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: TAT: R364Q; rs150886066

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.

Bmc Genomic Data

Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M

Publication Date: 2022-04-18

Variant appearance in text: TAT: R364Q; rs150886066

PubMed Link: 35436854

Variant Present in the following documents:

• 12863_2022_1041_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: TAT: 1091G>A; R364Q; rs150886066

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports

Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD

Publication Date: 2019-03-12

Variant appearance in text: TAT: R364Q; rs150886066

PubMed Link: 30862934

Variant Present in the following documents:

• 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell

Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML

Publication Date: 2017-08-24

Variant appearance in text: TAT: R364Q

PubMed Link: 28841418

Variant Present in the following documents:

• mmc4.xls, sheet 6

View BVdb publication page