Cover Image

Correspondence: reanalysis of clinical exome sequencing data

Saved in:
Bibliographic Details
Main Authors: Liu, Pengfei (Author) , Meng, Linyan (Author) , Normand, Elizabeth A. (Author) , Xia, Fan (Author) , Song, Xiaofei (Author) , Ghazi, Andrew (Author) , Rosenfeld, Jill (Author) , Magoulas, Pilar L. (Author) , Braxton, Alicia (Author) , Ward, Patricia (Author) , Dai, Hongzheng (Author) , Yuan, Bo (Author) , Bi, Weimin (Author) , Xiao, Rui (Author) , Wang, Xia (Author) , Chiang, Theodore (Author) , Vetrini, Francesco (Author) , He, Weimin (Author) , Cheng, Hanyin (Author) , Dong, Jie (Author) , Gijavanekar, Charul (Author) , Benke, Paul J. (Author) , Bernstein, Jonathan A. (Author) , Eble, Tanya (Author) , Eroglu, Yasemen (Author) , Erwin, Deanna (Author) , Escobar, Luis (Author) , Gibson, James B. (Author) , Gripp, Karen (Author) , Kleppe, Soledad (Author) , Koenig, Mary K. (Author) , Lewis, Andrea M. (Author) , Natowicz, Marvin (Author) , Mancias, Pedro (Author) , Minor, LaKeesha (Author) , Scaglia, Fernando (Author) , Schaaf, Christian P. (Author) , Streff, Haley (Author) , Vernon, Hilary (Author) , Uhles, Crescenda L. (Author) , Zackai, Elaine H. (Author) , Wu, Nan (Author) , Sutton, V. Reid (Author) , Beaudet, Arthur L. (Author) , Muzny, Donna (Author) , Gibbs, Richard A. (Author) , Posey, Jennifer E. (Author) , Lalani, Seema (Author) , Shaw, Chad (Author) , Eng, Christine M. (Author) , Lupski, James R. (Author) , Yang, Yaping (Author)
Format: Article (Journal) Editorial
Language:English
Published: August 15, 2019
In: The New England journal of medicine
Year: 2019, Volume: 380, Issue: 25, Pages: 2478-2480
ISSN:1533-4406
DOI:10.1056/NEJMc1812033
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1056/NEJMc1812033
Get full text
Author Notes:Pengfei Liu, Ph.D., James R. Lupski, M.D., Ph.D., Yaping Yang, Ph.D., and others

MARC

LEADER 00000caa a2200000 c 4500
001 1742209955
003 DE-627
005 20230110092847.0
007 cr uuu---uuuuu
008 201207s2019 xx |||||o 00| ||eng c
024 7 |a 10.1056/NEJMc1812033  |2 doi 
035 |a (DE-627)1742209955 
035 |a (DE-599)KXP1742209955 
035 |a (OCoLC)1341383272 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Liu, Pengfei  |e VerfasserIn  |0 (DE-588)1207775916  |0 (DE-627)169410057X  |4 aut 
245 1 0 |a Correspondence: reanalysis of clinical exome sequencing data  |c Pengfei Liu, Ph.D., James R. Lupski, M.D., Ph.D., Yaping Yang, Ph.D., and others 
264 1 |c August 15, 2019 
300 |a 3 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a This letter was updated on August 15, 2019, at NEJM.org 
500 |a Complete list of authors: 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, LaKeesha 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 
500 |a Gesehen am 03.12.2020 
700 1 |a Meng, Linyan  |e VerfasserIn  |4 aut 
700 1 |a Normand, Elizabeth A.  |e VerfasserIn  |4 aut 
700 1 |a Xia, Fan  |e VerfasserIn  |4 aut 
700 1 |a Song, Xiaofei  |e VerfasserIn  |4 aut 
700 1 |a Ghazi, Andrew  |e VerfasserIn  |4 aut 
700 1 |a Rosenfeld, Jill  |e VerfasserIn  |4 aut 
700 1 |a Magoulas, Pilar L.  |e VerfasserIn  |4 aut 
700 1 |a Braxton, Alicia  |e VerfasserIn  |4 aut 
700 1 |a Ward, Patricia  |e VerfasserIn  |4 aut 
700 1 |a Dai, Hongzheng  |e VerfasserIn  |4 aut 
700 1 |a Yuan, Bo  |e VerfasserIn  |0 (DE-588)1277650063  |0 (DE-627)1830618628  |4 aut 
700 1 |a Bi, Weimin  |e VerfasserIn  |4 aut 
700 1 |a Xiao, Rui  |e VerfasserIn  |4 aut 
700 1 |a Wang, Xia  |e VerfasserIn  |4 aut 
700 1 |a Chiang, Theodore  |e VerfasserIn  |4 aut 
700 1 |a Vetrini, Francesco  |e VerfasserIn  |4 aut 
700 1 |a He, Weimin  |e VerfasserIn  |4 aut 
700 1 |a Cheng, Hanyin  |e VerfasserIn  |4 aut 
700 1 |a Dong, Jie  |e VerfasserIn  |4 aut 
700 1 |a Gijavanekar, Charul  |e VerfasserIn  |4 aut 
700 1 |a Benke, Paul J.  |e VerfasserIn  |4 aut 
700 1 |a Bernstein, Jonathan A.  |e VerfasserIn  |4 aut 
700 1 |a Eble, Tanya  |e VerfasserIn  |4 aut 
700 1 |a Eroglu, Yasemen  |e VerfasserIn  |4 aut 
700 1 |a Erwin, Deanna  |e VerfasserIn  |4 aut 
700 1 |a Escobar, Luis  |e VerfasserIn  |4 aut 
700 1 |a Gibson, James B.  |e VerfasserIn  |4 aut 
700 1 |a Gripp, Karen  |e VerfasserIn  |4 aut 
700 1 |a Kleppe, Soledad  |e VerfasserIn  |4 aut 
700 1 |a Koenig, Mary K.  |e VerfasserIn  |4 aut 
700 1 |a Lewis, Andrea M.  |e VerfasserIn  |4 aut 
700 1 |a Natowicz, Marvin  |e VerfasserIn  |4 aut 
700 1 |a Mancias, Pedro  |e VerfasserIn  |4 aut 
700 1 |a Minor, LaKeesha  |e VerfasserIn  |4 aut 
700 1 |a Scaglia, Fernando  |e VerfasserIn  |4 aut 
700 1 |a Schaaf, Christian P.  |d 1978-  |e VerfasserIn  |0 (DE-588)130397318  |0 (DE-627)500686025  |0 (DE-576)298170345  |4 aut 
700 1 |a Streff, Haley  |e VerfasserIn  |4 aut 
700 1 |a Vernon, Hilary  |e VerfasserIn  |4 aut 
700 1 |a Uhles, Crescenda L.  |e VerfasserIn  |4 aut 
700 1 |a Zackai, Elaine H.  |e VerfasserIn  |4 aut 
700 1 |a Wu, Nan  |e VerfasserIn  |4 aut 
700 1 |a Sutton, V. Reid  |e VerfasserIn  |4 aut 
700 1 |a Beaudet, Arthur L.  |e VerfasserIn  |4 aut 
700 1 |a Muzny, Donna  |e VerfasserIn  |4 aut 
700 1 |a Gibbs, Richard A.  |e VerfasserIn  |4 aut 
700 1 |a Posey, Jennifer E.  |e VerfasserIn  |4 aut 
700 1 |a Lalani, Seema  |e VerfasserIn  |4 aut 
700 1 |a Shaw, Chad  |e VerfasserIn  |4 aut 
700 1 |a Eng, Christine M.  |e VerfasserIn  |4 aut 
700 1 |a Lupski, James R.  |e VerfasserIn  |4 aut 
700 1 |a Yang, Yaping  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t The New England journal of medicine  |d Waltham, Mass. : MMS, 1928  |g 380(2019), 25, Seite 2478-2480  |h Online-Ressource  |w (DE-627)266889484  |w (DE-600)1468837-2  |w (DE-576)075962454  |x 1533-4406  |7 nnas  |a Correspondence: reanalysis of clinical exome sequencing data 
773 1 8 |g volume:380  |g year:2019  |g number:25  |g pages:2478-2480  |g extent:3  |a Correspondence: reanalysis of clinical exome sequencing data 
856 4 0 |u https://doi.org/10.1056/NEJMc1812033  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20201207 
993 |a Editorial 
994 |a 2019 
998 |g 130397318  |a Schaaf, Christian P.  |m 130397318:Schaaf, Christian P.  |d 910000  |d 911500  |e 910000PS130397318  |e 911500PS130397318  |k 0/910000/  |k 1/910000/911500/  |p 37 
999 |a KXP-PPN1742209955  |e 3818523266 
BIB |a Y 
SER |a journal 
JSO |a {"language":["eng"],"recId":"1742209955","note":["This letter was updated on August 15, 2019, at NEJM.org","Complete list of authors: 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, LaKeesha 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","Gesehen am 03.12.2020"],"origin":[{"dateIssuedDisp":"August 15, 2019","dateIssuedKey":"2019"}],"name":{"displayForm":["Pengfei Liu, Ph.D., James R. Lupski, M.D., Ph.D., Yaping Yang, Ph.D., and others"]},"person":[{"role":"aut","given":"Pengfei","family":"Liu","display":"Liu, Pengfei"},{"given":"Linyan","role":"aut","display":"Meng, Linyan","family":"Meng"},{"display":"Normand, Elizabeth A.","family":"Normand","given":"Elizabeth A.","role":"aut"},{"given":"Fan","role":"aut","display":"Xia, Fan","family":"Xia"},{"role":"aut","given":"Xiaofei","family":"Song","display":"Song, Xiaofei"},{"role":"aut","given":"Andrew","family":"Ghazi","display":"Ghazi, Andrew"},{"role":"aut","given":"Jill","family":"Rosenfeld","display":"Rosenfeld, Jill"},{"display":"Magoulas, Pilar L.","family":"Magoulas","given":"Pilar L.","role":"aut"},{"role":"aut","given":"Alicia","family":"Braxton","display":"Braxton, Alicia"},{"family":"Ward","display":"Ward, Patricia","role":"aut","given":"Patricia"},{"role":"aut","given":"Hongzheng","family":"Dai","display":"Dai, Hongzheng"},{"given":"Bo","role":"aut","display":"Yuan, Bo","family":"Yuan"},{"role":"aut","given":"Weimin","family":"Bi","display":"Bi, Weimin"},{"family":"Xiao","display":"Xiao, Rui","role":"aut","given":"Rui"},{"family":"Wang","display":"Wang, Xia","role":"aut","given":"Xia"},{"display":"Chiang, Theodore","family":"Chiang","given":"Theodore","role":"aut"},{"role":"aut","given":"Francesco","family":"Vetrini","display":"Vetrini, Francesco"},{"role":"aut","given":"Weimin","family":"He","display":"He, Weimin"},{"family":"Cheng","display":"Cheng, Hanyin","role":"aut","given":"Hanyin"},{"role":"aut","given":"Jie","family":"Dong","display":"Dong, Jie"},{"given":"Charul","role":"aut","display":"Gijavanekar, Charul","family":"Gijavanekar"},{"role":"aut","given":"Paul J.","family":"Benke","display":"Benke, Paul J."},{"family":"Bernstein","display":"Bernstein, Jonathan A.","role":"aut","given":"Jonathan A."},{"display":"Eble, Tanya","family":"Eble","given":"Tanya","role":"aut"},{"display":"Eroglu, Yasemen","family":"Eroglu","given":"Yasemen","role":"aut"},{"family":"Erwin","display":"Erwin, Deanna","role":"aut","given":"Deanna"},{"given":"Luis","role":"aut","display":"Escobar, Luis","family":"Escobar"},{"family":"Gibson","display":"Gibson, James B.","role":"aut","given":"James B."},{"display":"Gripp, Karen","family":"Gripp","given":"Karen","role":"aut"},{"given":"Soledad","role":"aut","display":"Kleppe, Soledad","family":"Kleppe"},{"display":"Koenig, Mary K.","family":"Koenig","given":"Mary K.","role":"aut"},{"role":"aut","given":"Andrea M.","family":"Lewis","display":"Lewis, Andrea M."},{"display":"Natowicz, Marvin","family":"Natowicz","given":"Marvin","role":"aut"},{"role":"aut","given":"Pedro","family":"Mancias","display":"Mancias, Pedro"},{"role":"aut","given":"LaKeesha","family":"Minor","display":"Minor, LaKeesha"},{"role":"aut","given":"Fernando","family":"Scaglia","display":"Scaglia, Fernando"},{"family":"Schaaf","display":"Schaaf, Christian P.","role":"aut","given":"Christian P."},{"given":"Haley","role":"aut","display":"Streff, Haley","family":"Streff"},{"role":"aut","given":"Hilary","family":"Vernon","display":"Vernon, Hilary"},{"role":"aut","given":"Crescenda L.","family":"Uhles","display":"Uhles, Crescenda L."},{"family":"Zackai","display":"Zackai, Elaine H.","role":"aut","given":"Elaine H."},{"given":"Nan","role":"aut","display":"Wu, Nan","family":"Wu"},{"role":"aut","given":"V. Reid","family":"Sutton","display":"Sutton, V. Reid"},{"family":"Beaudet","display":"Beaudet, Arthur L.","role":"aut","given":"Arthur L."},{"role":"aut","given":"Donna","family":"Muzny","display":"Muzny, Donna"},{"family":"Gibbs","display":"Gibbs, Richard A.","role":"aut","given":"Richard A."},{"family":"Posey","display":"Posey, Jennifer E.","role":"aut","given":"Jennifer E."},{"display":"Lalani, Seema","family":"Lalani","given":"Seema","role":"aut"},{"role":"aut","given":"Chad","family":"Shaw","display":"Shaw, Chad"},{"role":"aut","given":"Christine M.","family":"Eng","display":"Eng, Christine M."},{"given":"James R.","role":"aut","display":"Lupski, James R.","family":"Lupski"},{"given":"Yaping","role":"aut","display":"Yang, Yaping","family":"Yang"}],"id":{"eki":["1742209955"],"doi":["10.1056/NEJMc1812033"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"pubHistory":["198.1928 -"],"name":{"displayForm":["Massachusetts Medical Society"]},"language":["eng"],"recId":"266889484","note":["Gesehen am 04.08.25"],"origin":[{"publisherPlace":"Waltham, Mass. ; Boston, Mass.","publisher":"MMS ; MMS","dateIssuedDisp":"1928-","dateIssuedKey":"1928"}],"corporate":[{"display":"Massachusetts Medical Society","role":"isb"}],"id":{"issn":["1533-4406"],"eki":["266889484"],"zdb":["1468837-2"]},"title":[{"subtitle":"NEJM","title_sort":"New England journal of medicine","title":"The New England journal of medicine"}],"physDesc":[{"extent":"Online-Ressource"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"part":{"issue":"25","pages":"2478-2480","volume":"380","year":"2019","text":"380(2019), 25, Seite 2478-2480","extent":"3"},"disp":"Correspondence: reanalysis of clinical exome sequencing dataThe New England journal of medicine","titleAlt":[{"title":"NEJM"}]}],"physDesc":[{"extent":"3 S."}],"title":[{"title":"Correspondence: reanalysis of clinical exome sequencing data","title_sort":"Correspondence: reanalysis of clinical exome sequencing data"}]} 
SRT |a LIUPENGFEICORRESPOND1520 

Similar Items