{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mitani T"],"funding":["NHGRI NIH HHS","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["1981-2005"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8546040"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["108(10)"],"pubmed_abstract":["Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic \"disease-associated genes\" molecular etiology and biology of NDDs; however, the majority of NDDs remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkis"],"journal":["American journal of human genetics"],"pubmed_title":["High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population."],"pmcid":["PMC8546040"],"funding_grant_id":["R01 GM132589","UM1 HG006542","U54 HG003273","R35 NS105078","U01 HG011758","K08 HG008986","T32 GM007526"],"pubmed_authors":["Sezer O","Erdem HB","Yalcintepe S","Gibbs RA","Elcioglu N","Demiral E","Marafi D","Jolly A","Bozdogan S","Topcu V","Dawood M","Lupski JR","Punetha J","Yesilbas O","Grochowski CM","Bayram Y","Kilic B","Gulec EY","Ozalp O","Ayaz A","Pehlivan D","Fatih JM","Hu J","Isikay S","Yesil G","Aydin H","Du H","Akdemir ZC","Aslan H","Tos T","Jhangiani SN","Posey JE","Herman I","Carvalho CMB","Akay G","Gezdirici A","Candan S","Gungor S","Gul D","Doddapaneni H","Elmas M","Muzny DM","Baylor-Hopkins Center for Mendelian Genomics","Ceylan AC","Cicek S","Calame DG","Karaca E","Geckinli B","Duan R","Mitani T"],"additional_accession":[]},"is_claimable":false,"name":"High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.","description":"Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant sociocultural and economic challenges to society. With recent advances in family-based genomics, rare-variant analyses, and further exploration of the Clan Genomics hypothesis, there has been a logarithmic explosion in neurogenetic \"disease-associated genes\" molecular etiology and biology of NDDs; however, the majority of NDDs remain molecularly undiagnosed. We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkis","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Oct","modification":"2026-05-31T06:04:02.21Z","creation":"2025-04-20T00:20:51.166Z"},"accession":"S-EPMC8546040","cross_references":{"pubmed":["34582790"],"doi":["10.1016/j.ajhg.2021.08.009"]}}