{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:48:29Z","timestamp":1791496109112,"version":"4.3.4"},"reference-count":113,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T00:00:00Z","timestamp":1461715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["1R03DC010886"],"award-info":[{"award-number":["1R03DC010886"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002607","name":"American Speech-Language-Hearing Foundation","doi-asserted-by":"publisher","award":["New Century Scholars Research Grant"],"award-info":[{"award-number":["New Century Scholars Research Grant"]}],"id":[{"id":"10.13039\/100002607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["T32DC00033"],"award-info":[{"award-number":["T32DC00033"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD054562"],"award-info":[{"award-number":["R01HD054562"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH094293"],"award-info":[{"award-number":["R01MH094293"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U54HG006493"],"award-info":[{"award-number":["1U54HG006493"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32ES015459"],"award-info":[{"award-number":["T32ES015459"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000139","name":"U.S. Environmental Protection Agency","doi-asserted-by":"publisher","award":["RD-83451401"],"award-info":[{"award-number":["RD-83451401"]}],"id":[{"id":"10.13039\/100000139","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0153864","type":"journal-article","created":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T17:45:36Z","timestamp":1461779136000},"page":"e0153864","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":40,"title":["Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech"],"prefix":"10.1371","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9083-8522","authenticated-orcid":true,"given":"Beate","family":"Peter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen M.","family":"Wijsman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro Q.","family":"Nato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark M.","family":"Matsushita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy L.","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian B.","family":"Stanaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Oda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia B.","family":"Gabo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy H.","family":"Raskind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,4,27]]},"reference":[{"issue":"4","key":"ref1","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1044\/1092-4388(2005\/058)","article-title":"Toward diagnostic and phenotype markers for genetically transmitted speech delay","volume":"48","author":"LD Shriberg","year":"2005","journal-title":"Journal of speech, language, and hearing research: JSLHR"},{"issue":"2","key":"ref2","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jcomdis.2005.11.003","article-title":"Dimensions of early speech sound disorders: A factor analytic study","volume":"39","author":"BA Lewis","year":"2006","journal-title":"J Commun Disord"},{"issue":"6","key":"ref3","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1044\/2014_JSLHR-S-12-0193","article-title":"Data-driven subclassification of speech sound disorders in preschool children","volume":"57","author":"JC Vick","year":"2014","journal-title":"Journal of speech, language, and hearing research: JSLHR"},{"issue":"5","key":"ref4","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1111\/1460-6984.12095","article-title":"Intelligibility as a clinical outcome measure following intervention with children with phonologically based speech-sound disorders","volume":"49","author":"M Lousada","year":"2014","journal-title":"International journal of language & communication disorders \/ Royal College of Speech & Language Therapists"},{"issue":"1","key":"ref5","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1044\/0161-1461.2201.334","article-title":"Attitudes of Fourth and Sixth Graders Toward Peers With Mild Articulation Disorders","volume":"22","author":"BJC Hall","year":"1991","journal-title":"Language, Speech, and Hearing Services in Schools"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1044\/1092-4388(2010\/10-0068)","article-title":"Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia","volume":"54","author":"LD Shriberg","year":"2011","journal-title":"Journal of speech, language, and hearing research: JSLHR"},{"key":"ref7","article-title":"Treatment intensity and childhood apraxia of speech","author":"AK Namasivayam","year":"2015","journal-title":"International journal of language & communication disorders \/ Royal College of Speech & Language Therapists"},{"issue":"3","key":"ref8","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1044\/2014_AJSLP-13-0035","article-title":"A systematic review of treatment outcomes for children with childhood apraxia of speech","volume":"23","author":"E Murray","year":"2014","journal-title":"American journal of speech-language pathology \/ American Speech-Language-Hearing Association"},{"issue":"2","key":"ref9","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1044\/0161-1461(2004\/014)","article-title":"School-age follow-up of children with childhood apraxia of speech","volume":"35","author":"BA Lewis","year":"2004","journal-title":"Lang Speech Hear Serv Sch"},{"issue":"6","key":"ref10","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1097\/DBP.0b013e31811ff8ca","article-title":"Relationship between speech-sound disorders and early literacy skills in preschool-age children: impact of comorbid language impairment","volume":"28","author":"L Sices","year":"2007","journal-title":"J Dev Behav Pediatr"},{"issue":"Pt 2","key":"ref11","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1348\/000709904773839824","article-title":"Educational consequences of developmental speech disorder: Key Stage 1 National Curriculum assessment results in English and mathematics","volume":"74","author":"L Nathan","year":"2004","journal-title":"Br J Educ Psychol"},{"issue":"2","key":"ref12","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1044\/jslhr.4002.273","article-title":"Developmental apraxia of speech: I. Descriptive and theoretical perspectives","volume":"40","author":"LD Shriberg","year":"1997","journal-title":"Journal of speech, language, and hearing research: JSLHR"},{"issue":"2","key":"ref13","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng0298-168","article-title":"Localisation of a gene implicated in a severe speech and language disorder","volume":"18","author":"SE Fisher","year":"1998","journal-title":"Nature genetics"},{"issue":"6855","key":"ref14","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/35097076","article-title":"A forkhead-domain gene is mutated in a severe speech and language disorder","volume":"413","author":"CS Lai","year":"2001","journal-title":"Nature"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1146\/annurev.neuro.26.041002.131144","article-title":"Deciphering the genetic basis of speech and language disorders","volume":"26","author":"SE Fisher","year":"2003","journal-title":"Annual review of neuroscience"},{"issue":"3","key":"ref16","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/hbm.10093","article-title":"Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia","volume":"18","author":"E Belton","year":"2003","journal-title":"Hum Brain Mapp"},{"issue":"4","key":"ref17","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ejpn.2011.04.006","article-title":"Endophenotypes of FOXP2: dysfunction within the human articulatory network","volume":"15","author":"F Liegeois","year":"2011","journal-title":"Eur J Paediatr Neurol"},{"issue":"22","key":"ref18","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1056\/NEJMoa0802828","article-title":"A functional genetic link between distinct developmental language disorders","volume":"359","author":"SC Vernes","year":"2008","journal-title":"The New England journal of medicine"},{"issue":"1","key":"ref19","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s11689-010-9065-0","article-title":"Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample","volume":"3","author":"B Peter","year":"2011","journal-title":"Journal of neurodevelopmental disorders"},{"issue":"7 Suppl 2","key":"ref20","first-page":"S21","article-title":"A molecular approach to galactosemia","volume":"154","author":"LJ Elsas 2nd","year":"1995","journal-title":"Eur J Pediatr"},{"key":"ref21","article-title":"Prevalence and Phenotype of Childhood Apraxia of Speech In Youth with Galactosemia","author":"LD Shriberg","year":"2010","journal-title":"J Speech Lang Hear Res"},{"issue":"8","key":"ref22","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1111\/j.1601-183X.2010.00648.x","article-title":"Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves","volume":"9","author":"DK Pal","year":"2010","journal-title":"Genes Brain Behav"},{"issue":"3","key":"ref23","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1044\/lle18.3.108","article-title":"Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention","volume":"18","author":"SL Velleman","year":"2011","journal-title":"Perspect Lang Learn Educ"},{"key":"ref24","article-title":"7q11.23 Duplication syndrome: Physical characteristics and natural history","author":"CA Morris","year":"2015","journal-title":"American journal of medical genetics Part A"},{"issue":"1","key":"ref25","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/ejhg.2012.116","article-title":"12p13.33 microdeletion including ELKS\/ERC1, a new locus associated with childhood apraxia of speech","volume":"21","author":"J Thevenon","year":"2013","journal-title":"European journal of human genetics: EJHG"},{"issue":"8","key":"ref26","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1002\/ajmg.a.36599","article-title":"De novo microdeletion of BCL11A is associated with severe speech sound disorder","volume":"164A","author":"B Peter","year":"2014","journal-title":"American journal of medical genetics Part A"},{"issue":"4","key":"ref27","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jmg.2006.045013","article-title":"Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1","volume":"44","author":"E Rajcan-Separovic","year":"2007","journal-title":"J Med Genet"},{"issue":"2","key":"ref28","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.2007.054049","article-title":"A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis","volume":"45","author":"N de Leeuw","year":"2008","journal-title":"J Med Genet"},{"issue":"3","key":"ref29","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1136\/jmg.2007.056176","article-title":"The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15","volume":"45","author":"E Chabchoub","year":"2008","journal-title":"J Med Genet"},{"issue":"9","key":"ref30","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1136\/jmg.2008.059220","article-title":"A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion","volume":"46","author":"JS Liang","year":"2009","journal-title":"J Med Genet"},{"issue":"10","key":"ref31","doi-asserted-by":"crossref","first-page":"2604","DOI":"10.1002\/ajmg.a.33612","article-title":"Further characterization of microdeletion syndrome involving 2p15-p16.1","volume":"152A","author":"TM Felix","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"10","key":"ref32","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1002\/ajmg.a.33875","article-title":"Deletion 2p15-16.1 syndrome: case report and review","volume":"155A","author":"P Prontera","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"4","key":"ref33","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ejmg.2012.01.014","article-title":"Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation","volume":"55","author":"M Piccione","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"4","key":"ref34","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1002\/ajmg.a.35783","article-title":"A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome","volume":"161","author":"M Hancarova","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"4","key":"ref35","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ejhg.2012.165","article-title":"Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome","volume":"21","author":"G Raca","year":"2013","journal-title":"European journal of human genetics: EJHG"},{"issue":"4","key":"ref36","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ejhg.2012.166","article-title":"Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder","volume":"21","author":"DF Newbury","year":"2013","journal-title":"European journal of human genetics: EJHG"},{"issue":"11","key":"ref37","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1038\/gim.2012.72","article-title":"Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization","volume":"14","author":"JJ Laffin","year":"2012","journal-title":"Genetics in medicine: official journal of the American College of Medical Genetics"},{"issue":"1","key":"ref38","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1866-1955-5-29","article-title":"Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech","volume":"5","author":"EA Worthey","year":"2013","journal-title":"Journal of neurodevelopmental disorders"},{"issue":"2","key":"ref39","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1097\/TLD.0b013e318217b855","article-title":"A multigenerational family study of oral and hand motor sequencing ability provides evidence for a familial speech sound disorder subtype","volume":"31","author":"B Peter","year":"2011","journal-title":"Topics in language disorders"},{"issue":"5","key":"ref40","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1097\/YPG.0b013e328353ae92","article-title":"Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family","volume":"22","author":"B Peter","year":"2012","journal-title":"Psychiatr Genet"},{"issue":"1","key":"ref41","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/ajmg.b.31135","article-title":"Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21","volume":"156B","author":"IR Konig","year":"2011","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"3","key":"ref42","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3109\/02699206.2012.736011","article-title":"Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech","volume":"27","author":"B Peter","year":"2013","journal-title":"Clinical linguistics & phonetics"},{"issue":"3","key":"ref43","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1044\/jshd.5203.271","article-title":"Clinical assessment of oropharyngeal motor development in young children","volume":"52","author":"J Robbins","year":"1987","journal-title":"The Journal of speech and hearing disorders"},{"issue":"4","key":"ref44","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1044\/jshr.1504.763","article-title":"Time-by-count measurement of diadochokinetic syllable rate","volume":"15","author":"SG Fletcher","year":"1972","journal-title":"Journal of speech and hearing research"},{"key":"ref45","first-page":"1","article-title":"CTOPP, Comprehensive Test of Phonological Processing","author":"RK Wagner","year":"1999"},{"issue":"5","key":"ref46","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1044\/jslhr.4105.1136","article-title":"Nonword repetition and child language impairment","volume":"41","author":"C Dollaghan","year":"1998","journal-title":"J Speech Lang Hear Res"},{"issue":"5","key":"ref47","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1044\/1092-4388(2009\/08-0047)","article-title":"A nonword repetition task for speakers with misarticulations: the Syllable Repetition Task (SRT)","volume":"52","author":"LD Shriberg","year":"2009","journal-title":"J Speech Lang Hear Res"},{"key":"ref48","article-title":"Test of rapid automatic naming","author":"M Wolf","year":"2004"},{"key":"ref49","article-title":"Woodcock Reading Mastery Tests\u2014Revised","author":"RW Woodcock","year":"1998"},{"key":"ref50","article-title":"Test of word reading efficiency","author":"JK Torgesen","year":"1999"},{"key":"ref51","article-title":"Wechsler Individual Achievement Test\u2014Second Edition","author":"D Wechsler","year":"2002"},{"issue":"3","key":"ref52","doi-asserted-by":"crossref","first-page":"192","DOI":"10.3109\/02699206.2012.744097","article-title":"Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study","volume":"27","author":"L Button","year":"2013","journal-title":"Clinical linguistics & phonetics"},{"key":"ref53","article-title":"Structured Photographic Articulation Test II","author":"J Dawson","year":"2001"},{"key":"ref54","article-title":"Clinical Evaluation of Language Fundamentals\u2014Preschool","author":"E Wiig","year":"1992"},{"key":"ref55","article-title":"Woodcock-Johnson Tests of Achievement","author":"R Woodcock","year":"2001"},{"issue":"5","key":"ref56","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1097\/YPG.0b013e328353ae92","article-title":"Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family","volume":"22","author":"B Peter","year":"2012","journal-title":"Psychiatric genetics"},{"issue":"9","key":"ref57","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmg.24.9.539","article-title":"Exclusion mapping","volume":"24","author":"JH Edwards","year":"1987","journal-title":"J Med Genet"},{"issue":"10","key":"ref58","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1007\/s00439-015-1585-y","article-title":"Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes","volume":"134","author":"NH Chapman","year":"2015","journal-title":"Human genetics"},{"issue":"11","key":"ref59","doi-asserted-by":"crossref","first-page":"4175","DOI":"10.1073\/pnas.86.11.4175","article-title":"Computer-simulation methods in human linkage analysis","volume":"86","author":"J Ott","year":"1989","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"3","key":"ref60","first-page":"A204","article-title":"SLINK: a general simulation program for linkage analysis","volume":"47","author":"DE Weeks","year":"1990","journal-title":"Am J Hum Genet"},{"issue":"3\u20134","key":"ref61","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000346560","article-title":"Identification of rare variants from exome sequence in a large pedigree with autism","volume":"74","author":"EE Marchani","year":"2012","journal-title":"Human heredity"},{"issue":"3","key":"ref62","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1086\/301997","article-title":"The power to detect linkage in complex disease by means of simple LOD-score analyses","volume":"63","author":"DA Greenberg","year":"1998","journal-title":"American journal of human genetics"},{"issue":"3","key":"ref63","first-page":"277","article-title":"Sequential tests for the detection of linkage","volume":"7","author":"NE Morton","year":"1955","journal-title":"Am J Hum Genet"},{"key":"ref64","first-page":"497","article-title":"A statistical approach to genetic epidemiology","volume":"xxiv","author":"A Ziegler","year":"2010"},{"issue":"3","key":"ref65","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1159\/000289596","article-title":"An extensive comparison of quantitative trait Loci mapping methods","volume":"69","author":"A Kleensang","year":"2010","journal-title":"Hum Hered"},{"issue":"3","key":"ref66","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a toolset for whole-genome association and population-based linkage analysis","volume":"81","author":"S Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"16","key":"ref67","doi-asserted-by":"crossref","first-page":"3445","DOI":"10.1093\/bioinformatics\/bti529","article-title":"PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data","volume":"21","author":"JE Wigginton","year":"2005","journal-title":"Bioinformatics"},{"issue":"23","key":"ref68","doi-asserted-by":"crossref","first-page":"3790","DOI":"10.1093\/bioinformatics\/btv444","article-title":"PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers","volume":"31","author":"AQ Nato Jr.","year":"2015","journal-title":"Bioinformatics"},{"issue":"12","key":"ref69","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1101\/gr.7156307","article-title":"A second-generation combined linkage physical map of the human genome","volume":"17","author":"TC Matise","year":"2007","journal-title":"Genome research"},{"issue":"3","key":"ref70","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1159\/000109731","article-title":"Multilocus lod scores in large pedigrees: combination of exact and approximate calculations","volume":"65","author":"L Tong","year":"2008","journal-title":"Human heredity"},{"issue":"2","key":"ref71","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1159\/000313555","article-title":"The structure of genetic linkage data: from LIPED to 1M SNPs","volume":"71","author":"E Thompson","year":"2011","journal-title":"Human heredity"},{"issue":"6","key":"ref72","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1002\/gepi.1370100658","article-title":"Monte Carlo analysis on a large pedigree","volume":"10","author":"EA Thompson","year":"1993","journal-title":"Genetic epidemiology"},{"issue":"1\u20134","key":"ref73","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1159\/000132186","article-title":"Report of the Committee on Methods of Linkage Analysis and Reporting","volume":"40","author":"PM Conneally","year":"1985","journal-title":"Cytogenet Cell Genet"},{"issue":"8","key":"ref74","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":"N Krumm","year":"2012","journal-title":"Genome Res"},{"issue":"8","key":"ref75","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/nmeth0810-576","article-title":"mrsFAST: a cache-oblivious algorithm for short-read mapping","volume":"7","author":"F Hach","year":"2010","journal-title":"Nat Meth"},{"issue":"11","key":"ref76","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data","volume":"17","author":"K Wang","year":"2007","journal-title":"Genome research"},{"issue":"7","key":"ref77","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/nmeth.1466","article-title":"cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs","volume":"7","author":"LJ Coin","year":"2010","journal-title":"Nature methods"},{"issue":"5","key":"ref78","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/gepi.21643","article-title":"Inheritance model introduces differential bias in CNV calls between parents and offspring","volume":"36","author":"S Kim","year":"2012","journal-title":"Genetic epidemiology"},{"issue":"2","key":"ref79","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2011.01.010","article-title":"A fast, powerful method for detecting identity by descent","volume":"88","author":"BL Browning","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref80","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"GR Abecasis","year":"2002","journal-title":"Nature genetics"},{"issue":"16","key":"ref81","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","article-title":"Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor","volume":"26","author":"W McLaren","year":"2010","journal-title":"Bioinformatics"},{"issue":"Database issue","key":"ref82","doi-asserted-by":"crossref","first-page":"D749","DOI":"10.1093\/nar\/gkt1196","article-title":"Ensembl 2014","volume":"42","author":"P Flicek","year":"2014","journal-title":"Nucleic acids research"},{"issue":"7","key":"ref83","doi-asserted-by":"crossref","first-page":"e1003153","DOI":"10.1371\/journal.pcbi.1003153","article-title":"GEMINI: integrative exploration of genetic variation and genome annotations","volume":"9","author":"U Paila","year":"2013","journal-title":"PLoS computational biology"},{"issue":"9","key":"ref84","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome research"},{"issue":"17","key":"ref85","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"V Ramensky","year":"2002","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"ref86","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":"M Kircher","year":"2014","journal-title":"Nature genetics"},{"issue":"16","key":"ref87","doi-asserted-by":"crossref","first-page":"3259","DOI":"10.1093\/hmg\/ddt180","article-title":"Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)","volume":"22","author":"O Korvatska","year":"2013","journal-title":"Human molecular genetics"},{"key":"ref88","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.brainres.2012.06.020","article-title":"Cadherins and neuropsychiatric disorders","volume":"1470","author":"C Redies","year":"2012","journal-title":"Brain research"},{"issue":"5","key":"ref89","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1083\/jcb.129.5.1391","article-title":"The interaction of the retina cell surface N-acetylgalactosaminylphosphotransferase with an endogenous proteoglycan ligand results in inhibition of cadherin-mediated adhesion","volume":"129","author":"J Balsamo","year":"1995","journal-title":"The Journal of cell biology"},{"issue":"8","key":"ref90","doi-asserted-by":"crossref","first-page":"5236","DOI":"10.1074\/jbc.272.8.5236","article-title":"Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning","volume":"272","author":"T Shibata","year":"1997","journal-title":"The Journal of biological chemistry"},{"issue":"7416","key":"ref91","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/nature11405","article-title":"An anatomically comprehensive atlas of the adult human brain transcriptome","volume":"489","author":"MJ Hawrylycz","year":"2012","journal-title":"Nature"},{"issue":"4","key":"ref92","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"HV Firth","year":"2009","journal-title":"American journal of human genetics"},{"issue":"9","key":"ref93","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1091\/mbc.E11-04-0358","article-title":"Myosin-X functions in polarized epithelial cells","volume":"23","author":"KC Liu","year":"2012","journal-title":"Molecular biology of the cell"},{"issue":"5","key":"ref94","doi-asserted-by":"crossref","first-page":"e36988","DOI":"10.1371\/journal.pone.0036988","article-title":"PtdIns (3,4,5) P3 recruitment of Myo10 is essential for axon development","volume":"7","author":"H Yu","year":"2012","journal-title":"PloS one"},{"issue":"9","key":"ref95","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.cub.2006.03.049","article-title":"Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression","volume":"16","author":"E Watrin","year":"2006","journal-title":"Current biology: CB"},{"issue":"6","key":"ref96","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B","volume":"36","author":"ID Krantz","year":"2004","journal-title":"Nature genetics"},{"issue":"11","key":"ref97","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1176\/appi.ajp.2010.09121789","article-title":"Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population","volume":"167","author":"B St Pourcain","year":"2010","journal-title":"Am J Psychiatry"},{"issue":"7246","key":"ref98","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/nature07999","article-title":"Common genetic variants on 5p14.1 associate with autism spectrum disorders","volume":"459","author":"K Wang","year":"2009","journal-title":"Nature"},{"issue":"8","key":"ref99","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/DBP.0000000000000189","article-title":"How Valid Is the Checklist for Autism Spectrum Disorder When a Child Has Apraxia of Speech?","volume":"36","author":"C Tierney","year":"2015","journal-title":"J Dev Behav Pediatr"},{"issue":"8","key":"ref100","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1101\/gad.214023.113","article-title":"Emerging roles of the corepressors NCoR1 and SMRT in homeostasis","volume":"27","author":"A Mottis","year":"2013","journal-title":"Genes & development"},{"issue":"2","key":"ref101","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","article-title":"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome","volume":"2","author":"ML Nickerson","year":"2002","journal-title":"Cancer cell"},{"issue":"11","key":"ref102","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1093\/hmg\/ddt070","article-title":"Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression","volume":"22","author":"V Frank","year":"2013","journal-title":"Human molecular genetics"},{"issue":"6","key":"ref103","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/dnares\/5.6.355","article-title":"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro","volume":"5","author":"T Nagase","year":"1998","journal-title":"DNA research: an international journal for rapid publication of reports on genes and genomes"},{"issue":"9","key":"ref104","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/0165-6147(91)90595-J","article-title":"Molecular diversity of voltage-dependent Ca2+ channels","volume":"12","author":"RW Tsien","year":"1991","journal-title":"Trends in pharmacological sciences"},{"issue":"9","key":"ref105","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/ng.209","article-title":"Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder","volume":"40","author":"MA Ferreira","year":"2008","journal-title":"Nature genetics"},{"issue":"3","key":"ref106","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"MC Moreira","year":"2004","journal-title":"Nature genetics"},{"issue":"1","key":"ref107","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.bandl.2012.10.007","article-title":"Early gray-matter and white-matter concentration in infancy predict later language skills: a whole brain voxel-based morphometry study","volume":"124","author":"D Deniz Can","year":"2013","journal-title":"Brain Lang"},{"key":"ref108","article-title":"Consensus Paper: The Cerebellum&apos;s Role in Movement and Cognition","author":"LF Koziol","year":"2013","journal-title":"Cerebellum"},{"key":"ref109","article-title":"Grey Matter Volume in the Cerebellum is Related to the Processing of Grammatical Rules in a Second Language: A Structural Voxel-based Morphometry Study","author":"C Pliatsikas","year":"2013","journal-title":"Cerebellum"},{"key":"ref110","article-title":"A copy number variation map of the human genome","author":"M Zarrei","year":"2015","journal-title":"Nature reviews Genetics"},{"issue":"8","key":"ref111","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1001\/jamaneurol.2015.0979","article-title":"R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family Clinical, Genetic, and Neuropathological Study","volume":"72","author":"O Korvatska","year":"2015","journal-title":"Jama Neurol"},{"issue":"6","key":"ref112","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ng.835","article-title":"Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations","volume":"43","author":"BJ O'Roak","year":"2011","journal-title":"Nature genetics"},{"issue":"2","key":"ref113","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ajhg.2012.12.016","article-title":"Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder","volume":"92","author":"S Girirajan","year":"2013","journal-title":"American journal of human genetics"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0153864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T20:11:36Z","timestamp":1692303096000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0153864"}},"subtitle":[],"editor":[{"given":"Tao","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,4,27]]},"references-count":113,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,4,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0153864","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,27]]}}}