Litcius/Paper detail

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Héry, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor‐Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne‐Sophie Denommé‐Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert‐Bellanger, Brigitte Gilbert‐Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth Berger, Ann C. M. Smith, Franck Bourdeaut, Marc‐Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bezieau, Jérémie Poschmann, Bertrand Isidor

2022The American Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationDeubiquitinating enzymeGermlineGermline mutationBiologyBAP1Ubiquitin ligaseGeneticsUbiquitinHistoneChromatinCancer researchChromatin remodelingLoss functionGeneMutationPhenotypeGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysChromatin Remodeling and Cancer