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: 9370G>A; Glu3124Lys
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: KMT2D: E3124K; rs778308911
A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.
Scientific Reports
Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ
Publication Date: 2022-10-03
Variant appearance in text: KMT2D: 9370G>A; E3124K
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.
Biomedicines
Salomon-Perzyński, Aleksander A; Barankiewicz, Joanna J; Machnicki, Marcin M; Misiewicz-Krzemińska, Irena I; Pawlak, Michał M; Radomska, Sylwia S; Krzywdzińska, Agnieszka A; Bluszcz, Aleksandra A; Stawiński, Piotr P; Rydzanicz, Małgorzata M; Jakacka, Natalia N; Solarska, Iwona I; Borg, Katarzyna K; Spyra-Górny, Zofia Z; Szpila, Tomasz T; Puła, Bartosz B; Grosicki, Sebastian S; Stokłosa, Tomasz T; Płoski, Rafał R; Lech-Marańda, Ewa E; Jakubikova, Jana J; Jamroziak, Krzysztof K
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04
Variant appearance in text: KMT2D: Glu3124Lys; rs778308911