Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease ge...
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
About this item
Full title
Author / Creator
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 and Hofstra, Robert M. W.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the cur...
Alternative Titles
Full title
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5343413
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5343413
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-017-1174-6
