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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Year: 2018
Type: article
Study design: Observational Study
DOI: 10.1038/s41431-017-0053-7
Authors: João Fadista, Marie Lund, Line Skotte, Frank Geller, Priyanka Nandakumar, Sumantra Chatterjee, Hans Matsson, Anna Löf Granström, Tomas Wester, Perttu Salo, Valtter Virtanen, Lisbeth Carstensen, Jonas Bybjerg-Grauholm, David Michael Hougaard, Mikko Pakarinen, Markus Perola, Agneta Nordenskjöld, Aravinda Chakravarti, Mads Melbye, Bjarke Feenstra
Institutions: Statens Serum Institut, Johns Hopkins University, Karolinska Institutet, Karolinska University Hospital, Finnish Institute for Health and Welfare, University of Helsinki, Helsinki Children's Hospital, University of Copenhagen, Stanford Medicine, Stanford University
Language: English
Subfield: Surgery
Field: Medicine
Open Access status: bronze
Funders: Oak Foundation, Sundhed og Sygdom, Det Frie Forskningsråd, Novo Nordisk, Novo Nordisk Fonden, National Institutes of Health, Medical Research Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development
OpenAlex ID: W2791147808
FWCI: 3.82
Cites: 44
Cited by: 30
Related to: 10