Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 3773G>A; Arg1258Gln
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
Molecular Genetics & Genomic Medicine
de la Morena-Barrio, María Eugenia ME; Sabater, María M; de la Morena-Barrio, Belén B; Ruhaak, Renee L RL; Miñano, Antonia A; Padilla, José J; Toderici, Mara M; Roldán, Vanessa V; Gimeno, Juan R JR; Vicente, Vicente V; Corral, Javier J
Publication Date: 2020-08
Variant appearance in text: KMT2D: 3773G>A; Arg1258Gln
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Genome Medicine
Loviglio, Maria Nicla MN; Beck, Christine R CR; White, Janson J JJ; Leleu, Marion M; Harel, Tamar T; Guex, Nicolas N; Niknejad, Anne A; Bi, Weimin W; Chen, Edward S ES; Crespo, Isaac I; Yan, Jiong J; Charng, Wu-Lin WL; Gu, Shen S; Fang, Ping P; Coban-Akdemir, Zeynep Z; Shaw, Chad A CA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Rougemont, Jacques J; Xenarios, Ioannis I; Lupski, James R JR; Reymond, Alexandre A