Reanalysis of Clinical Exome Sequencing Data
N Engl J Med
.
2019 Jun 20;380(25):2478-2480.
doi: 10.1056/NEJMc1812033.
Authors
Pengfei Liu
1
,
Linyan Meng
1
,
Elizabeth A Normand
1
,
Fan Xia
1
,
Xiaofei Song
1
,
Andrew Ghazi
1
,
Jill Rosenfeld
1
,
Pilar L Magoulas
1
,
Alicia Braxton
1
,
Patricia Ward
1
,
Hongzheng Dai
1
,
Bo Yuan
1
,
Weimin Bi
1
,
Rui Xiao
1
,
Xia Wang
1
,
Theodore Chiang
1
,
Francesco Vetrini
2
,
Weimin He
2
,
Hanyin Cheng
2
,
Jie Dong
2
,
Charul Gijavanekar
2
,
Paul J Benke
3
,
Jonathan A Bernstein
4
,
Tanya Eble
1
,
Yasemen Eroglu
5
,
Deanna Erwin
1
,
Luis Escobar
6
,
James B Gibson
7
,
Karen Gripp
8
,
Soledad Kleppe
9
,
Mary K Koenig
10
,
Andrea M Lewis
1
,
Marvin Natowicz
11
,
Pedro Mancias
10
,
LaKeesha Minor
10
,
Fernando Scaglia
1
,
Christian P Schaaf
12
,
Haley Streff
1
,
Hilary Vernon
13
,
Crescenda L Uhles
14
,
Elaine H Zackai
15
,
Nan Wu
16
,
V Reid Sutton
1
,
Arthur L Beaudet
1
,
Donna Muzny
1
,
Richard A Gibbs
1
,
Jennifer E Posey
1
,
Seema Lalani
1
,
Chad Shaw
1
,
Christine M Eng
1
,
James R Lupski
1
,
Yaping Yang
1
Affiliations
1
Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu.
2
Baylor Genetics, Houston, TX.
3
Joe DiMaggio Children's Hospital, Hollywood, FL.
4
Stanford University School of Medicine, Stanford, CA.
5
Oregon Health and Science University, Portland, OR.
6
St. Vincent's Peyton Manning Children's Hospital, Indianapolis, IN.
7
Dell Children's Medical Group, Austin, TX.
8
A.I. DuPont Hospital for Children, Wilmington, DE.
9
Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
10
UTHealth at McGovern Medical School, Houston, TX.
11
Cleveland Clinic, Cleveland, OH.
12
Heidelberg University, Heidelberg, Germany.
13
Johns Hopkins School of Medicine, Baltimore, MD.
14
Children's Health Hospital, Dallas, TX.
15
Children's Hospital of Philadelphia, Philadelphia, PA.
16
Peking Union Medical College Hospital, Beijing, China.
PMID:
31216405
PMCID:
PMC6934160
DOI:
10.1056/NEJMc1812033
No abstract available
Publication types
Letter
MeSH terms
Exome
Exome Sequencing*
Genetic Diseases, Inborn / diagnosis
Genetic Diseases, Inborn / genetics*
Genetic Testing / methods*
Humans
Mutation
Phenotype
Sequence Analysis, DNA / methods*
Grants and funding
K08 HG008986/HG/NHGRI NIH HHS/United States
R35 NS105078/NS/NINDS NIH HHS/United States
U54 HG003273/HG/NHGRI NIH HHS/United States
UM1 HG006542/HG/NHGRI NIH HHS/United States