Publications:

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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: ZNRD1: Q101Q

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization.

Nature Communications

Ong, Jue-Sheng JS; Dixon-Suen, Suzanne C SC; Han, Xikun X; An, Jiyuan J; , ; , ; Liyanage, Upekha U; Dusingize, Jean-Cluade JC; Schumacher, Johannes J; Gockel, Ines I; Böhmer, Anne A; Jankowski, Janusz J; Palles, Claire C; O'Mara, Tracy T; Spurdle, Amanda A; Law, Matthew H MH; Iles, Mark M MM; Pharoah, Paul P; Berchuck, Andrew A; Zheng, Wei W; Thrift, Aaron P AP; Olsen, Catherine C; Neale, Rachel E RE; Gharahkhani, Puya P; Webb, Penelope M PM; MacGregor, Stuart S

Publication Date: 2021-01-11

Variant appearance in text: rs10745

PubMed Link: 33431812

Variant Present in the following documents:

• 41467_2020_20368_MOESM1_ESM.pdf

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: ZNRD1: 303G>A; rs10745

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ZNRD1: Q101Q; rs10745

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs10745

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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: ZNRD1: Q101Q; rs10745

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Regulatory variation in HIV-1 dependency factor ZNRD1 associates with host resistance to HIV-1 acquisition.

The Journal Of Infectious Diseases

An, Ping P; Goedert, James J JJ; Donfield, Sharyne S; Buchbinder, Susan S; Kirk, Gregory D GD; Detels, Roger R; Winkler, Cheryl A CA

Publication Date: 2014-11-15

Variant appearance in text: ZNRD1: Q101Q; rs10745

PubMed Link: 24842830

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: ZNRD1: Q101Q

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: ZNRD1: Q101Q; rs10745

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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