换一批
第一作者：
Tomasz,Gambin
第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Institute of Computer Science, Warsaw University of Technology, Warsaw, 00-665, Poland.;Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland.
作者：
Tomasz,Gambin [1]
;
Bo,Yuan [2]
;
Weimin,Bi [2]
;
Pengfei,Liu [2]
;
Jill A,Rosenfeld [3]
;
Zeynep,Coban-Akdemir [3]
;
Amber N,Pursley [3]
;
Sandesh C S,Nagamani [3]
;
Ronit,Marom [3]
;
Sailaja,Golla [4]
;
Lauren,Dengle [4]
;
Heather G,Petrie [5]
;
Reuben,Matalon [6]
;
Lisa,Emrick [7]
;
Monica B,Proud [7]
;
Diane,Treadwell-Deering [8]
;
Hsiao-Tuan,Chao [9]
;
Hannele,Koillinen [10]
;
Chester,Brown [11]
;
Nora,Urraca [12]
;
Roya,Mostafavi [12]
;
Saunder,Bernes [13]
;
Elizabeth R,Roeder [14]
;
Kimberly M,Nugent [14]
;
Patricia I,Bader [15]
;
Gary,Bellus [16]
;
Michael,Cummings [17]
;
Hope,Northrup [18]
;
Myla,Ashfaq [18]
;
Rachel,Westman [19]
;
Robert,Wildin [20]
;
Anita E,Beck [21]
;
LaDonna,Immken [22]
;
Lindsay,Elton [23]
;
Shaun,Varghese [24]
;
Edward,Buchanan [25]
;
Laurence,Faivre [26]
;
Mathilde,Lefebvre [26]
;
Christian P,Schaaf [27]
;
Magdalena,Walkiewicz [2]
;
Yaping,Yang [2]
;
Sung-Hae L,Kang [2]
;
Seema R,Lalani [28]
;
Carlos A,Bacino [28]
;
Arthur L,Beaudet [28]
;
Amy M,Breman [2]
;
Janice L,Smith [2]
;
Sau Wai,Cheung [2]
;
James R,Lupski [29]
;
Ankita,Patel [2]
;
Chad A,Shaw [2]
;
Paweł,Stankiewicz [30]
作者单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Institute of Computer Science, Warsaw University of Technology, Warsaw, 00-665, Poland.;Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland.
[1]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Baylor Genetics, Houston, TX, 77021, USA.
[2]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
[3]
Division of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
[4]
Children's Health Dallas, Dallas, TX, 75235, USA.
[5]
Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, 77555, USA.;Department of Biochemistry and Molecular Biology, University of Texas Medical Branch, Galveston, TX, 77555, USA.
[6]
Department of Pediatric, Section of Child Neurology, Baylor College of Medicine, Houston, TX, 77030, USA.
[7]
Department of Psychiatry and Behavioral Sciences, Child and Adolescent Psychiatry Division, Baylor College of Medicine, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
[8]
Department of Pediatric, Section of Child Neurology, Baylor College of Medicine, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
[9]
Department of Clinical Genetics, Helsinki University Hospital, Helsinki, 00029, Finland.
[10]
Genetics Division, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, 38105, USA.;Le Bonheur Children's Hospital, Memphis, TN, 38103, USA.
[11]
Le Bonheur Children's Hospital, Memphis, TN, 38103, USA.
[12]
Phoenix Children's Hospital, Phoenix, AZ, 85016, USA.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
[14]
Northeast Indiana Genetic Counseling Center, Wayne, IN, 46804, USA.
[15]
Section of Clinical Genetics & Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA.
[16]
Department of Psychiatry Erie County Medical Center, Buffalo, NY, 14215, USA.
[17]
Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
[18]
St. Luke's Children's Hospital, Boise, ID, 83702, USA.
[19]
St. Luke's Children's Hospital, Boise, ID, 83702, USA.;The National Human Genome Research Institute, Bethesda, MD, 20892, USA.
[20]
Seattle Children's Hospital, Seattle, WA, 98105, USA.;Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.
[21]
Dell Children's Medical Center, Austin, TX, 78723, USA.
[22]
Child Neurology Consultants of Austin, Austin, TX, 78731, USA.
[23]
THINK Neurology for Kids/Children's Memorial Hermann Hospital, The Woodlands, TX, 77380, USA.
[24]
Division of Plastic Surgery, Baylor College of Medicine, Houston, TX, 77030, USA.
[25]
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.
[26]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
[27]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Baylor Genetics, Houston, TX, 77021, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
[28]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.;Texas Children's Hospital, Houston, TX, 77030, USA.
[29]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA. pawels@bcm.edu.;Baylor Genetics, Houston, TX, 77021, USA. pawels@bcm.edu.
[30]
医学主题词
队列研究(Cohort Studies);DNA拷贝数变异(DNA Copy Number Variations);外显子(Exons);遗传性疾病, 先天性(Genetic Diseases, Inborn);基因组, 人(Genome, Human);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);膜蛋白质类(Membrane Proteins);回顾性研究(Retrospective Studies);转录因子(Transcription Factors)
DOI
10.1186/s13073-017-0472-7
PMID
28934986
发布时间
2022-03-21
- 浏览17
Genome medicine
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