Publications:

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: ATM: S601N; rs763402339

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry

Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF

Publication Date: 2022-09

Variant appearance in text: ATM: S601N

PubMed Link: 35863433

Variant Present in the following documents:

• mmc4.xlsx, sheet 6

View BVdb publication page

Insights into Immune Escape During Tumor Evolution and Response to Immunotherapy Using a Rat Model of Breast Cancer.

Cancer Immunology Research

Gil Del Alcazar, Carlos R CR; Trinh, Anne A; Alečković, Maša M; Rojas Jimenez, Ernesto E; Harper, Nicholas W NW; Oliphant, Michael U J MUJ; Xie, Shanshan S; Krop, Ethan D ED; Lulseged, Bethlehem B; Murphy, Katherine C KC; Keenan, Tanya E TE; Van Allen, Eliezer M EM; Tolaney, Sara M SM; Freeman, Gordon J GJ; Dillon, Deborah A DA; Muthuswamy, Senthil K SK; Polyak, Kornelia K

Publication Date: 2022-06-03

Variant appearance in text: ATM: S601N

PubMed Link: 35446942

Variant Present in the following documents:

• cir-21-0804_supplementary_table_s3_supps3.xlsx, sheet 2

View BVdb publication page

Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: ATM: S601N

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page