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: rs1051690

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs1051690

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

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SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.

Frontiers In Genetics

Chhichholiya, Yogita Y; Suryan, Aman Kumar AK; Suman, Prabhat P; Munshi, Anjana A; Singh, Sandeep S

Publication Date: 2021

Variant appearance in text: rs1051690

PubMed Link: 34925466

Variant Present in the following documents:

• Main text
• fgene-12-793523.pdf

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: rs1051690

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The rs7911488-T allele promotes the growth and metastasis of colorectal cancer through modulating miR-1307/PRRX1.

Cell Death & Disease

Yang, Man M; Liu, Xinchang X; Meng, Fanyi F; Zhang, Yawen Y; Wang, Mengmeng M; Chen, Yinshuang Y; Guo, Xuqin X; Chen, Weichang W; Wang, Weipeng W

Publication Date: 2020-08-07

Variant appearance in text: rs1051690

PubMed Link: 32811812

Variant Present in the following documents:

• Main text
• 41419_2020_Article_2834.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: rs1051690

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Role of microRNAs in the predisposition to gastrointestinal malignancies.

World Journal Of Clinical Cases

Baz, Maria M; Ibrahim, Tony T

Publication Date: 2020-05-06

Variant appearance in text: rs1051690

PubMed Link: 32420299

Variant Present in the following documents:

• Main text

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: rs1051690

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_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: rs1051690

PubMed Link: 31637880

Variant Present in the following documents:

• Main text
• CAM4-8-7477.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1051690

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_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: rs1051690

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.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: rs1051690

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

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: rs1051690

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.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: rs1051690

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Polymorphisms of microRNA target genes IL12B, INSR, CCND1 and IL10 in gastric cancer.

World Journal Of Gastroenterology

Petkevicius, Vytenis V; Salteniene, Violeta V; Juzenas, Simonas S; Wex, Thomas T; Link, Alexander A; Leja, Marcis M; Steponaitiene, Ruta R; Skieceviciene, Jurgita J; Kupcinskas, Limas L; Jonaitis, Laimas L; Kiudelis, Gediminas G; Malfertheiner, Peter P; Kupcinskas, Juozas J

Publication Date: 2017-05-21

Variant appearance in text: rs1051690

PubMed Link: 28596683

Variant Present in the following documents:

• Main text
• WJG-23-3480.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs1051690

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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: rs1051690

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The screening of the functional microRNA binding site SNPs in sporadic colorectal cancer genes.

Cancer Biology & Therapy

He, Hongjuan H; Lei, Lei L; Chen, Erfei E; Xu, Xiaona X; Wang, Lili L; Pan, Junqiang J; Yang, Fangfang F; Wang, Min M; Dong, Jing J; Yang, Jin J

Publication Date: 2017-06-03

Variant appearance in text: rs1051690

PubMed Link: 28494187

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNPs in microRNA target sites and their potential role in human disease.

Open Biology

Moszyńska, Adrianna A; Gebert, Magdalena M; Collawn, James F JF; Bartoszewski, Rafał R

Publication Date: 2017-04

Variant appearance in text: rs1051690

PubMed Link: 28381629

Variant Present in the following documents:

• Main text
• rsob-7-170019.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1051690

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: rs1051690

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

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: rs1051690

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: rs1051690

PubMed Link: 25342389

Variant Present in the following documents:

• Main text

View BVdb publication page

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MicroRNA binding site polymorphisms as biomarkers in cancer management and research.

Pharmacogenomics And Personalized Medicine

Cipollini, Monica M; Landi, Stefano S; Gemignani, Federica F

Publication Date: 2014

Variant appearance in text: rs1051690

PubMed Link: 25114582

Variant Present in the following documents:

• Main text
• pgpm-7-173.pdf

View BVdb publication page

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Racial differences in the association of insulin-like growth factor pathway and colorectal adenoma risk.

Cancer Causes & Control : Ccc

Ochs-Balcom, Heather M HM; Vaughn, Caila B CB; Nie, Jing J; Chen, Zhengyi Z; Thompson, Cheryl L CL; Parekh, Niyati N; Tracy, Russell R; Li, Li L

Publication Date: 2014-02

Variant appearance in text: rs1051690

PubMed Link: 24194259

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNPs in microRNA binding sites as prognostic and predictive cancer biomarkers.

Critical Reviews In Oncogenesis

Preskill, Carina C; Weidhaas, Joanne B JB

Publication Date: 2013

Variant appearance in text: rs1051690

PubMed Link: 23614619

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of microRNAs in cancer susceptibility.

Biomed Research International

Iuliano, Rodolfo R; Vismara, Marco Flavio Michele MF; Dattilo, Vincenzo V; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N

Publication Date: 2013

Variant appearance in text: rs1051690

PubMed Link: 23586049

Variant Present in the following documents:

• Main text
• BMRI2013-591931.pdf

View BVdb publication page

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Prognostic significance of microRNA gene polymorphisms in patients with surgically resected colorectal cancer.

Experimental And Therapeutic Medicine

Jang, Moon Ju MJ; Kim, Jong Woo JW; Min, Kyung Tae KT; Jeon, Young Joo YJ; Oh, Doyeun D; Kim, Nam Keun NK

Publication Date: 2011-11

Variant appearance in text: rs1051690

PubMed Link: 22977632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms and role of microRNA deregulation in cancer onset and progression.

Genetics And Molecular Biology

Palmero, Edenir Inês EI; de Campos, Silvana Gisele P SG; Campos, Marcelo M; de Souza, Naiara C Nogueira NC; Guerreiro, Ismael Dale C ID; Carvalho, Andre L AL; Marques, Marcia Maria C MM

Publication Date: 2011-07

Variant appearance in text: rs1051690

PubMed Link: 21931505

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms and microRNAs: new direction in molecular epidemiology of solid cancer.

Journal Of Cellular And Molecular Medicine

Slaby, Ondrej O; Bienertova-Vasku, Julie J; Svoboda, Marek M; Vyzula, Rostislav R

Publication Date: 2012-01

Variant appearance in text: rs1051690

PubMed Link: 21692980

Variant Present in the following documents:

• Main text
• jcmm0016-0008.pdf

View BVdb publication page

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Type 2 diabetes risk variants and colorectal cancer risk: the Multiethnic Cohort and PAGE studies.

Gut

Cheng, Iona I; Caberto, Christian P CP; Lum-Jones, Annette A; Seifried, Ann A; Wilkens, Lynne R LR; Schumacher, Fredrick R FR; Monroe, Kristine R KR; Lim, Unhee U; Tiirikainen, Maarit M; Kolonel, Laurence N LN; Henderson, Brian E BE; Stram, Daniel O DO; Haiman, Christopher A CA; Le Marchand, Loïc L

Publication Date: 2011-12

Variant appearance in text: rs1051690

PubMed Link: 21602532

Variant Present in the following documents:

• Main text

View BVdb publication page

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MicroRNA dysregulation in colorectal cancer: a clinical perspective.

British Journal Of Cancer

Dong, Y Y; Wu, W K K WK; Wu, C W CW; Sung, J J Y JJ; Yu, J J; Ng, S S M SS

Publication Date: 2011-03-15

Variant appearance in text: rs1051690

PubMed Link: 21364594

Variant Present in the following documents:

• Main text
• bjc201157a.pdf

View BVdb publication page

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MicroRNA binding site polymorphisms as biomarkers of cancer risk.

Expert Review Of Molecular Diagnostics

Pelletier, Cory C; Weidhaas, Joanne B JB

Publication Date: 2010-09

Variant appearance in text: rs1051690

PubMed Link: 20843204

Variant Present in the following documents:

• Main text

View BVdb publication page

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MicroRNAs: tools for cancer diagnostics.

Gut

Paranjape, T T; Slack, F J FJ; Weidhaas, J B JB

Publication Date: 2009-11

Variant appearance in text: rs1051690

PubMed Link: 19834118

Variant Present in the following documents:

• Main text

View BVdb publication page

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An ensemble learning approach jointly modeling main and interaction effects in genetic association studies.

Genetic Epidemiology

Zhang, Zhaogong Z; Zhang, Shuanglin S; Wong, Man-Yu MY; Wareham, Nicholas J NJ; Sha, Qiuying Q

Publication Date: 2008-05

Variant appearance in text: rs1051690

PubMed Link: 18205210

Variant Present in the following documents:

• Main text

View BVdb publication page

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