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: A755T; rs201165084
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.
Oncology Letters
Li, Xiongfei X; Hou, Yuelong Y; Shi, Tao T; He, Yue Y; Ren, Dian D; Song, Zuoqing Z; Wei, Sen S; Chen, Gang G; Chen, Jun J; Xu, Song S
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: A755T; rs201165084
Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification.
Genome Biology
Ng, Charlotte K Y CK; Martelotto, Luciano G LG; Gauthier, Arnaud A; Wen, Huei-Chi HC; Piscuoglio, Salvatore S; Lim, Raymond S RS; Cowell, Catherine F CF; Wilkerson, Paul M PM; Wai, Patty P; Rodrigues, Daniel N DN; Arnould, Laurent L; Geyer, Felipe C FC; Bromberg, Silvio E SE; Lacroix-Triki, Magali M; Penault-Llorca, Frederique F; Giard, Sylvia S; Sastre-Garau, Xavier X; Natrajan, Rachael R; Norton, Larry L; Cottu, Paul H PH; Weigelt, Britta B; Vincent-Salomon, Anne A; Reis-Filho, Jorge S JS