{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:05:15Z","timestamp":1792785915079,"version":"4.5.0"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54 NS092090"],"award-info":[{"award-number":["U54 NS092090"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS105845"],"award-info":[{"award-number":["R01NS105845"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Intramural Research Program of the NIMH","award":["1ZICMH002961"],"award-info":[{"award-number":["1ZICMH002961"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype\u2013phenotype associations that may contribute to the wide spectrum of features. Here, we report results of genotype\u2013phenotype associations in a cohort of 170 individuals with PMS. Genotypes were defined as Class I deletions (including SHANK3 only or SHANK3 with ARSA and\/or ACR and RABL2B), Class II deletions (all other deletions) or sequence variants. Phenotype data were derived prospectively from direct evaluation, caregiver interview and questionnaires, and medical history. Analyses revealed individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability compared to those with Class II deletions but had more skill regressions. Individuals with Class II deletions were more likely to have a variety of medical features, including renal abnormalities, spine abnormalities, and ataxic gait. Those with Class I deletions or sequence variants were more likely to have psychiatric diagnoses including bipolar disorder, depression, and schizophrenia. Autism spectrum disorder diagnoses did not differ between groups. This study represents the largest and most rigorous genotype\u2013phenotype analysis in PMS to date and provides important information for considering clinical functioning, trajectories and comorbidities as a function of specific genetic alteration.<\/jats:p>","DOI":"10.1093\/hmg\/ddab280","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T15:11:45Z","timestamp":1632150705000},"page":"625-637","source":"Crossref","is-referenced-by-count":72,"title":["Strong evidence for genotype\u2013phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2207-0440","authenticated-orcid":false,"given":"Tess","family":"Levy","sequence":"first","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer H","family":"Foss-Feig","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris 75005, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige M","family":"Siper","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Pilar","family":"Trelles-Thorne","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Halpern","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yitzchak","family":"Frank","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reymundo","family":"Lozano","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Layton","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bari","family":"Britvan","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Stanford University, Stanford, CA, 94304, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D","family":"Buxbaum","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig M","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA"},{"name":"Department of Psychiatry and Neuroscience Graduate Program, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7044-2953","authenticated-orcid":false,"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Latha","family":"Soorya","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Rush University Medical Center, Chicago, Illinois 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Thurm","sequence":"additional","affiliation":[{"name":"Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20814, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Kolevzon","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"},{"name":"Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Developmental Synaptopathies Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,9,24]]},"reference":[{"key":"2022022310591905600_ref1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1086\/321293","article-title":"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome","volume":"69","author":"Bonaglia","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2022022310591905600_ref2","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/jmg.40.8.575","article-title":"Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3\/PROSAP2 in the major neurological symptoms","volume":"40","author":"Wilson","year":"2003","journal-title":"J. Med. Genet."},{"key":"2022022310591905600_ref3","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.2005.038604","article-title":"Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome","volume":"43","author":"Bonaglia","year":"2006","journal-title":"J. Med. Genet."},{"key":"2022022310591905600_ref4","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","article-title":"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders","volume":"39","author":"Durand","year":"2007","journal-title":"Nat. Genet."},{"key":"2022022310591905600_ref5","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1866-1955-6-39","article-title":"Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring","volume":"6","author":"Kolevzon","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"2022022310591905600_ref6","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/2040-2392-4-17","article-title":"SHANK3 haploinsufficiency: a \"common\" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders","volume":"4","author":"Betancur","year":"2013","journal-title":"Mol. Autism."},{"key":"2022022310591905600_ref7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004580","article-title":"Meta-analysis of SHANK mutations in autism Spectrum disorders: a gradient of severity in cognitive impairments","volume":"10","author":"Leblond","year":"2014","journal-title":"PLoS Genet."},{"key":"2022022310591905600_ref8","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"key":"2022022310591905600_ref9","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/BF02172145","article-title":"Autism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders","volume":"24","author":"Lord","year":"1994","journal-title":"J. Autism Dev. Disord."},{"key":"2022022310591905600_ref10","article-title":"(ADOS-2) manual (part I): modules 1\u20134","author":"Lord","year":"2012","journal-title":"Autism Diagnostic Observation Schedule"},{"key":"2022022310591905600_ref11","doi-asserted-by":"crossref","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and Statistical Manual of Mental Disorders : DSM-5","author":"American Psychiatric Association","year":"2013"},{"key":"2022022310591905600_ref12","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1002\/aur.2299","article-title":"Psychometric study of the social responsiveness scale in Phelan-McDermid syndrome","volume":"13","author":"Gergoudis","year":"2020","journal-title":"Autism Res."},{"key":"2022022310591905600_ref13","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1159\/000339119","article-title":"Neuropsychopathology in 7 patients with the 22q13 deletion syndrome: presence of bipolar disorder and progressive loss of skills","volume":"3","author":"Denayer","year":"2012","journal-title":"Mol. Syndromol."},{"key":"2022022310591905600_ref14","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/ajmg.a.35597","article-title":"Phelan-McDermid syndrome: clinical report of a 70-year-old woman","volume":"161a","author":"Verhoeven","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref15","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.ejmg.2012.07.009","article-title":"Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion","volume":"55","author":"Vucurovic","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"2022022310591905600_ref16","doi-asserted-by":"crossref","first-page":"103751","DOI":"10.1016\/j.ejmg.2019.103751","article-title":"A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome","volume":"63","author":"Verhoeven","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"2022022310591905600_ref17","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s11689-020-9309-6","article-title":"Psychiatric illness and regression in individuals with Phelan-McDermid syndrome","volume":"12","author":"Kohlenberg","year":"2020","journal-title":"J. Neurodev. Disord."},{"key":"2022022310591905600_ref18","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13229-019-0291-3","article-title":"Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature","volume":"10","author":"Kolevzon","year":"2019","journal-title":"Mol. Autism."},{"key":"2022022310591905600_ref19","first-page":"1301","article-title":"Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development","volume":"16","author":"Wilson","year":"2008","journal-title":"Eur. J. Med. Genet."},{"key":"2022022310591905600_ref20","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1002\/ajmg.a.36358","article-title":"A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region","volume":"164a","author":"Simenson","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref21","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1007\/s00439-014-1423-7","article-title":"Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome","volume":"133","author":"Sarasua","year":"2014","journal-title":"Hum. Genet."},{"key":"2022022310591905600_ref22","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1002\/ajmg.a.36513","article-title":"Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome","volume":"164a","author":"Disciglio","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref23","first-page":"146","article-title":"Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review","volume":"13","author":"Li","year":"2020","journal-title":"BMC Med. Genet."},{"key":"2022022310591905600_ref24","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ajmg.a.38559","article-title":"Clinical and molecular characterization of an emerging chromosome 22q13. 31 microdeletion syndrome","volume":"176","author":"Palumbo","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref25","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1002\/ajmg.a.40492","article-title":"A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C","volume":"176","author":"Upadia","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref26","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1136\/jmg.40.9.690","article-title":"Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations","volume":"40","author":"Luciani","year":"2003","journal-title":"J. Med. Genet."},{"key":"2022022310591905600_ref27","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmedgenet-2011-100225","article-title":"Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)","volume":"48","author":"Sarasua","year":"2011","journal-title":"J.Med. Genet."},{"key":"2022022310591905600_ref28","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/gim.2013.144","article-title":"22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan\u2013McDermid syndrome","volume":"16","author":"Sarasua","year":"2014","journal-title":"Genet. Med."},{"key":"2022022310591905600_ref29","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s11689-019-9273-1","article-title":"A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case","volume":"11","author":"Samogy-Costa","year":"2019","journal-title":"J. Neurodev. Disord."},{"key":"2022022310591905600_ref30","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/s13023-015-0323-9","article-title":"Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations","volume":"10","author":"Oberman","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"2022022310591905600_ref31","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/2040-2392-4-18","article-title":"Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency","volume":"4","author":"Soorya","year":"2013","journal-title":"Mol. Autism."},{"key":"2022022310591905600_ref32","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/ajmg.a.30780","article-title":"Molecular and phenotypic characterization of ring chromosome 22","volume":"137A","author":"Jeffries","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref33","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ajmg.a.33253","article-title":"22q13.3 deletion syndrome: clinical and molecular analysis using array CGH","volume":"152a","author":"Dhar","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref34","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41525-017-0035-2","article-title":"A framework to identify contributing genes in patients with Phelan-McDermid syndrome","volume":"2","author":"Tabet","year":"2017","journal-title":"NPJ Genom. Med."},{"key":"2022022310591905600_ref35","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1159\/000503840","article-title":"Deep phenotyping of development, communication and behaviour in Phelan-McDermid syndrome","volume":"10","author":"Droogmans","year":"2020","journal-title":"Mol. Syndromol."},{"key":"2022022310591905600_ref36","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1186\/s13023-020-01592-5","article-title":"A 29 mainland Chinese cohort of patients with Phelan\u2013McDermid syndrome: genotype\u2013phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes","volume":"15","author":"Xu","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"2022022310591905600_ref37","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13229-018-0205-9","article-title":"Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations","volume":"9","author":"De Rubeis","year":"2018","journal-title":"Mol. Autism."},{"key":"2022022310591905600_ref38","doi-asserted-by":"crossref","first-page":"2668","DOI":"10.1002\/ajmg.a.40666","article-title":"Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders","volume":"176","author":"Li","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref39","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1002\/ajmg.a.62222","article-title":"Genotype-phenotype correlation in Phelan-McDermid syndrome: a comprehensive review of chromosome 22q13 deleted genes","volume":"185","author":"Ricciardello","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref40","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1038\/s41436-019-0454-9","article-title":"Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature","volume":"21","author":"Torti","year":"2019","journal-title":"Genet. Med."},{"key":"2022022310591905600_ref41","doi-asserted-by":"crossref","first-page":"526","DOI":"10.3389\/fpsyt.2019.00526","article-title":"State of the field: differentiating intellectual disability from autism spectrum disorder","volume":"10","author":"Thurm","year":"2019","journal-title":"Front. Psych."},{"key":"2022022310591905600_ref42","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1002\/ajmg.a.61269","article-title":"Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants","volume":"179","author":"Maltese","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"2022022310591905600_ref43","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1111\/cge.13622","article-title":"Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: a second family","volume":"96","author":"Erickson","year":"2019","journal-title":"Clin. Genet."},{"key":"2022022310591905600_ref44","volume-title":"The Stanford-Binet Intelligence Scales","author":"Roid","year":"2012"},{"key":"2022022310591905600_ref45","volume-title":"Differential Ability Scales\u2013Second Edition (DAS-II)","author":"Elliot","year":"2007"},{"key":"2022022310591905600_ref46","volume-title":"Mullen Scales of Early Learning","author":"Mullen","year":"1995"},{"key":"2022022310591905600_ref47","volume-title":"Vineland Adaptive Behavior Scales Vineland-II: Survey Forms Manual","author":"Sparrow","year":"2005"},{"key":"2022022310591905600_ref48","first-page":"864","article-title":"Expressive vocabulary test second edition (EVT\u2122 2)","volume":"42","author":"Williams","year":"1997","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"2022022310591905600_ref49","volume-title":"Peabody Picture Vocabulary Test","author":"Dunn","year":"2007","edition":"4th"},{"key":"2022022310591905600_ref50","volume-title":"MacArthur-Bates Communicative Development Inventories","author":"Fenson","year":"2007"},{"key":"2022022310591905600_ref51","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1017\/S0305000907008094","article-title":"Characterizing communicative development in children referred for autism Spectrum disorders using the MacArthur-bates communicative development inventory (CDI)","volume":"34","author":"Luyster","year":"2007","journal-title":"J. Child Lang."},{"key":"2022022310591905600_ref52","doi-asserted-by":"crossref","first-page":"190","DOI":"10.5014\/ajot.61.2.190","article-title":"Sensory processing in children with and without autism: a comparative study using the short sensory profile","volume":"61","author":"Tomchek","year":"2007","journal-title":"Am. J. Occup. Ther."},{"key":"2022022310591905600_ref53","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/978-1-4419-1698-3_1632","volume-title":"Encyclopedia of Autism Spectrum Disorders","author":"Aman","year":"2013"},{"key":"2022022310591905600_ref54","volume-title":"Aberrant Behavior Checklist: Manual","author":"Aman","year":"1986"},{"key":"2022022310591905600_ref55","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1007\/s10803-006-0213-z","article-title":"The repetitive behavior scale-revised: independent validation in individuals with autism spectrum disorders","volume":"37","author":"Lam","year":"2007","journal-title":"J. Autism Dev. Disord."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddab280\/41117418\/ddab280.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/4\/625\/42579497\/ddab280.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/4\/625\/42579497\/ddab280.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T21:35:01Z","timestamp":1699479301000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/31\/4\/625\/6374812"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,24]]},"references-count":55,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,9,24]]},"published-print":{"date-parts":[[2022,2,21]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddab280","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,2,15]]},"published":{"date-parts":[[2021,9,24]]}}}