ArticleNeuron2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
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In one paragraph
Article in Neuron, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 201 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
201citing papers in PubMed, 2 pooled it
17.3field-weighted citation impact, top 1% of its field
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
201 citing papers in PubMed, 2 syntheses or guidelines pooled it, 333 citations in OpenAlex.
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- Trial
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141 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
64 authors at 20 institutions in 2 countries.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Tamar HarelDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zeynep Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Serkan ErdinCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Yavuz BayramDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ian M CampbellDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill V HunterDepartment of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Mehmed M AtikDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hilde Van EschCenter for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
Bo YuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wojciech WiszniewskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Sedat IsikayDepartment of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
Gozde YesilDepartment of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Ozge O YuregirDepartment of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
Sevcan Tug BozdoganDepartment of Medical Genetics, Mersin University, Mersin 33343, Turkey.
Huseyin AslanDepartment of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
Hatip AydinDepartment of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Tulay TosDepartment of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Ayse AksoyDepartment of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Darryl C De VivoDepartment of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Preti JainDepartment of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
B Bilge GeckinliDepartment of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
Ozlem SezerDepartment of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Davut GulDepartment of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Burak DurmazDepartment of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ozgur CoguluDepartment of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ferda OzkinayDepartment of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Vehap TopcuDepartment of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
Sukru CandanMedical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Alper Han CebiDepartment of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Mevlit IkbalDepartment of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Elif Yilmaz GulecMedical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Alper GezdiriciMedical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Erkan KoparirMedical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Fatma EkiciMedical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Salih CoskunDepartment of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
Salih CicekMedical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
Kadri KaraerIntergen Genetic Center, Ankara 06700, Turkey.
Asuman KoparirDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Mehmet Bugrahan DuzDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Emre KiratDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Elif FenerciogluDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Hakan UlucanDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Mehmet SevenDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Tulay GuranDepartment of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
Nursel ElciogluDepartment of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Mahmut Selman YildirimDepartment of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
Dilek AktasDamagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Mehmet AlikaşifoğluDamagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Mehmet TureDepartment of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Tahsin YakutDepartment of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
John D OvertonRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Adnan YukselBiruni University, Istanbul 34010, Turkey.
Mustafa OzenBiruni University, Istanbul 34010, Turkey.
Donna M MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
David R AdamsUndiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Wendy K ChungDepartment of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Baylor College of Medicine · USIstanbul University · TRİstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi · TRColumbia University Irving Medical Center · USEge University · TRMarmara University · TRBiruni University · TRBursa Uludağ Üni̇versi̇tesi̇ · TRDr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi · TRHacettepe University · TRKaradeniz Technical University · TRRegeneron (United States) · USBalıkesir University · TRBaylor Genetics · USBezmiâlem Vakıf Üniversitesi · TRBroad Institute · USDicle University · TREskişehir Osmangazi University · TRGaziantep Children's Hospital · TRIntergen (Turkey) · TR
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MGenome analysis to elucidate molecular mechanisms for peripheral neuropathiesK23NS078056 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI WISZNIEWSKI, WOJCIECH KRZYSZTOF · 2012 to 2016
$783kNHGRI NIH HHS 5U54HG003273NHGRI NIH HHS U54 HG003273NHGRI NIH HHS U54 HG006542NHGRI NIH HHS U54HG006542NIGMS NIH HHS T32 GM007526NIGMS NIH HHS T32 GM07526NINDS NIH HHS K23 NS078056NINDS NIH HHS K23NS078056NINDS NIH HHS R01 NS058529
Abstract
Development 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.
Indexed as
BrainCohort StudiesDatabases, GeneticFemaleGene Regulatory NetworksGenetic Association StudiesGenetic VariationHumansMaleMendelian Randomization AnalysisNervous System DiseasesPedigree
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