Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: AMACR: 844G>C; Glu282Gln; rs181341030

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: AMACR: E282Q; rs181341030

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: AMACR: E282Q; rs181341030

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: AMACR: 844G>C; E282Q

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease

Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J

Publication Date: 2019-02-04

Variant appearance in text: AMACR: 844G>C; E282Q; rs181341030

PubMed Link: 30718471

Variant Present in the following documents:

• 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: AMACR: E282Q; rs181341030

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Hepatology (Baltimore, Md.)

Qiu, Yi-Ling YL; Gong, Jing-Yu JY; Feng, Jia-Yan JY; Wang, Ren-Xue RX; Han, Jun J; Liu, Teng T; Lu, Yi Y; Li, Li-Ting LT; Zhang, Mei-Hong MH; Sheps, Jonathan A JA; Wang, Neng-Li NL; Yan, Yan-Yan YY; Li, Jia-Qi JQ; Chen, Lian L; Borchers, Christoph H CH; Sipos, Bence B; Knisely, A S AS; Ling, Victor V; Xing, Qing-He QH; Wang, Jian-She JS

Publication Date: 2017-05

Variant appearance in text: AMACR: 844G>C; E282Q; rs181341030

PubMed Link: 28027573

Variant Present in the following documents:

• HEP-65-1655-s001.pdf

View BVdb publication page

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Nature Genetics

Calvo, Sarah E SE; Tucker, Elena J EJ; Compton, Alison G AG; Kirby, Denise M DM; Crawford, Gabriel G; Burtt, Noel P NP; Rivas, Manuel M; Guiducci, Candace C; Bruno, Damien L DL; Goldberger, Olga A OA; Redman, Michelle C MC; Wiltshire, Esko E; Wilson, Callum J CJ; Altshuler, David D; Gabriel, Stacey B SB; Daly, Mark J MJ; Thorburn, David R DR; Mootha, Vamsi K VK

Publication Date: 2010-10

Variant appearance in text: AMACR: 844G>C; E282Q

PubMed Link: 20818383

Variant Present in the following documents:

• NIHMS228290-supplement-2.xls, sheet 2
• NIHMS228290-supplement-2.xls, sheet 3

View BVdb publication page

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