The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

作者：Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, A. James Barkovich, Yang Cao, Marina T. DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Lance H. Rodan, Mayher Patel, Lacey Smith, Sara Spencer, Christopher A. Walsh, Edward Yang, Christopher J. Yuskaitis, Timothy W. Yu, Timothy W. Yu, Annapurna Poduri, Annapurna Poduri, Christelle Achkar, James Barkovich, Yang Cao, Jamel Chelly, Marina T. DiStefano, Elizabeth C. Engle, Michael Evenson, Renzo Guerrini, William Hong, Hyunyong Koh, Devon Knight, Abbe Lai, Rhonda Lassiter, Yi-Shan Lee, Eric D. Marsh, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Rebecca Pinsky, Annapurna Poduri, Annapurna Poduri, Lance H. Rodan, Mayher Patel, Catherine Shain, Lacey Smith, Aubrie Soucy, Sara Spencer, Christopher A. Walsh, Edward Yang, Timothy W. Yu, Timothy W. Yu, Bo Yuan, Christopher J. Yuskaitis · 发表于：Genetics in Medicine · 年份：2022 · DOI：10.1016/j.gim.2022.07.020 · 被引用次数：35 · 研究领域：Genomics and Rare Diseases、Cancer Genomics and Diagnostics、Genetic Syndromes and Imprinting