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: CD4: R265W; rs28919570

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CD4: R265W; rs28919570

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: CD4: 793C>T; Arg265Trp

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: CD4: 793C>T; Arg265Trp; rs28919570

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Timed inhibition of CDC7 increases CRISPR-Cas9 mediated templated repair.

Nature Communications

Wienert, Beeke B; Nguyen, David N DN; Guenther, Alexis A; Feng, Sharon J SJ; Locke, Melissa N MN; Wyman, Stacia K SK; Shin, Jiyung J; Kazane, Katelynn R KR; Gregory, Georgia L GL; Carter, Matthew A M MAM; Wright, Francis F; Conklin, Bruce R BR; Marson, Alex A; Richardson, Chris D CD; Corn, Jacob E JE

Publication Date: 2020-04-30

Variant appearance in text: CD4: 793C>T; Arg265Trp; rs28919570

PubMed Link: 32355159

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15845.pdf
• 41467_2020_15845_MOESM4_ESM.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: CD4: 793C>T; Arg265Trp

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CD4: 793C>T; Arg265Trp; rs28919570

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM5_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CD4: R265W; rs28919570

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: rs28919570

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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HIV Diagnosis and Treatment through Advanced Technologies.

Frontiers In Public Health

Zulfiqar, Hafiza Fizzah HF; Javed, Aneeqa A; Sumbal, ; Afroze, Bakht B; Ali, Qurban Q; Akbar, Khadija K; Nadeem, Tariq T; Rana, Muhammad Adeel MA; Nazar, Zaheer Ahmad ZA; Nasir, Idrees Ahmad IA; Husnain, Tayyab T

Publication Date: 2017

Variant appearance in text: rs28919570

PubMed Link: 28326304

Variant Present in the following documents:

• Main text
• fpubh-05-00032.pdf

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: rs28919570

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CD4: R265W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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The CD4 C868T Polymorphism and Its Correlation with HIV-1 Infection in a Chinese Population.

Aids Research And Human Retroviruses

Lu, Yu Y; Wu, Junrong J; Qin, Xue X; Xie, Li L; Ma, Liping L; Huang, Xiuli X; Zhao, Jiangyang J; Liu, Yanqiong Y; Chen, Xuejie X; Li, Shan S

Publication Date: 2015-05

Variant appearance in text: rs28919570

PubMed Link: 25611551

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CD4: R265W; rs28919570

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs28919570

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs28919570

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Potential association of pulmonary tuberculosis with genetic polymorphisms of toll-like receptor 9 and interferon-gamma in a Chinese population.

Bmc Infectious Diseases

Yang, Yu Y; Li, Xiangwei X; Cui, Wei W; Guan, Ling L; Shen, Fei F; Xu, Jinsheng J; Zhou, Feng F; Li, Mufei M; Gao, Cong C; Jin, Qi Q; Liu, Jianmin J; Gao, Lei L

Publication Date: 2013-10-31

Variant appearance in text: rs28919570

PubMed Link: 24176007

Variant Present in the following documents:

• Main text
• 1471-2334-13-511.pdf
• 1471-2334-13-511-S2.pdf

View BVdb publication page

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The role of G protein gene GNB3 C825T polymorphism in HIV-1 acquisition, progression and immune activation.

Retrovirology

Juno, Jennifer J; Tuff, Jeffrey J; Choi, Robert R; Card, Catherine C; Kimani, Joshua J; Wachihi, Charles C; Koesters-Kiazyk, Sandra S; Ball, T Blake TB; Farquhar, Carey C; Plummer, Francis A FA; John-Stewart, Grace G; Luo, Ma M; Fowke, Keith R KR

Publication Date: 2012-01-03

Variant appearance in text: rs28919570

PubMed Link: 22214232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.

Plos One

Lingappa, Jairam R JR; Petrovski, Slavé S; Kahle, Erin E; Fellay, Jacques J; Shianna, Kevin K; McElrath, M Juliana MJ; Thomas, Katherine K KK; Baeten, Jared M JM; Celum, Connie C; Wald, Anna A; de Bruyn, Guy G; Mullins, James I JI; Nakku-Joloba, Edith E; Farquhar, Carey C; Essex, Max M; Donnell, Deborah D; Kiarie, James J; Haynes, Bart B; Goldstein, David D; ,

Publication Date: 2011

Variant appearance in text: rs28919570

PubMed Link: 22174851

Variant Present in the following documents:

View BVdb publication page

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C868T single nucleotide polymorphism and HIV type 1 disease progression among postpartum women in Kenya.

Aids Research And Human Retroviruses

Choi, Robert Y RY; Fowke, Keith R KR; Juno, Jennifer J; Lohman-Payne, Barbara B; Oyugi, Julius O JO; Brown, Elizabeth R ER; Bosire, Rose R; John-Stewart, Grace G; Farquhar, Carey C

Publication Date: 2012-06

Variant appearance in text: rs28919570

PubMed Link: 21902583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.

Aids (London, England)

Petrovski, Slavé S; Fellay, Jacques J; Shianna, Kevin V KV; Carpenetti, Nicole N; Kumwenda, Johnstone J; Kamanga, Gift G; Kamwendo, Deborah D DD; Letvin, Norman L NL; McMichael, Andrew J AJ; Haynes, Barton F BF; Cohen, Myron S MS; Goldstein, David B DB; ,

Publication Date: 2011-02-20

Variant appearance in text: rs28919570

PubMed Link: 21160409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Infant CD4 C868T polymorphism is associated with increased human immunodeficiency virus (HIV-1) acquisition.

Clinical And Experimental Immunology

Choi, R Y RY; Farquhar, C C; Juno, J J; Mbori-Ngacha, D D; Lohman-Payne, B B; Vouriot, F F; Wayne, S S; Tuff, J J; Bosire, R R; John-Stewart, G G; Fowke, K K

Publication Date: 2010-06

Variant appearance in text: rs28919570

PubMed Link: 20132229

Variant Present in the following documents:

• Main text

View BVdb publication page

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