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: rs45589033

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs45589033

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Bone metastases in an adult patient with diffuse midline glioma: a case report.

Neuro-Oncology Advances

Li, Shaoqun S; Lai, Mingyao M; Zhen, Junjie J; Deng, Guanhua G; Li, Hainan H; Cheng, Lina L; Liu, Xuchen X; Li, Juan J; Zhou, Jiangfen J; Hu, Qingjun Q; Ye, Minting M; Wen, Lei L; Zhou, Cheng C; Zhou, Zhaoming Z; Shan, Changguo C; Hong, Weiping W; Xiao, Xiao X; Wang, Hui H; Yang, Yanying Y; Ai, Ruyu R; Cai, Linbo L

Publication Date: 2021

Variant appearance in text: rs45589033

PubMed Link: 33543143

Variant Present in the following documents:

• vdaa156_suppl_supplementary_materials_1.xls, sheet 1

View BVdb publication page