{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:32:59Z","timestamp":1761197579730},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurology and Neurosurgery"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1016\/j.clineuro.2018.09.012","type":"journal-article","created":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T16:36:17Z","timestamp":1536338177000},"page":"48-56","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting"],"prefix":"10.1016","volume":"174","author":[{"given":"Madhu","family":"Nagappa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parayil Sankaran","family":"Bindu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjib","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavagada S.","family":"Mathuranath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun B.","family":"Taly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.clineuro.2018.09.012_bib0005","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/nyas.12850","article-title":"Clinical exome sequencing in neurogenetic and neuropsychiatric disorders","volume":"1366","author":"Fogel","year":"2016","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"6","key":"10.1016\/j.clineuro.2018.09.012_bib0010","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing","volume":"17","author":"Xue","year":"2015","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.clineuro.2018.09.012_bib0015","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1212\/NXG.0000000000000037","article-title":"Whole-exome sequencing in neurologic practice: reducing the diagnostic odyssey","volume":"1","author":"Johnson","year":"2015","journal-title":"Neurol. Genet."},{"issue":"9","key":"10.1016\/j.clineuro.2018.09.012_bib0020","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1186\/gb-2011-12-9-228","article-title":"Unlocking Mendelian disease using exome sequencing","volume":"12","author":"Gilissen","year":"2011","journal-title":"Genome Biol."},{"issue":"7","key":"10.1016\/j.clineuro.2018.09.012_bib0025","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1177\/0883073815627880","article-title":"Whole exome sequencing in pediatric neurology patients: clinical implications and estimated cost analysis","volume":"31","author":"Nolan","year":"2016","journal-title":"J. Child Neurol."},{"issue":"4","key":"10.1016\/j.clineuro.2018.09.012_bib0030","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/ana.24251","article-title":"Clinical whole exome sequencing in child neurology practice","volume":"76","author":"Srivastava","year":"2014","journal-title":"Ann. Neurol."},{"issue":"10","key":"10.1016\/j.clineuro.2018.09.012_bib0035","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1038\/ejhg.2012.297","article-title":"Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process","volume":"21","author":"Ayuso","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.clineuro.2018.09.012_bib0040","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"September (3)","key":"10.1016\/j.clineuro.2018.09.012_bib0045","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/humu.20210","article-title":"UMD (Universal Mutation Database): 2005 update","volume":"26","author":"B\u00e9roud","year":"2005","journal-title":"Hum. Mutat."},{"issue":"20","key":"10.1016\/j.clineuro.2018.09.012_bib0050","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N. Engl. J. Med."},{"issue":"9975","key":"10.1016\/j.clineuro.2018.09.012_bib0055","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","article-title":"Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data","volume":"385","author":"Wright","year":"2015","journal-title":"Lancet"},{"issue":"23","key":"10.1016\/j.clineuro.2018.09.012_bib0060","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1056\/NEJMoa1515792","article-title":"Exome Sequencing and the Management of Neurometabolic Disorders","volume":"374","author":"Tarailo-Graovac","year":"2016","journal-title":"N. Engl. J. Med."},{"issue":"18","key":"10.1016\/j.clineuro.2018.09.012_bib0065","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"issue":"18","key":"10.1016\/j.clineuro.2018.09.012_bib0070","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare Mendelian disorders","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA"},{"issue":"5","key":"10.1016\/j.clineuro.2018.09.012_bib0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0156359","article-title":"Targeted next generation sequencing in patients with inborn errors of metabolism","volume":"11","author":"Yubero","year":"2016","journal-title":"PLoS One"},{"issue":"12","key":"10.1016\/j.clineuro.2018.09.012_bib0080","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/gim.2014.58","article-title":"The usefulness of whole-exome sequencing in routine clinical practice","volume":"16","author":"Iglesias","year":"2014","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.clineuro.2018.09.012_bib0085","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.mayocp.2015.12.018","article-title":"Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the mayo clinic experience","volume":"91","author":"Lazaridis","year":"2016","journal-title":"Mayo Clin. Proc."},{"issue":"138","key":"10.1016\/j.clineuro.2018.09.012_bib0090","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3003544","article-title":"Exome sequencing can improve diagnosis and alter patient management","volume":"4","author":"Dixon-Salazar","year":"2012","journal-title":"Sci. Transl. Med."},{"issue":"Pt 10","key":"10.1016\/j.clineuro.2018.09.012_bib0095","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1093\/brain\/awt236","article-title":"Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model","volume":"136","author":"Nemeth","year":"2013","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.clineuro.2018.09.012_bib0100","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/ana.24650","article-title":"Whole exome sequencing in patients with white matter abnormalities","volume":"79","author":"Vanderver","year":"2016","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.clineuro.2018.09.012_bib0105","doi-asserted-by":"crossref","DOI":"10.1155\/2016\/4548039","article-title":"Clinical use of next-generation sequencing in the diagnosis of Wilson\u2019s disease","volume":"2016","author":"Nemeth","year":"2016","journal-title":"Gastroenterol. Res. Pract."},{"issue":"1","key":"10.1016\/j.clineuro.2018.09.012_bib0110","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1212\/WNL.0000000000002800","article-title":"The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients","volume":"87","author":"Savarese","year":"2016","journal-title":"Neurology."},{"issue":"2","key":"10.1016\/j.clineuro.2018.09.012_bib0115","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1212\/CPJ.0000000000000239","article-title":"Clinical exome sequencing in neurologic disease","volume":"6","author":"Fogel","year":"2016","journal-title":"Neurol. Clin. Pract."},{"issue":"4","key":"10.1016\/j.clineuro.2018.09.012_bib0120","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1212\/NXG.0000000000000032","article-title":"Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy","volume":"1","author":"Schottmann","year":"2015","journal-title":"Neurol. Genet."},{"issue":"4","key":"10.1016\/j.clineuro.2018.09.012_bib0125","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000034","article-title":"Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies","volume":"1","author":"Shieh","year":"2015","journal-title":"Neurol. Genet."},{"issue":"16","key":"10.1016\/j.clineuro.2018.09.012_bib0130","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.clineuro.2018.09.012_bib0135","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1101\/gr.183483.114","article-title":"Actionable exomic incidental findings in 6503 participants: challenges of variant classification","volume":"25","author":"Amendola","year":"2015","journal-title":"Genome Res."},{"issue":"4","key":"10.1016\/j.clineuro.2018.09.012_bib0140","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.ajhg.2013.08.006","article-title":"Actionable, pathogenic incidental findings in 1,000 participants\u2019 exomes","volume":"93","author":"Dorschner","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.clineuro.2018.09.012_bib0145","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/5.2.249","article-title":"Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients","volume":"5","author":"Wilson","year":"1996","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.clineuro.2018.09.012_bib0150","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ygeno.2013.04.012","article-title":"Translational utility of next-generation sequencing","volume":"102","author":"Ong","year":"2013","journal-title":"Genomics."},{"issue":"3","key":"10.1016\/j.clineuro.2018.09.012_bib0155","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ygeno.2013.04.013","article-title":"Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome","volume":"102","author":"Dinwiddie","year":"2013","journal-title":"Genomics."}],"container-title":["Clinical Neurology and Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846718303743?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846718303743?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T11:38:02Z","timestamp":1540294682000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303846718303743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":31,"alternative-id":["S0303846718303743"],"URL":"https:\/\/doi.org\/10.1016\/j.clineuro.2018.09.012","relation":{},"ISSN":["0303-8467"],"issn-type":[{"type":"print","value":"0303-8467"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurology and Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clineuro.2018.09.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}