{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:01:01Z","timestamp":1791824461549,"version":"4.3.4"},"reference-count":60,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,7,25]],"date-time":"2018-07-25T00:00:00Z","timestamp":1532476800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,7,25]],"date-time":"2018-07-25T00:00:00Z","timestamp":1532476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011272","name":"FP7 Health","doi-asserted-by":"publisher","award":["2012-305121"],"award-info":[{"award-number":["2012-305121"]}],"id":[{"id":"10.13039\/100011272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NeurOmics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1002\/humu.23560","type":"journal-article","created":{"date-parts":[[2018,6,2]],"date-time":"2018-06-02T05:59:07Z","timestamp":1527919147000},"page":"1284-1298","source":"Crossref","is-referenced-by-count":55,"title":["Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies"],"prefix":"10.1155","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5395-8894","authenticated-orcid":false,"given":"Mert","family":"Karakaya","sequence":"first","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Storbeck","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eike A.","family":"Strathmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Delle Vedove","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irmgard","family":"H\u00f6lker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altmueller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"},{"name":"Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Naghiyeva","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Schmitz-Steinkr\u00fcger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vezyroglou","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Motameny","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salem","family":"Alawbathani","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse Ipek","family":"Polat","sequence":"additional","affiliation":[{"name":"Dokuz Eyl\u00fcl University; Department of Pediatric Neurology; Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derya","family":"Okur","sequence":"additional","affiliation":[{"name":"Dokuz Eyl\u00fcl University; Department of Pediatric Neurology; Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Boostani","sequence":"additional","affiliation":[{"name":"Mashhad University of Medical Sciences; Department of Neurology; Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Next Generation Genetic Polyclinic; Mashhad Iran"},{"name":"Razavi Cancer Research Center; Razavi Hospital; Imam Reza International University; Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Wunderlich","sequence":"additional","affiliation":[{"name":"University Hospital Cologne; Department of Neurology; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didem","family":"Ardicli","sequence":"additional","affiliation":[{"name":"Hacettepe University; Department of Pediatric Neurology; Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Hacettepe University; Department of Pediatric Neurology; Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders; Faculty of Medicine; Medical Center; University of Freiburg; Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertold","family":"Schrank","sequence":"additional","affiliation":[{"name":"DKD HELIOS Kliniken; Department of Neurology; Wiesbaden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Cell Sciences Research Centre; St George's University of London; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olafur","family":"Magnusson","sequence":"additional","affiliation":[{"name":"deCODE Genetics\/Amgen, Inc; Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uluc","family":"Yis","sequence":"additional","affiliation":[{"name":"Dokuz Eyl\u00fcl University; Department of Pediatric Neurology; Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul","family":"Heller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5191","authenticated-orcid":false,"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics; Center for Molecular Medicine Cologne; Institute of Genetics, and Center for Rare Diseases Cologne; University of Cologne; Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,25]]},"reference":[{"issue":"11","key":"10.1002\/humu.23560-BIB0001|humu23560-cit-0001","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1001\/jamaneurol.2014.1432","article-title":"Expanding the phenotype associated with the NEFL mutation: Neuromuscular disease in a family with overlapping myopathic and neurogenic findings","volume":"71","author":"Agrawal","year":"2014","journal-title":"JAMA Neurology"},{"issue":"2","key":"10.1002\/humu.23560-BIB0002|humu23560-cit-0002","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ana.24303","article-title":"A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield","volume":"77","author":"Ankala","year":"2015","journal-title":"Annals in Neurology"},{"key":"10.1002\/humu.23560-BIB0003|humu23560-cit-0003","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s12881-015-0224-8","article-title":"Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability","volume":"16","author":"Antoniadi","year":"2015","journal-title":"BMC Medical Genetics"},{"issue":"13","key":"10.1002\/humu.23560-BIB0004|humu23560-cit-0004","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","article-title":"Mutations in SACS cause atypical and late-onset forms of ARSACS","volume":"75","author":"Baets","year":"2010","journal-title":"Neurology"},{"issue":"13","key":"10.1002\/humu.23560-BIB0005|humu23560-cit-0005","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1212\/WNL.0000000000003772","article-title":"Genetic heterogeneity of motor neuropathies","volume":"88","author":"Bansagi","year":"2017","journal-title":"Neurology"},{"issue":"6","key":"10.1002\/humu.23560-BIB0006|humu23560-cit-0006","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.ajhg.2012.09.019","article-title":"Defective presynaptic choline transport underlies hereditary motor neuropathy","volume":"91","author":"Barwick","year":"2012","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1002\/humu.23560-BIB0007|humu23560-cit-0007","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.ajhg.2016.06.033","article-title":"Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea","volume":"99","author":"Bauche","year":"2016","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1002\/humu.23560-BIB0008|humu23560-cit-0008","doi-asserted-by":"crossref","first-page":"193","DOI":"10.3233\/JND-150092","article-title":"Diagnostic use of massively parallel sequencing in neuromuscular diseases: Towards an integrated diagnosis","volume":"2","author":"Biancalana","year":"2015","journal-title":"Journal of Neuromuscular Disorders"},{"issue":"6","key":"10.1002\/humu.23560-BIB0009|humu23560-cit-0009","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1016\/j.ajhg.2016.11.009","article-title":"Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis","volume":"99","author":"Delle Vedove","year":"2016","journal-title":"American Journal of Human Genetics"},{"issue":"9","key":"10.1002\/humu.23560-BIB0010|humu23560-cit-0010","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: An online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Research"},{"issue":"5","key":"10.1002\/humu.23560-BIB0011|humu23560-cit-0011","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/jnc.14217","article-title":"Frequent genes in rare diseases: Panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies","volume":"143","author":"Dohrn","year":"2017","journal-title":"Journal of Neurochemistry"},{"issue":"2","key":"10.1002\/humu.23560-BIB0012|humu23560-cit-0012","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The genetics of spinal muscular atrophy: progress and challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics"},{"issue":"18","key":"10.1002\/humu.23560-BIB0013|humu23560-cit-0013","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"New England Journal of Medicine"},{"key":"10.1002\/humu.23560-BIB0014|humu23560-cit-0014","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/0471142905.hg0723s81","article-title":"Using XHMM software to detect copy number variation in whole-exome sequencing data","volume":"81","author":"Fromer","year":"2014","journal-title":"Current Protocols in Human Genetics"},{"issue":"11","key":"10.1002\/humu.23560-BIB0015|humu23560-cit-0015","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1038\/nbt.2403","article-title":"Assuring the quality of next-generation sequencing in clinical laboratory practice","volume":"30","author":"Gargis","year":"2012","journal-title":"Nature Biotechnology"},{"issue":"6-7","key":"10.1002\/humu.23560-BIB0016|humu23560-cit-0016","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.neurol.2015.02.019","article-title":"Clinical massively parallel sequencing for the diagnosis of myopathies","volume":"171","author":"Gorokhova","year":"2015","journal-title":"Revue Neurologique (Paris)"},{"issue":"2","key":"10.1002\/humu.23560-BIB0017|humu23560-cit-0017","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/cge.13101","article-title":"Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families","volume":"93","author":"Hartley","year":"2017","journal-title":"Clinical Genetics"},{"issue":"3","key":"10.1002\/humu.23560-BIB0018|humu23560-cit-0018","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.ajhg.2014.08.007","article-title":"Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy","volume":"95","author":"Herrmann","year":"2014","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"10.1002\/humu.23560-BIB0019|humu23560-cit-0019","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s40265-017-0711-7","article-title":"Nusinersen: First global approval","volume":"77","author":"Hoy","year":"2017","journal-title":"Drugs"},{"key":"10.1002\/humu.23560-BIB0020|humu23560-cit-0020","doi-asserted-by":"crossref","first-page":"210401","DOI":"10.1155\/2014\/210401","article-title":"Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing","volume":"2014","author":"Hoyer","year":"2014","journal-title":"Biomed Research International"},{"issue":"3","key":"10.1002\/humu.23560-BIB0021|humu23560-cit-0021","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nature Genetics"},{"issue":"D1","key":"10.1002\/humu.23560-BIB0022|humu23560-cit-0022","doi-asserted-by":"crossref","first-page":"D865","DOI":"10.1093\/nar\/gkw1039","article-title":"The Human Phenotype Ontology in 2017","volume":"45","author":"Kohler","year":"2017","journal-title":"Nucleic Acids Research"},{"issue":"2","key":"10.1002\/humu.23560-BIB0023|humu23560-cit-0023","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.nmd.2013.10.010","article-title":"Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy","volume":"24","author":"Komlosi","year":"2014","journal-title":"Neuromuscular Disorders"},{"key":"10.1002\/humu.23560-BIB0024|humu23560-cit-0024","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3389\/fnmol.2016.00092","article-title":"Rare variants in neurodegeneration associated genes revealed by targeted panel sequencing in a German ALS cohort","volume":"9","author":"Kruger","year":"2016","journal-title":"Frontiers in Molecular Neuroscience"},{"issue":"8","key":"10.1002\/humu.23560-BIB0025|humu23560-cit-0025","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1101\/gr.138115.112","article-title":"Copy number variation detection and genotyping from exome sequence data","volume":"22","author":"Krumm","year":"2012","journal-title":"Genome Research"},{"issue":"5","key":"10.1002\/humu.23560-BIB0026|humu23560-cit-0026","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/jhg.2015.16","article-title":"A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing","volume":"60","author":"Kubo","year":"2015","journal-title":"Journal of Human Genetics"},{"issue":"1","key":"10.1002\/humu.23560-BIB0027|humu23560-cit-0027","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s13023-016-0500-5","article-title":"Improving diagnosis of inherited peripheral neuropathies through gene panel analysis","volume":"11","author":"Lassuthova","year":"2016","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"1","key":"10.1002\/humu.23560-BIB0028|humu23560-cit-0028","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1002\/humu.23560-BIB0029|humu23560-cit-0029","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/s41431-018-0115-5","article-title":"RD-Connect, NeurOmics and EURenOmics: Collaborative European initiative for rare diseases","volume":"26","author":"Lochmuller","year":"2018","journal-title":"European Journal of Human Genetics"},{"issue":"2","key":"10.1002\/humu.23560-BIB0030|humu23560-cit-0030","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.jmoldx.2015.10.005","article-title":"Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and hereditary motor neuropathy","volume":"18","author":"Lupo","year":"2016","journal-title":"Journal of Molecular Diagnostics"},{"issue":"18","key":"10.1002\/humu.23560-BIB0031|humu23560-cit-0031","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"New England Journal of Medicine"},{"issue":"2","key":"10.1002\/humu.23560-BIB0032|humu23560-cit-0032","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscular Disorders"},{"issue":"6","key":"10.1002\/humu.23560-BIB0033|humu23560-cit-0033","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1016\/j.ajhg.2013.04.011","article-title":"Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy","volume":"92","author":"Neveling","year":"2013","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"10.1002\/humu.23560-BIB0034|humu23560-cit-0034","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.ajhg.2013.04.018","article-title":"Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia","volume":"92","author":"Oates","year":"2013","journal-title":"American Journal of Human Genetics"},{"issue":"Pt 11","key":"10.1002\/humu.23560-BIB0035|humu23560-cit-0035","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/brain\/awu169","article-title":"Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies","volume":"137","author":"Peeters","year":"2014","journal-title":"Brain"},{"issue":"6","key":"10.1002\/humu.23560-BIB0036|humu23560-cit-0036","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ajhg.2013.04.013","article-title":"Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance","volume":"92","author":"Peeters","year":"2013","journal-title":"American Journal of Human Genetics"},{"issue":"21","key":"10.1002\/humu.23560-BIB0037|humu23560-cit-0037","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count data in exome sequencing experiments and implications for copy number variant calling","volume":"28","author":"Plagnol","year":"2012","journal-title":"Bioinformatics"},{"issue":"11","key":"10.1002\/humu.23560-BIB0038|humu23560-cit-0038","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.nmd.2016.09.009","article-title":"Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria","volume":"26","author":"Ravenscroft","year":"2016","journal-title":"Neuromuscular Disorders"},{"issue":"5","key":"10.1002\/humu.23560-BIB0039|humu23560-cit-0039","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":"Genetics in Medicine"},{"issue":"3","key":"10.1002\/humu.23560-BIB0040|humu23560-cit-0040","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/practneurol-2015-001095","article-title":"A practical approach to the genetic neuropathies","volume":"15","author":"Rossor","year":"2015","journal-title":"Practical Neurology"},{"issue":"1","key":"10.1002\/humu.23560-BIB0041|humu23560-cit-0041","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jnnp-2011-300952","article-title":"The distal hereditary motor neuropathies","volume":"83","author":"Rossor","year":"2012","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"issue":"4","key":"10.1002\/humu.23560-BIB0042|humu23560-cit-0042","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ana.24905","article-title":"Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome","volume":"81","author":"Salpietro","year":"2017","journal-title":"Annals in Neurology"},{"issue":"12","key":"10.1002\/humu.23560-BIB0043|humu23560-cit-0043","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain-terminating inhibitors","volume":"74","author":"Sanger F","year":"1977","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1002\/humu.23560-BIB0044|humu23560-cit-0044","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s40478-014-0100-3","article-title":"MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples","volume":"2","author":"Savarese","year":"2014","journal-title":"Acta Neuropathologica Communications"},{"issue":"5","key":"10.1002\/humu.23560-BIB0045|humu23560-cit-0045","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1007\/s00415-014-7289-8","article-title":"Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges","volume":"261","author":"Schabhuttl","year":"2014","journal-title":"Journal of Neurology"},{"issue":"Pt 1","key":"10.1002\/humu.23560-BIB0046|humu23560-cit-0046","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1093\/brain\/awv311","article-title":"Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease","volume":"139","author":"Sevilla","year":"2016","journal-title":"Brain"},{"issue":"4","key":"10.1002\/humu.23560-BIB0047|humu23560-cit-0047","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.ajhg.2015.02.012","article-title":"Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect","volume":"96","author":"Simons","year":"2015","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"10.1002\/humu.23560-BIB0048|humu23560-cit-0048","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Human Genetics"},{"issue":"9","key":"10.1002\/humu.23560-BIB0049|humu23560-cit-0049","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1038\/ejhg.2017.98","article-title":"Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features","volume":"25","author":"Storbeck","year":"2017","journal-title":"European Journal of Human Genetics"},{"issue":"Pt 5","key":"10.1002\/humu.23560-BIB0050|humu23560-cit-0050","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1093\/brain\/aww079","article-title":"SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study","volume":"139","author":"Synofzik","year":"2016","journal-title":"Brain"},{"issue":"21","key":"10.1002\/humu.23560-BIB0051|humu23560-cit-0051","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1212\/WNL.0000000000003360","article-title":"Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement","volume":"87","author":"Unger","year":"2016","journal-title":"Neurology"},{"issue":"2","key":"10.1002\/humu.23560-BIB0052|humu23560-cit-0052","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s00401-012-0982-8","article-title":"Next generation sequencing for molecular diagnosis of neuromuscular diseases","volume":"124","author":"Vasli","year":"2012","journal-title":"Acta Neuropathologica"},{"issue":"5","key":"10.1002\/humu.23560-BIB0053|humu23560-cit-0053","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1097\/WCO.0000000000000478","article-title":"The rapid evolution of molecular genetic diagnostics in neuromuscular diseases","volume":"30","author":"Volk","year":"2017","journal-title":"Current Opinion in Neurology"},{"issue":"5","key":"10.1002\/humu.23560-BIB0054|humu23560-cit-0054","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1097\/WCO.0b013e32833e1765","article-title":"The genetics of spinal muscular atrophies","volume":"23","author":"Wee","year":"2010","journal-title":"Current Opinion in Neurology"},{"issue":"3","key":"10.1002\/humu.23560-BIB0055|humu23560-cit-0055","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Human Mutation"},{"issue":"5","key":"10.1002\/humu.23560-BIB0056|humu23560-cit-0056","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"10.1002\/humu.23560-BIB0057|humu23560-cit-0057","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.ajhg.2017.02.006","article-title":"Loss-of-function mutations in LGI4, a secreted ligand involved in schwann cell myelination, are responsible for arthrogryposis multiplex congenita","volume":"100","author":"Xue","year":"2017","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1002\/humu.23560-BIB0058|humu23560-cit-0058","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nbt.2835","article-title":"Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls","volume":"32","author":"Zook","year":"2014","journal-title":"Nature Biotechnology"},{"issue":"9","key":"10.1002\/humu.23560-BIB0059|humu23560-cit-0059","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1093\/hmg\/ddt627","article-title":"Recessive and dominant mutations in COL12A1 cause a novel EDS\/myopathy overlap syndrome in humans and mice","volume":"23","author":"Zou","year":"2014","journal-title":"Human Molecular Genetics"},{"issue":"11","key":"10.1002\/humu.23560-BIB0060|humu23560-cit-0060","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1038\/sj.ejhg.5201257","article-title":"Extension of the mutation spectrum in Friedreich's ataxia: Detection of an exon deletion and novel missense mutations","volume":"12","author":"Zuhlke","year":"2004","journal-title":"European Journal of Human Genetics"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23560","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23560\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:56:46Z","timestamp":1672315006000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,25]]},"references-count":60,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2018,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23560","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7,25]]}}}