Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 15671G>A; Arg5224His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KMT2D: 15671G>A; Arg5224His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.

Plos One

Laochareonsuk, Wison W; Surachat, Komwit K; Chiengkriwate, Piyawan P; Sangkhathat, Surasak S

Publication Date: 2022

Variant appearance in text: KMT2D: 15671G>A; Arg5224His; rs3782356

PubMed Link: 36350824

Variant Present in the following documents:

• Main text
• pone.0277334.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KMT2D: R5224H

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Annals Of Translational Medicine

Mou, Jiang-Tao JT; Huang, Shi-Xing SX; Yu, Li-Li LL; Xu, Jing J; Deng, Qiao-Ling QL; Xie, Yi-Shan YS; Deng, Kun K

Publication Date: 2022-05

Variant appearance in text: KMT2D: 15671G>A; R5224H

PubMed Link: 35722368

Variant Present in the following documents:

• Main text
• atm-10-10-603.pdf

View BVdb publication page

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Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: KMT2D: 15671G>A; Arg5224His

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg

Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF

Publication Date: 2021-08

Variant appearance in text: KMT2D: 15671G>A; Arg5224His; rs3782356

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer

Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S

Publication Date: 2021-02-15

Variant appearance in text: KMT2D: 15671G>A; Arg5224His; rs3782356

PubMed Link: 33588785

Variant Present in the following documents:

• 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports

Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL

Publication Date: 2021-01-12

Variant appearance in text: KMT2D: R5224H

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: KMT2D: 15671G>A; R5224H; rs3782356

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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CEOP/IVE/GDP alternating regimen compared with CEOP as the first-line therapy for newly diagnosed patients with peripheral T cell lymphoma: results from a phase 2, multicenter, randomized, controlled clinical trial.

Genome Medicine

Cai, Ming-Ci MC; Cheng, Shu S; Wang, Xin X; Hu, Jian-Da JD; Song, Yong-Ping YP; Huang, Yao-Hui YH; Yan, Zi-Xun ZX; Jiang, Yu-Jie YJ; Fang, Xiao-Sheng XS; Zheng, Xiao-Yun XY; Dong, Li-Hua LH; Ji, Meng-Meng MM; Wang, Li L; Xu, Peng-Peng PP; Zhao, Wei-Li WL

Publication Date: 2020-04-30

Variant appearance in text: KMT2D: R5224H

PubMed Link: 32349779

Variant Present in the following documents:

• 13073_2020_739_MOESM1_ESM.pdf

View BVdb publication page

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Integrative molecular characterization of Chinese prostate cancer specimens.

Asian Journal Of Andrology

Lv, Shi-Dong SD; Wang, Hong-Yi HY; Yu, Xin-Pei XP; Zhai, Qi-Liang QL; Wu, Yao-Bin YB; Wei, Qiang Q; Huang, Wen-Hua WH

Publication Date: 2020

Variant appearance in text: KMT2D: R5224H; rs3782356

PubMed Link: 31134918

Variant Present in the following documents:

• AJA-22-162.pdf
• AJA-22-162_Suppl1.pdf

View BVdb publication page

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Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.

Journal Of Pediatric Genetics

Sangkhathat, Surasak S; Laochareonsuk, Wison W; Maneechay, Wanwisa W; Kayasut, Kanita K; Chiengkriwate, Piyawan P

Publication Date: 2018-06

Variant appearance in text: rs3782356

PubMed Link: 29707407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.

Bmc Cancer

Valtcheva, Nadejda N; Lang, Franziska M FM; Noske, Aurelia A; Samartzis, Eleftherios P EP; Schmidt, Anna-Maria AM; Bellini, Elisa E; Fink, Daniel D; Moch, Holger H; Rechsteiner, Markus M; Dedes, Konstantin J KJ; Wild, Peter J PJ

Publication Date: 2017-01-19

Variant appearance in text: KMT2D: 15671G>A; Arg5224His; rs3782356

PubMed Link: 28103826

Variant Present in the following documents:

• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 1
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 2
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 3
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 6
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 5
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3782356

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: rs3782356

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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