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: 15673C>T; Arg5225Cys
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Reuter, Miriam S MS; Chaturvedi, Rajiv R RR; Liston, Eriskay E; Manshaei, Roozbeh R; Aul, Ritu B RB; Bowdin, Sarah S; Cohn, Iris I; Curtis, Meredith M; Dhir, Priya P; Hayeems, Robin Z RZ; Hosseini, S Mohsen SM; Khan, Reem R; Ly, Linh G LG; Marshall, Christian R CR; Mertens, Luc L; Okello, John B A JBA; Pereira, Sergio L SL; Raajkumar, Akshaya A; Seed, Mike M; Thiruvahindrapuram, Bhooma B; Scherer, Stephen W SW; Kim, Raymond H RH; Jobling, Rebekah K RK
Publication Date: 2020-06
Variant appearance in text: KMT2D: 15673C>T; Arg5225Cys
Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.
Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ