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: rs916055

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: rs916055

PubMed Link: 36075891

Variant Present in the following documents:

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

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: rs916055

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs916055

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs916055

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs916055

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine

Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM

Publication Date: 2019-12

Variant appearance in text: rs916055

PubMed Link: 31637880

Variant Present in the following documents:

• Main text
• CAM4-8-7477.pdf

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: rs916055

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM11_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs916055

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs916055

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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: rs916055

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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MicroRNA polymorphisms and risk of colorectal cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Schmit, Stephanie L SL; Gollub, Jeremy J; Shapero, Michael H MH; Huang, Shu-Chen SC; Rennert, Hedy S HS; Finn, Andrea A; Rennert, Gad G; Gruber, Stephen B SB

Publication Date: 2015-01

Variant appearance in text: rs916055

PubMed Link: 25342389

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between ALOX, COX, and CRP polymorphisms and breast cancer among Hispanic and non-Hispanic white women: The breast cancer health disparities study.

Molecular Carcinogenesis

Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; Boone, Stephanie D SD; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML

Publication Date: 2015-12

Variant appearance in text: rs916055

PubMed Link: 25339205

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One

Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P

Publication Date: 2014

Variant appearance in text: rs916055

PubMed Link: 24465869

Variant Present in the following documents:

• Main text
• pone.0086061.pdf

View BVdb publication page

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Genetic variation in IL-16 miRNA target site and time to prostate cancer diagnosis in African-American men.

Prostate Cancer And Prostatic Diseases

Hughes, L L; Ruth, K K; Rebbeck, T R TR; Giri, V N VN

Publication Date: 2013-12

Variant appearance in text: rs916055

PubMed Link: 24061634

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Interaction between Pesticide Use and Genetic Variants Involved in Lipid Metabolism on Prostate Cancer Risk.

Journal Of Cancer Epidemiology

Andreotti, Gabriella G; Koutros, Stella S; Berndt, Sonja I SI; Hughes Barry, Kathryn K; Hou, Lifang L; Hoppin, Jane A JA; Sandler, Dale P DP; Lubin, Jay H JH; Burdette, Laurie A LA; Yuenger, Jeffrey J; Yeager, Meredith M; Beane Freeman, Laura E LE; Alavanja, Michael C R MC

Publication Date: 2012

Variant appearance in text: rs916055

PubMed Link: 22919386

Variant Present in the following documents:

• Main text
• JCE2012-358076.pdf

View BVdb publication page

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Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring.

Acta Pharmacologica Sinica

Ke, Yao-hua YH; Xiao, Wen-jin WJ; He, Jin-wei JW; Zhang, Hao H; Yu, Jin-bo JB; Hu, Wei-wei WW; Gu, Jie-mei JM; Gao, Gao G; Yue, Hua H; Wang, Chun C; Hu, Yun-qiu YQ; Li, Miao M; Liu, Yu-juan YJ; Fu, Wen-zhen WZ; Zhang, Zhen-lin ZL

Publication Date: 2012-02

Variant appearance in text: rs916055

PubMed Link: 22301860

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetic studies of gene identification for osteoporosis: the 2009 update.

Endocrine Reviews

Xu, Xiang-Hong XH; Dong, Shan-Shan SS; Guo, Yan Y; Yang, Tie-Lin TL; Lei, Shu-Feng SF; Papasian, Christopher J CJ; Zhao, Ming M; Deng, Hong-Wen HW

Publication Date: 2010-08

Variant appearance in text: rs916055

PubMed Link: 20357209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variation, residential proximity to traffic exposure, and left ventricular mass: the multi-ethnic study of atherosclerosis.

Environmental Health Perspectives

Van Hee, Victor C VC; Adar, Sara D SD; Szpiro, Adam A AA; Barr, R Graham RG; Diez Roux, Ana A; Bluemke, David A DA; Sheppard, Lianne L; Gill, Edward A EA; Bahrami, Hossein H; Wassel, Christina C; Sale, Michele M MM; Siscovick, David S DS; Rotter, Jerome I JI; Rich, Stephen S SS; Kaufman, Joel D JD

Publication Date: 2010-07

Variant appearance in text: rs916055

PubMed Link: 20308035

Variant Present in the following documents:

• ehp-118-962.pdf

View BVdb publication page

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Integrative predictive model of coronary artery calcification in atherosclerosis.

Circulation

McGeachie, Michael M; Ramoni, Rachel L Badovinac RL; Mychaleckyj, Josyf C JC; Furie, Karen L KL; Dreyfuss, Jonathan M JM; Liu, Yongmei Y; Herrington, David D; Guo, Xiuqing X; Lima, João A JA; Post, Wendy W; Rotter, Jerome I JI; Rich, Stephen S; Sale, Michèle M; Ramoni, Marco F MF

Publication Date: 2009-12-15

Variant appearance in text: rs916055

PubMed Link: 19948975

Variant Present in the following documents:

• Main text

View BVdb publication page

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