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dc.contributor.authorKaraca, Ender
dc.contributor.authorHarel, Tamar
dc.contributor.authorPehlivan, Davut
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorGambin, Tomasz
dc.contributor.authorAkdemir, Zeynep Coban
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorErdin, Serkan
dc.contributor.authorBayram, Yavuz
dc.contributor.authorCampbell, Ian M.
dc.contributor.authorHunter, Jill V.
dc.contributor.authorAtik, Mehmed M.
dc.contributor.authorVan Esch, Hilde
dc.contributor.authorYuan, Bo
dc.contributor.authorWiszniewski, Wojciech
dc.contributor.authorIsikay, Sedat
dc.contributor.authorYesil, Gozde
dc.contributor.authorYuregir, Ozge O.
dc.contributor.authorBozdogan, Sevcan Tug
dc.contributor.authorAslan, Huseyin
dc.contributor.authorAydin, Hatip
dc.contributor.authorTos, Tulay
dc.contributor.authorAksoy, Ayse
dc.contributor.authorDe Vivo, Darryl C.
dc.contributor.authorJain, Preti
dc.contributor.authorGeckinli, B. Bilge
dc.contributor.authorSezer, Ozlem
dc.contributor.authorGul, Davut
dc.contributor.authorDurmaz, Burak
dc.contributor.authorCogulu, Ozgur
dc.contributor.authorOzkinay, Ferda
dc.contributor.authorTopcu, Vehap
dc.contributor.authorCandan, Sukru
dc.contributor.authorCebi, Alper Han
dc.contributor.authorIkbal, Mevlit
dc.contributor.authorGulec, Elif Yilmaz
dc.contributor.authorGezdirici, Alper
dc.contributor.authorKoparir, Erkan
dc.contributor.authorEkici, Fatma
dc.contributor.authorCoskun, Salih
dc.contributor.authorCicek, Salih
dc.contributor.authorKaraer, Kadri
dc.contributor.authorKoparir, Asuman
dc.contributor.authorDuz, Mehmet Bugrahan
dc.contributor.authorKirat, Emre
dc.contributor.authorFenercioglu, Elif
dc.contributor.authorUlucan, Hakan
dc.contributor.authorSeven, Mehmet
dc.contributor.authorGuran, Tulay
dc.contributor.authorElcioglu, Nursel
dc.contributor.authorYildirim, Mahmut Selman
dc.contributor.authorAktas, Dilek
dc.contributor.authorAlikasifoglu, Mehmet
dc.contributor.authorTure, Mehmet
dc.contributor.authorYakut, Tahsin
dc.contributor.authorOverton, John D.
dc.contributor.authorYuksel, Adnan
dc.contributor.authorOzen, Mustafa
dc.contributor.authorMuzny, Donna M.
dc.contributor.authorAdams, David R.
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorChung, Wendy K.
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorLupski, James R.
dc.date.accessioned2019-12-10T11:32:53Z
dc.date.available2019-12-10T11:32:53Z
dc.date.issued2015
dc.identifier.issn0896-6273
dc.identifier.urihttps://doi.org/10.1016/j.neuron.2015.09.048
dc.identifier.urihttp://hdl.handle.net/11655/16068
dc.description.abstractDevelopment of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant analyses for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identification of 45 novel variants in 43 known disease genes, 41 candidate genes, and CNVs in 10 families, with an overall potential molecular cause identified in >85% of families studied. Among the candidate genes identified, we found PRUNE, VARS, and DHX37 in multiple families and homozygous loss-of-function variants in AGBL2, SLC18A2, SMARCA1, UBQLN1, and CPLX1. Neuroimaging and in silico analysis of functional and expression proximity between candidate and known disease genes allowed for further understanding of genetic networks underlying specific types of brain malformations.
dc.language.isoen
dc.publisherCell Press
dc.relation.isversionof10.1016/j.neuron.2015.09.048
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectNeurosciences & Neurology
dc.titleGenes That Affect Brain Structure And Function Identified By Rare Variant Analyses Of Mendelian Neurologic Disease
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalNeuron
dc.contributor.departmentTıbbi Genetik
dc.identifier.volume88
dc.identifier.issue3
dc.identifier.startpage499
dc.identifier.endpage513
dc.description.indexWoS
dc.description.indexScopus


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