Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: rs2241894

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2241894

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ADH1C: T151T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: ADH1C: T151T

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Associations of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Cognitive Impairment Among the Oldest-Old in China.

Frontiers In Aging Neuroscience

Jin, Xurui X; Long, Tingxi T; Chen, Huashuai H; Zeng, Yi Y; Zhang, Xian X; Yan, Lijing L; Wu, Chenkai C

Publication Date: 2021

Variant appearance in text: rs2241894

PubMed Link: 35368830

Variant Present in the following documents:

• Main text
• fnagi-13-710966.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Association Study of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Alzheimer Disease in the Taiwanese Population.

Frontiers In Neuroscience

Wu, Yah-Yuan YY; Lee, Yun-Shien YS; Liu, Yu-Li YL; Hsu, Wen-Chuin WC; Ho, Wei-Min WM; Huang, Yu-Hua YH; Tsai, Shih-Jen SJ; Kuo, Po-Hsiu PH; Chen, Yi-Chun YC

Publication Date: 2021

Variant appearance in text: ADH1C: 453A>T; rs2241894

PubMed Link: 33551739

Variant Present in the following documents:

• Main text
• fnins-15-625885.pdf

View BVdb publication page

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Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues.

Scientific Reports

Hibberd, Rebecca R; Golovina, Evgeniia E; Farrow, Sophie S; O'Sullivan, Justin M JM

Publication Date: 2020-06-18

Variant appearance in text: rs2241894

PubMed Link: 32555468

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66048.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2241894

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.

Scientific Reports

Huang, Yu-Hua YH; Chang, Kuo-Hsuan KH; Lee, Yun-Shien YS; Chen, Chiung-Mei CM; Chen, Yi-Chun YC

Publication Date: 2020-02-27

Variant appearance in text: rs2241894

PubMed Link: 32107439

Variant Present in the following documents:

• Main text
• 41598_2020_Article_60567.pdf

View BVdb publication page

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No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson's disease.

Neurobiology Of Aging

Kim, Jonggeol Jeffrey JJ; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; , ; Gan-Or, Ziv Z

Publication Date: 2020-03

Variant appearance in text: rs2241894

PubMed Link: 31806158

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2241894

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: rs2241894

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2241894

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs2241894

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Patterns of shared signatures of recent positive selection across human populations.

Nature Ecology & Evolution

Johnson, Kelsey Elizabeth KE; Voight, Benjamin F BF

Publication Date: 2018-04

Variant appearance in text: rs2241894

PubMed Link: 29459708

Variant Present in the following documents:

• Main text
• nihms934428.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2241894

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: N/A

PubMed Link: 28499365

Variant Present in the following documents:

View BVdb publication page

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The global spectrum of protein-coding pharmacogenomic diversity.

The Pharmacogenomics Journal

Wright, G E B GEB; Carleton, B B; Hayden, M R MR; Ross, C J D CJD

Publication Date: 2018-01

Variant appearance in text: rs2241894

PubMed Link: 27779249

Variant Present in the following documents:

• Main text
• tpj201677a.pdf

View BVdb publication page

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Overview of the Genetics of Alcohol Use Disorder.

Alcohol And Alcoholism (Oxford, Oxfordshire)

Tawa, Elisabeth A EA; Hall, Samuel D SD; Lohoff, Falk W FW

Publication Date: 2016-09

Variant appearance in text: ADH1C: Thr151Thr

PubMed Link: 27445363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs2241894

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

Molecular Psychiatry

Gelernter, J J; Kranzler, H R HR; Sherva, R R; Almasy, L L; Koesterer, R R; Smith, A H AH; Anton, R R; Preuss, U W UW; Ridinger, M M; Rujescu, D D; Wodarz, N N; Zill, P P; Zhao, H H; Farrer, L A LA

Publication Date: 2014-01

Variant appearance in text: N/A

PubMed Link: 24166409

Variant Present in the following documents:

View BVdb publication page

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Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.

Alcoholism, Clinical And Experimental Research

Sherva, Richard R; Rice, John P JP; Neuman, Rosalind J RJ; Rochberg, Nanette N; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2009-05

Variant appearance in text: rs2241894

PubMed Link: 19298322

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bladder cancer SNP panel predicts susceptibility and survival.

Human Genetics

Andrew, Angeline S AS; Gui, Jiang J; Sanderson, Arthur C AC; Mason, Rebecca A RA; Morlock, Elaine V EV; Schned, Alan R AR; Kelsey, Karl T KT; Marsit, Carmen J CJ; Moore, Jason H JH; Karagas, Margaret R MR

Publication Date: 2009-06

Variant appearance in text: rs2241894

PubMed Link: 19252927

Variant Present in the following documents:

• Main text

View BVdb publication page

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ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.

Human Molecular Genetics

Birley, Andrew J AJ; James, Michael R MR; Dickson, Peter A PA; Montgomery, Grant W GW; Heath, Andrew C AC; Martin, Nicholas G NG; Whitfield, John B JB

Publication Date: 2009-04-15

Variant appearance in text: rs2241894

PubMed Link: 19193628

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evidence of positive selection on a class I ADH locus.

American Journal Of Human Genetics

Han, Yi Y; Gu, Sheng S; Oota, Hiroki H; Osier, Michael V MV; Pakstis, Andrew J AJ; Speed, William C WC; Kidd, Judith R JR; Kidd, Kenneth K KK

Publication Date: 2007-03

Variant appearance in text: rs2241894

PubMed Link: 17273965

Variant Present in the following documents:

• Main text

View BVdb publication page

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