate citation: Command '['manubot', 'cite', 'url:https://www.ncbi.nlm.nih.gov/books/NBK1126']' timed out after 3 seconds"
+},
+{
+  "id": "genereviews:NBK1427",
+  "manubot_success": true,
+  "link": "http://www.ncbi.nlm.nih.gov/books/NBK1427/",
+  "title": "Congenital Central Hypoventilation Syndrome",
+  "type": "chapter",
+  "doi": "",
+  "authors": [
+    ["Debra E.", "Weese-Mayer"],
+    ["Casey M.", "Rand"],
+    ["Ilya", "Khaytin"],
+    ["Susan M.", "Slattery"],
+    ["Kai Lee", "Yap"],
+    ["Mary L.", "Marazita"],
+    ["Elizabeth M.", "Berry-Kravis"]
+  ],
+  "publisher": "GeneReviews\u00ae",
+  "issn": "",
+  "date": "1993-01-01",
+  "abstract": "Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD., The diagnosis of CCHS is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant identified on molecular genetic testing., Treatment of manifestations: Management by multidisciplinary specialists, including pediatric pulmonology, sleep medicine, cardiology, oncology, ophthalmology, gastroenterology, neurodevelopmental psychology, and neurology, is recommended. The treatment goals for CCHS are to secure the airway and to use chronic artificial ventilatory support at home to compensate for the hypoventilation and the altered/absent ventilatory responses to hypoxemia and hypercarbia. Prolonged transient asystoles that may present as syncope and/or staring spells and are of significant duration (\u22653.0 seconds) may warrant placement of a cardiac pacemaker; abnormal pupillary reactivity may necessitate protective eye wear given the amount of light exposure in daily life from LED lights, and screen time in educational settings, computer-based work environments, and mobile devices. Other findings treated as per standard practice include Hirschsprung disease and other gastrointestinal motility issues; tumors of neural crest origin; and cognitive impairment/delay. Surveillance: Assess every six months for the first three years, then annually thereafter: (1) in a pediatric respiratory physiology laboratory spontaneous breathing awake (in varied age-appropriate activities of daily living during the daytime and before sleep) and asleep, with recording of respiratory inductance plethysmography of the chest and abdomen, hemoglobin saturation with pulse waveform, end-tidal carbon dioxide level with visible waveform, electrocardiogram, blood pressure, cerebral regional blood flow/oxygenation, and appropriate sleep state staging measures; (2) hemoglobin/hematocrit and reticulocyte count for polycythemia; (3) 72-hour Holter recording for abrupt, prolonged asystoles; (4) echocardiogram changes consistent with right ventricular hypertrophy and cor pulmonale; (5) neurocognitive assessment/educational needs; and (6) comprehensive age-appropriate noninvasive autonomic testing. Agents/circumstances to avoid: Swimming and breath-holding contests (risk of asphyxia, death); alcohol (respiratory depression), recreational drugs (varied effects including death), and prescription as well as non-prescription medications/sedatives/anesthetics that could induce respiratory depression. Evaluation of relatives at risk: It is appropriate to clarify the genetic status of parents, sibs, and offspring of an individual with CCHS in order to identify as early as possible family members who would benefit from prompt initiation of treatment, surveillance, and awareness of agents/circumstances to avoid., CCHS is typically inherited in an autosomal dominant manner (CCHS caused by biallelic reduced penetrance PHOX2B pathogenic variants has been reported in two families). The majority of affected individuals have the disorder as the result of a de novo pathogenic variant. Somatic/germline mosaicism is present in 5%-25% of asymptomatic parents. If a parent of the proband is known to be heterozygous for the PHOX2B pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%. Once the PHOX2B pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible (because of the high frequency of parental mosaicism in CCHS, a fetus should be considered at risk for CCHS even if the PHOX2B pathogenic variant detected in the proband was not identified in either parent).",
+  "language": "eng",
+  "note": "PMID: 20301600\nThis CSL Item was generated by Manubot v0.6.1 from its persistent identifier (standard_id).\nstandard_id: url:https://www.ncbi.nlm.nih.gov/books/NBK1427"
+},
 {
   "id": "isbn:978-3-031-66932-3",
   "manubot_success": false,
diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
index a15a6db5..be8f38ee 100644
--- a/data/STRchive-loci.json
+++ b/data/STRchive-loci.json
@@ -1008,7 +1008,7 @@
   "webstr_hg19": ["Expansion_SCA6/CACNA1A"],
   "locus_tags": ["supported_evidence", "length_affects_phenotype", "length_affects_penetrance", "length_affects_onset"],
   "disease_tags": ["spinocerebellar_ataxia"],
-  "references": ["genereviews:NBK1140", "pmid:23331413", "doi:10.1212/NXG.0000000000200245", "pmid:29100084", "pmid:8988170", "mondo:0008457"],
+  "references": ["genereviews:NBK1140", "pmid:23331413", "doi:10.1212/NXG.0000000000200245", "pmid:29100084", "pmid:8988170", "mondo:0008457", "pmid:41358280"],
   "additional_literature": ["pmid:41358280", "pmid:41082794", "pmid:41009775", "pmid:40906330", "pmid:40900235", "pmid:40879304", "pmid:40746751", "pmid:40488180", "pmid:40189664", "pmid:39812846", "pmid:39571249", "pmid:39152783", "pmid:39048885", "pmid:38961870", "pmid:38227102", "pmid:38165578", "pmid:38152578", "pmid:37848721", "pmid:37307504", "pmid:37301203", "pmid:36618024", "pmid:36599645", "pmid:36530930", "pmid:35962273", "pmid:35188716", "pmid:35182509", "pmid:35052497", "pmid:34647648", "pmid:34600502", "pmid:34565721", "pmid:34371182", "pmid:34159894", "pmid:33502644", "pmid:33121221", "pmid:32888184", "pmid:32822634", "pmid:31522753", "pmid:30891880", "pmid:30591349", "pmid:30342765", "pmid:30314815", "pmid:30120431", "pmid:30078120", "pmid:29959555", "pmid:29553382", "pmid:29367260", "pmid:29316893", "pmid:29249939", "pmid:29111027", "pmid:29057148", "pmid:28946818", "pmid:28782341", "pmid:28585930", "pmid:28444220", "pmid:28131213", "pmid:27979829", "pmid:27896316", "pmid:27848087", "pmid:27806289", "pmid:27412786", "pmid:27400454", "pmid:27333979", "pmid:26730403", "pmid:26377379", "pmid:26374734", "pmid:26354989", "pmid:26077168", "pmid:26054379", "pmid:25634432", "pmid:25624155", "pmid:25466696", "pmid:24780882", "pmid:24534762", "pmid:24486772", "pmid:24209901", "pmid:23423669", "pmid:23407676", "pmid:23368522", "pmid:23026538", "pmid:22520093", "pmid:26859398", "pmid:26676458", "pmid:21832228", "pmid:21550405", "pmid:20069235", "pmid:19631275", "pmid:19429075", "pmid:19259763", "pmid:19224313", "pmid:18949263", "pmid:18759344", "pmid:18687887", "pmid:18685131", "pmid:18684474", "pmid:18506570", "pmid:18418678", "pmid:18285829", "pmid:18074367", "pmid:17961920", "pmid:17682009", "pmid:17516099", "pmid:17420317", "pmid:16396623", "pmid:16389595", "pmid:16310805", "pmid:16000334", "pmid:15875905", "pmid:15747371", "pmid:15553088", "pmid:15148151", "pmid:15080863", "pmid:15026782", "pmid:14967767", "pmid:14966163", "pmid:14756671", "pmid:14534930", "pmid:12810491", "pmid:12764052", "pmid:12676347", "pmid:12614315", "pmid:12545428", "pmid:11939898", "pmid:11889231", "pmid:11839840", "pmid:11804332", "pmid:11717352", "pmid:11708993", "pmid:11448300", "pmid:11355155", "pmid:11341481", "pmid:11311290", "pmid:11176970", "pmid:11160961", "pmid:10369884", "pmid:11081813", "pmid:11030410", "pmid:10985694", "pmid:10964945", "pmid:10945665", "pmid:10942107", "pmid:10894992", "pmid:10785256", "pmid:10768629", "pmid:10766906", "pmid:10690991", "pmid:10674974", "pmid:10601803", "pmid:10453742", "pmid:10442462", "pmid:10369863", "pmid:10369828", "pmid:10366652", "pmid:10225349", "pmid:9973298", "pmid:9915947", "pmid:9879686", "pmid:9855520", "pmid:9779664", "pmid:9758625", "pmid:9741473", "pmid:9696528", "pmid:9674805", "pmid:9613852", "pmid:9600677", "pmid:9559993", "pmid:9507387", "pmid:9436730", "pmid:9385362", "pmid:9371901", "pmid:9371900", "pmid:9403486", "pmid:9403480", "pmid:9345107", "pmid:9339681", "pmid:9302278", "pmid:9311738", "pmid:9259275", "pmid:9259274", "pmid:10464657", "pmid:9043864"]
 },
 {
@@ -1663,7 +1663,7 @@
   "webstr_hg19": [],
   "locus_tags": ["supported_evidence", "maternal_expansion", "length_affects_onset", "length_affects_penetrance", "motif_affects_penetrance", "length_affects_phenotype"],
   "disease_tags": ["spinocerebellar_ataxia"],
-  "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:38937606", "pmid:39604554", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:36493768", "pmid:39349043", "doi:10.1212/NXG.0000000000200253"],
+  "references": ["genereviews:NBK599589", "pmid:39263992", "pmid:36516086", "pmid:37399286", "pmid:39227614", "pmid:40007153", "pmid:38937606", "pmid:39604554", "pmid:41327893", "pmid:41277530", "pmid:38876750", "pmid:38886208", "pmid:37267898", "pmid:36493768", "pmid:39349043", "doi:10.1212/NXG.0000000000200253"],
   "additional_literature": ["pmid:41327893", "pmid:41277530", "pmid:41118032", "pmid:41065930", "pmid:41055766", "pmid:40974444", "pmid:40906330", "pmid:40898875", "pmid:40894141", "pmid:40879304", "pmid:40835733", "pmid:40679574", "pmid:40637932", "pmid:40623333", "pmid:40579842", "pmid:40556471", "pmid:40488180", "pmid:40379261", "pmid:40273470", "pmid:40239008", "pmid:40191983", "pmid:40141365", "pmid:40024931", "pmid:40017559", "pmid:39996128", "pmid:39821862", "pmid:39801711", "pmid:39723156", "pmid:39666057", "pmid:39666053", "pmid:39574782", "pmid:39571249", "pmid:39392764", "pmid:39378335", "pmid:39152783", "pmid:39006414", "pmid:38976084", "pmid:38949032", "pmid:38866925", "pmid:38816190", "pmid:38513302", "pmid:38487929", "pmid:38472396", "pmid:38405699", "pmid:38381176", "pmid:38221848", "pmid:38170134", "pmid:38150853", "pmid:38058854", "pmid:37916889", "pmid:37646005", "pmid:37578187", "pmid:37577458", "pmid:37322040", "pmid:37165652", "pmid:32717741", "pmid:30017992", "pmid:28444220", "pmid:26677414", "pmid:26149656", "pmid:15470364", "pmid:15148151"]
 },
 {