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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gui, Hongsheng; Schriemer, Duco; Cheng, William W.; Chauhan, Rajendra K.; Antiňolo, Guillermo; Berrios, Courtney; Bleda, Marta; Brooks, Alice S.; Brouwer, Rutger W.W.; Burns, Alan J.; Cherny, Stacey S.; Dopazo, Joaquin; Eggen, Bart J.L.; Griseri, Paola; Jalloh, Binta; Le, Thuy Linh; Lui, Vincent C.H.; Luzón-Toro, Berta; Matera, Ivana; Ngan, Elly S.W.; Pelet, Anna; Ruiz-Ferrer, Macarena; Sham, Pak C.; Shepherd, Iain T.; So, Man Ting; Sribudiani, Yunia; Tang, Clara S.M.; van den Hout, Mirjam C.G.N.; van der Linde, Herma C.; van Ham, Tjakko J.; van IJcken, Wilfred F.J.; Verheij, Joke B.G.M.; Amiel, Jeanne; Borrego, Salud; Ceccherini, Isabella; Chakravarti, Aravinda; Lyonnet, Stanislas; Tam, Paul K.H.; Garcia-Barceló, Maria Mercè ; Hofstra, Robert M.W. 

Tipo: Artículo
Año de Publicación: 2017
Volumen: 18
Número: 1
Páginas: 48 -
Acceso abierto: Vía dorada
Fuente Nº Citas Fecha Actualización
scopus6713-11-2024
wos6313-11-2024
Dimensions
PlumX
Altmetric

Año: 2017

Journal Impact Factor (JIF): 13.2140

CategoríaEdiciónPosiciónCuartilTercilDecil
BIOTECHNOLOGY & APPLIED MICROBIOLOGYSCIE4/161Q1T1D1
GENETICS & HEREDITYSCIE4/171Q1T1D1

Año: 2017

Journal Citation Indicator (JCI): 3,930

CategoríaPosiciónCuartilTercilDecilPercentil
BIOTECHNOLOGY & APPLIED MICROBIOLOGY3/162Q1T1D198,46
GENETICS & HEREDITY3/179Q1T1D198,60
No existen datos para la revista de esta publicación.
Agencia Código de Proyecto
-201309176158
General Research FundHKU 777612
Health and Medical Research FundHMRF 01121326; HMRF 02131866; 01121476
HKU201110159001
Italian Ministry of Health through "Cinque per mille"-
Maag Lever Darm stichtingWO09-62
NIHR37 HD28088
NINDS5R21NS082546
Regional Ministry of Innovation, Science and Enterprise of the Autonomous Government of AndalusiaCTS-7447
Research Grant Council of the Hong Kong Special Administrative Region, ChinaT12C-714/14R
Ricerca Corrente-
Spanish Ministry of Economy and CompetitivenessPI13/01560; EXP00052887/ITC-20111037
ZonMW40-00812-98-10042
Nota: los datos sobre financiación provienen de la WOS
# Autor Afiliación
1Gui, HongshengThe University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
2Schriemer, DucoUniversity of Groningen, University Medical Center Groningen (Netherlands)
3Cheng, William W.Erasmus MC; The University of Hong Kong Li Ka Shing Faculty of Medicine (Netherlands)
4Chauhan, Rajendra K.Erasmus MC (Netherlands)
5Antiňolo, GuillermoHospital Universitario Virgen del Rocío; CIBER Enfermedades Raras (Spain)
6Berrios, CourtneyJohns Hopkins School of Medicine (United States)
7Bleda, MartaCIBER Enfermedades Raras; School of Clinical Medicine (United Kingdom)
8Brooks, Alice S.Erasmus MC (Netherlands)
9Brouwer, Rutger W.W.Erasmus MC (Netherlands)
10Burns, Alan J.Erasmus MC; UCL Great Ormond Street Institute of Child Health (United Kingdom)
11Cherny, Stacey S.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
12Dopazo, JoaquinHospital Universitario Virgen del Rocío; CIBER Enfermedades Raras (Spain)
13Eggen, Bart J.L.University of Groningen, University Medical Center Groningen (Netherlands)
14Griseri, PaolaIRCCS Istituto Giannina Gaslini - Ospedale Pediatrico (Italy)
15Jalloh, BintaEmory University (United States)
16Le, Thuy LinhUniversité de Paris; l'Institut des Maladies Génétiques Imagine (France)
17Lui, Vincent C.H.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
18Luzón-Toro, BertaHospital Universitario Virgen del Rocío; CIBER Enfermedades Raras (Spain)
19Matera, IvanaIRCCS Istituto Giannina Gaslini - Ospedale Pediatrico (Italy)
20Ngan, Elly S.W.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
21Pelet, AnnaUniversité de Paris; l'Institut des Maladies Génétiques Imagine (France)
22Ruiz-Ferrer, MacarenaHospital Universitario Virgen del Rocío; CIBER Enfermedades Raras (Spain)
23Sham, Pak C.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
24Shepherd, Iain T.Emory University (United States)
25So, Man TingThe University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
26Sribudiani, YuniaErasmus MC; Universitas Padjadjaran (Netherlands)
27Tang, Clara S.M.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
28van den Hout, Mirjam C.G.N.Erasmus MC (Netherlands)
29van der Linde, Herma C.Erasmus MC (Netherlands)
30van Ham, Tjakko J.Erasmus MC (Netherlands)
31van IJcken, Wilfred F.J.Erasmus MC (Netherlands)
32Verheij, Joke B.G.M.University of Groningen, University Medical Center Groningen (Netherlands)
33Amiel, JeanneUniversité de Paris; l'Institut des Maladies Génétiques Imagine (France)
34Borrego, SaludHospital Universitario Virgen del Rocío; CIBER Enfermedades Raras (Spain)
35Ceccherini, IsabellaIRCCS Istituto Giannina Gaslini - Ospedale Pediatrico (Italy)
36Chakravarti, AravindaJohns Hopkins School of Medicine (United States)
37Lyonnet, StanislasUniversité de Paris; l'Institut des Maladies Génétiques Imagine (France)
38Tam, Paul K.H.The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
39Garcia-Barceló, Maria Mercè The University of Hong Kong Li Ka Shing Faculty of Medicine (Hong Kong)
40Hofstra, Robert M.W. Erasmus MC; UCL Great Ormond Street Institute of Child Health (United Kingdom)