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: HIVEP2: T2007M; rs377164631

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: HIVEP2: 6020C>T; T2007M

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: HIVEP2: T2007M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Nature Genetics

Brastianos, Priscilla K PK; Taylor-Weiner, Amaro A; Manley, Peter E PE; Jones, Robert T RT; Dias-Santagata, Dora D; Thorner, Aaron R AR; Lawrence, Michael S MS; Rodriguez, Fausto J FJ; Bernardo, Lindsay A LA; Schubert, Laura L; Sunkavalli, Ashwini A; Shillingford, Nick N; Calicchio, Monica L ML; Lidov, Hart G W HG; Taha, Hala H; Martinez-Lage, Maria M; Santi, Mariarita M; Storm, Phillip B PB; Lee, John Y K JY; Palmer, James N JN; Adappa, Nithin D ND; Scott, R Michael RM; Dunn, Ian F IF; Laws, Edward R ER; Stewart, Chip C; Ligon, Keith L KL; Hoang, Mai P MP; Van Hummelen, Paul P; Hahn, William C WC; Louis, David N DN; Resnick, Adam C AC; Kieran, Mark W MW; Getz, Gad G; Santagata, Sandro S

Publication Date: 2014-02

Variant appearance in text: HIVEP2: 6020C>T; T2007M

PubMed Link: 24413733

Variant Present in the following documents:

• NIHMS547859-supplement-1.xlsx, sheet 3

View BVdb publication page