Litcius/Paper detail

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

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, Annapurna Poduri, Christelle Moufawad El 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, Lance H. Rodan, Mayher Patel, Catherine Shain, Lacey Smith, Aubrie Soucy, Sara Spencer, Christopher A. Walsh, Edward Yang, Timothy W. Yu, Bo Yuan, Christopher J. Yuskaitis, Timothy W. Yu, Timothy W. Yu, Bo Yuan, Christopher J. Yuskaitis

2022Genetics in Medicine35 citationsDOIOpen Access PDF

Topics & Concepts

Somatic cellMedicineNeuroscienceGeneticsBiologyComputational biologyBioinformaticsComputer scienceGeneGenomics and Rare DiseasesCancer Genomics and DiagnosticsGenetic Syndromes and Imprinting