Clinical Exome Sequencing The New Standard in Genetic Diagnosis

被引:12
作者
Gomez, Christopher M. [1 ]
Das, Soma [2 ]
机构
[1] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
关键词
D O I
10.1001/jamaneurol.2014.2015
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1215 / 1216
页数:3
相关论文
共 8 条
[1]   Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia [J].
Fogel, Brent L. ;
Lee, Hane ;
Deignan, Joshua L. ;
Strom, Samuel P. ;
Kantarci, Sibel ;
Wang, Xizhe ;
Quintero-Rivera, Fabiola ;
Vilain, Eric ;
Grody, Wayne W. ;
Perlman, Susan ;
Geschwind, Daniel H. ;
Nelson, Stanley F. .
JAMA NEUROLOGY, 2014, 71 (10) :1237-1246
[2]   ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [J].
Green, Robert C. ;
Berg, Jonathan S. ;
Grody, Wayne W. ;
Kalia, Sarah S. ;
Korf, Bruce R. ;
Martin, Christa L. ;
McGuire, Amy L. ;
Nussbaum, Robert L. ;
O'Daniel, Julianne M. ;
Ormond, Kelly E. ;
Rehm, Heidi L. ;
Watson, Michael S. ;
Williams, Marc S. ;
Biesecker, Leslie G. .
GENETICS IN MEDICINE, 2013, 15 (07) :565-574
[3]   The usefulness of whole-exome sequencing in routine clinical practice [J].
Iglesias, Alejandro ;
Anyane-Yeboa, Kwame ;
Wynn, Julia ;
Wilson, Ashley ;
Cho, Megan Truitt ;
Guzman, Edwin ;
Sisson, Rebecca ;
Egan, Claire ;
Chung, Wendy K. .
GENETICS IN MEDICINE, 2014, 16 (12) :922-931
[4]   ClinVar: public archive of relationships among sequence variation and human phenotype [J].
Landrum, Melissa J. ;
Lee, Jennifer M. ;
Riley, George R. ;
Jang, Wonhee ;
Rubinstein, Wendy S. ;
Church, Deanna M. ;
Maglott, Donna R. .
NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) :D980-D985
[5]   Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood [J].
Ohba, Chihiro ;
Osaka, Hitoshi ;
Iai, Mizue ;
Yamashita, Sumimasa ;
Suzuki, Yume ;
Aida, Noriko ;
Shimozawa, Nobuyuki ;
Takamura, Ayumi ;
Doi, Hiroshi ;
Tomita-Katsumoto, Atsuko ;
Nishiyama, Kiyomi ;
Tsurusaki, Yoshinori ;
Nakashima, Mitsuko ;
Miyake, Noriko ;
Eto, Yoshikatsu ;
Tanaka, Fumiaki ;
Matsumoto, Naomichi ;
Saitsu, Hirotomo .
NEUROGENETICS, 2013, 14 (3-4) :225-232
[6]   ACMG clinical laboratory standards for next-generation sequencing [J].
Rehm, Heidi L. ;
Bale, Sherri J. ;
Bayrak-Toydemir, Pinar ;
Berg, Jonathan S. ;
Brown, Kerry K. ;
Deignan, Joshua L. ;
Friez, Michael J. ;
Funke, Birgit H. ;
Hegde, Madhuri R. ;
Lyon, Elaine .
GENETICS IN MEDICINE, 2013, 15 (09) :733-747
[7]   Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia [J].
Sawyer, Sarah L. ;
Schwartzentruber, Jeremy ;
Beaulieu, Chandree L. ;
Dyment, David ;
Smith, Amanda ;
Chardon, Jodi Warman ;
Yoon, Grace ;
Rouleau, Guy A. ;
Suchowersky, Oksana ;
Siu, Victoria ;
Murphy, Lisa ;
Hegele, Robert A. ;
Marshall, Christian R. ;
Bulman, Dennis E. ;
Majewski, Jacek ;
Tarnopolsky, Mark ;
Boycott, Kym M. .
HUMAN MUTATION, 2014, 35 (01) :45-49
[8]   Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders [J].
Yang, Yaping ;
Muzny, Donna M. ;
Reid, Jeffrey G. ;
Bainbridge, Matthew N. ;
Willis, Alecia ;
Ward, Patricia A. ;
Braxton, Alicia ;
Beuten, Joke ;
Xia, Fan ;
Niu, Zhiyv ;
Hardison, Matthew ;
Person, Richard ;
Bekheirnia, Mir Reza ;
Leduc, Magalie S. ;
Kirby, Amelia ;
Peter Pham ;
Scull, Jennifer ;
Wang, Min ;
Ding, Yan ;
Plon, Sharon E. ;
Lupski, James R. ;
Beaudet, Arthur L. ;
Gibbs, Richard A. ;
Eng, Christine M. .
NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (16) :1502-1511