Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

por Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B. Snapper, Thomas D. Walters, Alberta Leon, Anne M. Griffiths, Mara Cananzi, Aleixo M. Muise
Publicado 2021

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

por Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Mohammad Karaminejadranjbar, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Publicado 2020