{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:41:23Z","timestamp":1790422883399,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Over 100 genetically distinct causal known loci for hereditary ataxia phenotype poses a challenge for diagnostic work\u2010up for ataxia patients in a clinically relevant time and precision. In the present study using next\u2010generation sequencing, we have investigated pathogenic variants in early\u2010onset cerebellar ataxia cases using whole exome sequencing in singleton\/family\u2010designed and targeted gene\u2010panel sequencing. A total of 98 index patients were clinically and genetically (whole exome sequencing (WES) in 16 patients and targeted gene panel of 41 ataxia causing genes in 82 patients) evaluated. Four families underwent WES in family based design. Overall, we have identified 24 variants comprising 20 pathogenic and four likely\u2010pathogenic both rare\/novel, variations in 21 early onset cerebellar ataxia patients. Among the identified variations,\n                    <jats:italic>SACS<\/jats:italic>\n                    (n = 7) and\n                    <jats:italic>SETX<\/jats:italic>\n                    (n = 6) were frequent, while\n                    <jats:italic>ATM<\/jats:italic>\n                    (n = 2),\n                    <jats:italic>TTPA<\/jats:italic>\n                    (n = 2) and other rare loci were observed. We have prioritized novel pathogenic variants in\n                    <jats:italic>RARS2<\/jats:italic>\n                    and\n                    <jats:italic>FA2H<\/jats:italic>\n                    loci through family based design in two out of four families.\n                  <\/jats:p>","DOI":"10.1111\/cge.13625","type":"journal-article","created":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T11:29:36Z","timestamp":1566300576000},"page":"566-574","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia"],"prefix":"10.1111","volume":"96","author":[{"given":"Sunil","family":"Shakya","sequence":"first","affiliation":[{"name":"Department of Neurology, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Kumari","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB)  Delhi India"},{"name":"CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB) Academy of Scientific and Innovative Research(AcSIR)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varun","family":"Suroliya","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishu","family":"Tyagi","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB)  Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Joshi","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB)  Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Garg","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inder","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Kalikavil Puthanveedu","sequence":"additional","affiliation":[{"name":"Department of Neurology Sree Chitra Tirunal Institute of Medical Sciences and Technology  Trivandrum 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