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: KIT: M618I; rs199787524
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Breast Cancer Research : Bcr
Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2021-01-06
Variant appearance in text: KIT: M618I; rs199787524
Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.
Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
ARID1B alterations identify aggressive tumors in neuroblastoma.
Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11
Variant appearance in text: KIT: M618I; rs199787524
Werner syndrome through the lens of tissue and tumour genomics.
Scientific Reports
Tokita, Mari M; Kennedy, Scott R SR; Risques, Rosa Ana RA; Chun, Stephen G SG; Pritchard, Colin C; Oshima, Junko J; Liu, Yan Y; Bryant-Greenwood, Peter K PK; Welcsh, Piri P; Monnat, Raymond J RJ