换一批
换一批Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
作者：
Ender,Karaca [1]
;
Tamar,Harel [1]
;
Davut,Pehlivan [1]
;
Shalini N,Jhangiani [2]
;
Tomasz,Gambin [1]
;
Zeynep,Coban Akdemir [1]
;
Claudia,Gonzaga-Jauregui [3]
;
Serkan,Erdin [4]
;
Yavuz,Bayram [1]
;
Ian M,Campbell [1]
;
Jill V,Hunter [5]
;
Mehmed M,Atik [1]
;
Hilde,Van Esch [6]
;
Bo,Yuan [1]
;
Wojciech,Wiszniewski [1]
;
Sedat,Isikay [7]
;
Gozde,Yesil [8]
;
Ozge O,Yuregir [9]
;
Sevcan,Tug Bozdogan [10]
;
Huseyin,Aslan [11]
;
Hatip,Aydin [12]
;
Tulay,Tos [13]
;
Ayse,Aksoy [14]
;
Darryl C,De Vivo [15]
;
Preti,Jain [16]
;
B Bilge,Geckinli [17]
;
Ozlem,Sezer [18]
;
Davut,Gul [19]
;
Burak,Durmaz [20]
;
Ozgur,Cogulu [20]
;
Ferda,Ozkinay [20]
;
Vehap,Topcu [21]
;
Sukru,Candan [22]
;
Alper Han,Cebi [23]
;
Mevlit,Ikbal [23]
;
Elif,Yilmaz Gulec [24]
;
Alper,Gezdirici [24]
;
Erkan,Koparir [24]
;
Fatma,Ekici [24]
;
Salih,Coskun [25]
;
Salih,Cicek [26]
;
Kadri,Karaer [27]
;
Asuman,Koparir [28]
;
Mehmet Bugrahan,Duz [28]
;
Emre,Kirat [28]
;
Elif,Fenercioglu [28]
;
Hakan,Ulucan [28]
;
Mehmet,Seven [28]
;
Tulay,Guran [29]
;
Nursel,Elcioglu [30]
;
Mahmut Selman,Yildirim [31]
;
Dilek,Aktas [32]
;
Mehmet,Alikaşifoğlu [32]
;
Mehmet,Ture [33]
;
Tahsin,Yakut [33]
;
John D,Overton [3]
;
Adnan,Yuksel [34]
;
Mustafa,Ozen [34]
;
Donna M,Muzny [2]
;
David R,Adams [35]
;
Eric,Boerwinkle [36]
;
Wendy K,Chung [37]
;
Richard A,Gibbs [2]
;
James R,Lupski [38]
作者单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[1]
Department 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.
[2]
Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
[3]
Center 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.
[4]
Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
[5]
Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
[6]
Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
[7]
Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
[8]
Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
[9]
Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
[10]
Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
[11]
Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
[12]
Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
[13]
Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
[14]
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
[15]
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
[16]
Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
[17]
Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
[18]
Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
[19]
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
[20]
Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
[21]
Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
[22]
Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
[23]
Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
[24]
Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
[25]
Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
[26]
Intergen Genetic Center, Ankara 06700, Turkey.
[27]
Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
[28]
Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
[29]
Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
[30]
Department of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
[31]
Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
[32]
Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
[33]
Biruni University, Istanbul 34010, Turkey.
[34]
Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
[35]
Human 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.
[36]
Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
[37]
Department 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.
[38]
主题词
脑(Brain);队列研究(Cohort Studies);数据库, 遗传学(Databases, Genetic);女(雌)性(Female);基因调控网络(Gene Regulatory Networks);遗传关联研究(Genetic Association Studies);遗传变异(Genetic Variation);人类(Humans);男(雄)性(Male);孟德尔随机化分析(Mendelian Randomization Analysis);神经系统疾病(Nervous System Diseases);系谱(Pedigree)
DOI
10.1016/j.neuron.2015.09.048
PMID
26539891
发布时间
2018-11-13
- 浏览10
Neuron
Neuron
499-513页
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