Rare Germline Heterozygous Missense Variants in BRCA1-associated Protein 1, BAP1, Cause a Syndromic Neurodevelopmental Disorder.

Sebastien Kury,Frederic Ebstein,Alice Molle,Thomas Besnard,Ming-Kang Lee,Virginie Vignard,Tiphaine Hery,Mathilde Nizon,Grazia M. S. Mancini,Jacques C. Giltay,Benjamin Cogne,Kirsty McWalter,Wallid Deb,Hagar Mor-Shaked,Hong Li,Rhonda E. Schnur,Ingrid M. Wentzensen,Anne-Sophie Denomme-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 C. E. Hurst,Kirstin Smith,Evan H. Baugh, Suzanne G. Bohm,Emilie Vyhnalkova,Lukas Ryba,Capucine Delnatte,Juanita Neira,Dominique Bonneau,Annick Toutain,Jill A. Rosenfeld,Severine Audebert-Bellanger,Brigitte Gilbert-Dussardier,Sylvie Odent,Frederic Laumonnier,Seth Berger,Ann C. M. Smith,Franck Bourdeaut,Marc-Henri Stern,Richard Redon,Elke Krueger,Raphael Margueron,Stephane Bezieau,Jeremie Poschmann,Bertrand Isidor

The American Journal of Human Genetics（2022）

引用 10|浏览76

关键词

BAP1,BRCA1,intellectual disability,ubiquitin,deubiquitination,ubiquitin-proteasome system,UPS,histone 2A,chromatin remodeling,neurodevelopment,cancer,tumor

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要