Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1650697

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic map of regional sulcal morphology in the human brain from UK biobank data.

Nature Communications

Sun, Benjamin B BB; Loomis, Stephanie J SJ; Pizzagalli, Fabrizio F; Shatokhina, Natalia N; Painter, Jodie N JN; Foley, Christopher N CN; , ; Jensen, Megan E ME; McLaren, Donald G DG; Chintapalli, Sai Spandana SS; Zhu, Alyssa H AH; Dixon, Daniel D; Islam, Tasfiya T; Ba Gari, Iyad I; Runz, Heiko H; Medland, Sarah E SE; Thompson, Paul M PM; Jahanshad, Neda N; Whelan, Christopher D CD

Publication Date: 2022-10-14

Variant appearance in text: rs1650697

PubMed Link: 36241887

Variant Present in the following documents:

• 41467_2022_Article_33829.pdf

View BVdb publication page

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Patients With IBD Receiving Methotrexate Are at Higher Risk of Liver Injury Compared With Patients With Non-IBD Diseases: A Meta-Analysis and Systematic Review.

Frontiers In Medicine

Wang, Yang Y; Li, Yimin Y; Liu, Yun Y; Zhang, Yifan Y; Ke, Ziliang Z; Zhang, Yu Y; Liu, Yulan Y

Publication Date: 2021

Variant appearance in text: rs1650697

PubMed Link: 34881269

Variant Present in the following documents:

• Main text
• fmed-08-774824.pdf

View BVdb publication page

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The Genetic Contribution to Drug Response in Spondyloarthritis: A Systematic Literature Review.

Frontiers In Genetics

Ortolan, Augusta A; Cozzi, Giacomo G; Lorenzin, Mariagrazia M; Galozzi, Paola P; Doria, Andrea A; Ramonda, Roberta R

Publication Date: 2021

Variant appearance in text: rs1650697

PubMed Link: 34354741

Variant Present in the following documents:

• Main text
• fgene-12-703911.pdf

View BVdb publication page

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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.

Nature Communications

Laabs, Björn-Hergen BH; Klein, Christine C; Pozojevic, Jelena J; Domingo, Aloysius A; Brüggemann, Norbert N; Grütz, Karen K; Rosales, Raymond L RL; Jamora, Roland Dominic RD; Saranza, Gerard G; Diesta, Cid Czarina E CCE; Wittig, Michael M; Schaake, Susen S; Dulovic-Mahlow, Marija M; Quismundo, Jana J; Otto, Pia P; Acuna, Patrick P; Go, Criscely C; Sharma, Nutan N; Multhaupt-Buell, Trisha T; Müller, Ulrich U; Hanssen, Henrike H; Kilpert, Fabian F; Franke, Andre A; Rolfs, Arndt A; Bauer, Peter P; Dobričić, Valerija V; Lohmann, Katja K; Ozelius, Laurie J LJ; Kaiser, Frank J FJ; König, Inke R IR; Westenberger, Ana A

Publication Date: 2021-05-28

Variant appearance in text: rs1650697

PubMed Link: 34050153

Variant Present in the following documents:

• 41467_2021_23491_MOESM2_ESM.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1650697

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs1650697

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs1650697

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Recent Advances in Arsenic Research: Significance of Differential Susceptibility and Sustainable Strategies for Mitigation.

Frontiers In Public Health

Sanyal, Tamalika T; Bhattacharjee, Pritha P; Paul, Somnath S; Bhattacharjee, Pritha P

Publication Date: 2020

Variant appearance in text: rs1650697

PubMed Link: 33134234

Variant Present in the following documents:

• Table_2.pdf

View BVdb publication page

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DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences

Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P

Publication Date: 2020-08-03

Variant appearance in text: rs1650697

PubMed Link: 32756484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1650697

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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: rs1650697

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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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs1650697

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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: rs1650697

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: rs1650697

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.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: rs1650697

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: rs1650697

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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Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Scientific Reports

Qiu, Qi Q; Huang, Jing J; Shu, Xiaoming X; Fan, Huizheng H; Zhou, Youwen Y; Xiao, Cheng C

Publication Date: 2017-03-07

Variant appearance in text: rs1650697

PubMed Link: 28266606

Variant Present in the following documents:

• Main text
• srep44015.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: rs1650697

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh.

Cancer

Seow, Wei Jie WJ; Pan, Wen-Chi WC; Kile, Molly L ML; Tong, Lin L; Baccarelli, Andrea A AA; Quamruzzaman, Quazi Q; Rahman, Mahmuder M; Mostofa, Golam G; Rakibuz-Zaman, Muhammad M; Kibriya, Muhammad M; Ahsan, Habibul H; Lin, Xihong X; Christiani, David C DC

Publication Date: 2015-07-01

Variant appearance in text: rs1650697

PubMed Link: 25759212

Variant Present in the following documents:

• Main text

View BVdb publication page

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs1650697

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One

Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR

Publication Date: 2014

Variant appearance in text: rs1650697

PubMed Link: 24846176

Variant Present in the following documents:

• Main text
• pone.0097380.pdf

View BVdb publication page

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Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.

Clinical Lung Cancer

Kelsey, Chris R CR; Jackson, Isabel L IL; Langdon, Scott S; Owzar, Kouros K; Hubbs, Jessica J; Vujaskovic, Zeljko Z; Das, Shiva S; Marks, Lawrence B LB

Publication Date: 2013-05

Variant appearance in text: rs1650697

PubMed Link: 23313170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.

American Journal Of Medical Genetics. Part A

Zhu, Huiping H; Yang, Wei W; Lu, Wei W; Etheredge, Analee J AJ; Lammer, Edward J EJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Shaw, Gary M GM

Publication Date: 2012-05

Variant appearance in text: rs1650697

PubMed Link: 22495907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients.

The Pharmacogenomics Journal

Owen, S A SA; Hider, S L SL; Martin, P P; Bruce, I N IN; Barton, A A; Thomson, W W

Publication Date: 2013-06

Variant appearance in text: rs1650697

PubMed Link: 22450926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dihydrofolate reductase gene variations in susceptibility to disease and treatment outcomes.

Current Genomics

Askari, Bahram S BS; Krajinovic, Maja M

Publication Date: 2010-12

Variant appearance in text: rs1650697

PubMed Link: 21629435

Variant Present in the following documents:

• Main text
• CG-11-578.pdf

View BVdb publication page

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PharmGKB summary: methotrexate pathway.

Pharmacogenetics And Genomics

Mikkelsen, Torben S TS; Thorn, Caroline F CF; Yang, Jun J JJ; Ulrich, Cornelia M CM; French, Deborah D; Zaza, Gianluigi G; Dunnenberger, Henry M HM; Marsh, Sharon S; McLeod, Howard L HL; Giacomini, Kathy K; Becker, Mara L ML; Gaedigk, Roger R; Leeder, James Steven JS; Kager, Leo L; Relling, Mary V MV; Evans, William W; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2011-10

Variant appearance in text: rs1650697

PubMed Link: 21317831

Variant Present in the following documents:

• Main text

View BVdb publication page

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118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

Bmc Medical Genetics

Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH

Publication Date: 2009-06-03

Variant appearance in text: rs1650697

PubMed Link: 19493349

Variant Present in the following documents:

• Main text
• 1471-2350-10-49.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1650697

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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