Reanalysis of clinical exome sequencing data

Pengfei Liu; Linyan Meng; Elizabeth A. Normand; Fan Xia; Xiaofei Song; Andrew Ghazi; Jill Rosenfeld; Pilar L. Magoulas; Alicia Braxton; Patricia Ward; Hongzheng Dai; Bo Yuan; Weimin Bi; Rui Xiao; Xia Wang; Theodore Chiang; Francesco Vetrini; Weimin He; Hanyin Cheng; Jie Dong; Charul Gijavanekar; Paul J. Benke; Jonathan A. Bernstein; Tanya Eble; Yasemen Eroglu; Deanna Erwin; Luis Escobar; James B. Gibson; Karen Gripp; Soledad Kleppe; Mary K. Koenig; Andrea M. Lewis; Marvin Natowicz; Pedro Mancias; La Keesha Minor; Fernando Scaglia; Christian P. Schaaf; Haley Streff; Hilary Vernon; Crescenda L. Uhles; Elaine H. Zackai; Nan Wu; V. Reid Sutton; Arthur L. Beaudet; Donna Muzny; Richard A. Gibbs; Jennifer E. Posey; Seema Lalani; Chad Shaw; Christine M. Eng; James R. Lupski; Yaping Yang

doi:10.1056/NEJMc1812033

Reanalysis of clinical exome sequencing data

Pengfei Liu
, Linyan Meng
, Elizabeth A. Normand
, Fan Xia
, Xiaofei Song
, Andrew Ghazi
, Jill Rosenfeld
, Pilar L. Magoulas
, Alicia Braxton
, Patricia Ward
, Hongzheng Dai
, Bo Yuan
, Weimin Bi
, Rui Xiao
, Xia Wang
, Theodore Chiang
, Francesco Vetrini
, Weimin He
, Hanyin Cheng
, Jie Dong

Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya Eble, Yasemen Eroglu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen Gripp, Soledad Kleppe, Mary K. Koenig, Andrea M. Lewis, Marvin Natowicz, Pedro Mancias, La Keesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary Vernon, Crescenda L. Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema Lalani, Chad Shaw, Christine M. Eng, James R. Lupski, Yaping Yang

Department of Pediatrics, Delaware Valley

Baylor College of Medicine
Baylor Genetics, LLC
Memorial Regional Hospital
Stanford University
Oregon Health and Science University
Ascension Health
Dell Children's Medical Center
Hospital Italiano de Buenos Aires
University of Texas Health Science Center at Houston
Cleveland Clinic Foundation
Heidelberg University
Johns Hopkins University
Children's Health
The Children's Hospital of Philadelphia
Chinese Academy of Medical Sciences

Producción científica › revisión exhaustiva

255 Citas (Scopus)

Idioma original	English
Páginas (desde-hasta)	2478-2480
Número de páginas	3
Publicación	New England journal of medicine
Volumen	380
N.º	25
DOI	https://doi.org/10.1056/NEJMc1812033
Estado	Published - 20 jun 2019

Acceder al documento

10.1056/NEJMc1812033

Otros archivos y enlaces

https://www.scopus.com/pages/publications/85067829034

Citar esto

@article{78be4c391f40422da0cee7e7b95b967d,

title = "Reanalysis of clinical exome sequencing data",

author = "Pengfei Liu and Linyan Meng and Normand, \{Elizabeth A.\} and Fan Xia and Xiaofei Song and Andrew Ghazi and Jill Rosenfeld and Magoulas, \{Pilar L.\} and Alicia Braxton and Patricia Ward and Hongzheng Dai and Bo Yuan and Weimin Bi and Rui Xiao and Xia Wang and Theodore Chiang and Francesco Vetrini and Weimin He and Hanyin Cheng and Jie Dong and Charul Gijavanekar and Benke, \{Paul J.\} and Bernstein, \{Jonathan A.\} and Tanya Eble and Yasemen Eroglu and Deanna Erwin and Luis Escobar and Gibson, \{James B.\} and Karen Gripp and Soledad Kleppe and Koenig, \{Mary K.\} and Lewis, \{Andrea M.\} and Marvin Natowicz and Pedro Mancias and Minor, \{La Keesha\} and Fernando Scaglia and Schaaf, \{Christian P.\} and Haley Streff and Hilary Vernon and Uhles, \{Crescenda L.\} and Zackai, \{Elaine H.\} and Nan Wu and \{Reid Sutton\}, V. and Beaudet, \{Arthur L.\} and Donna Muzny and Gibbs, \{Richard A.\} and Posey, \{Jennifer E.\} and Seema Lalani and Chad Shaw and Eng, \{Christine M.\} and Lupski, \{James R.\} and Yaping Yang",

year = "2019",

month = jun,

day = "20",

doi = "10.1056/NEJMc1812033",

language = "English",

volume = "380",

pages = "2478--2480",

journal = "New England journal of medicine",

issn = "0028-4793",

publisher = "Massachussetts Medical Society",

number = "25",

}

Liu, P, Meng, L, Normand, EA, Xia, F, Song, X, Ghazi, A, Rosenfeld, J, Magoulas, PL, Braxton, A, Ward, P, Dai, H, Yuan, B, Bi, W, Xiao, R, Wang, X, Chiang, T, Vetrini, F, He, W, Cheng, H, Dong, J, Gijavanekar, C, Benke, PJ, Bernstein, JA, Eble, T, Eroglu, Y, Erwin, D, Escobar, L, Gibson, JB, Gripp, K, Kleppe, S, Koenig, MK, Lewis, AM, Natowicz, M, Mancias, P, Minor, LK, Scaglia, F, Schaaf, CP, Streff, H, Vernon, H, Uhles, CL, Zackai, EH, Wu, N, Reid Sutton, V, Beaudet, AL, Muzny, D, Gibbs, RA, Posey, JE, Lalani, S, Shaw, C, Eng, CM, Lupski, JR & Yang, Y 2019, 'Reanalysis of clinical exome sequencing data', New England journal of medicine, vol. 380, n.º 25, pp. 2478-2480. https://doi.org/10.1056/NEJMc1812033

TY - JOUR

T1 - Reanalysis of clinical exome sequencing data

AU - Liu, Pengfei

AU - Meng, Linyan

AU - Normand, Elizabeth A.

AU - Xia, Fan

AU - Song, Xiaofei

AU - Ghazi, Andrew

AU - Rosenfeld, Jill

AU - Magoulas, Pilar L.

AU - Braxton, Alicia

AU - Ward, Patricia

AU - Dai, Hongzheng

AU - Yuan, Bo

AU - Bi, Weimin

AU - Xiao, Rui

AU - Wang, Xia

AU - Chiang, Theodore

AU - Vetrini, Francesco

AU - He, Weimin

AU - Cheng, Hanyin

AU - Dong, Jie

AU - Gijavanekar, Charul

AU - Benke, Paul J.

AU - Bernstein, Jonathan A.

AU - Eble, Tanya

AU - Eroglu, Yasemen

AU - Erwin, Deanna

AU - Escobar, Luis

AU - Gibson, James B.

AU - Gripp, Karen

AU - Kleppe, Soledad

AU - Koenig, Mary K.

AU - Lewis, Andrea M.

AU - Natowicz, Marvin

AU - Mancias, Pedro

AU - Minor, La Keesha

AU - Scaglia, Fernando

AU - Schaaf, Christian P.

AU - Streff, Haley

AU - Vernon, Hilary

AU - Uhles, Crescenda L.

AU - Zackai, Elaine H.

AU - Wu, Nan

AU - Reid Sutton, V.

AU - Beaudet, Arthur L.

AU - Muzny, Donna

AU - Gibbs, Richard A.

AU - Posey, Jennifer E.

AU - Lalani, Seema

AU - Shaw, Chad

AU - Eng, Christine M.

AU - Lupski, James R.

AU - Yang, Yaping

PY - 2019/6/20

Y1 - 2019/6/20

UR - https://www.scopus.com/pages/publications/85067829034

U2 - 10.1056/NEJMc1812033

DO - 10.1056/NEJMc1812033

M3 - Letter

C2 - 31216405

AN - SCOPUS:85067829034

SN - 0028-4793

VL - 380

SP - 2478

EP - 2480

JO - New England journal of medicine

JF - New England journal of medicine

IS - 25

ER -