Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

por Julie E. Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra Klauer King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga-Jauregui
Publicado 2021

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

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

por Walter H. A. Kahr, Fred G. Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W. Lo, Ling Li, Ren Li, Qi Li, Cornelia Thoeni, Jie Pan, Gabriella Leung, Irene Lara-Corrales, Ryan Murchie, Ernest Cutz, Ronald M. Laxer, Julia Upton, Chaim M. Roifman, Rae S. M. Yeung, John H Brumell, Aleixo M Muise
Publicado 2017

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