Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease.

Frontiers In Pediatrics

Zhong, Taowei T; Song, Xinli X; Liu, Yiping Y; Sun, Mengting M; Zhang, Senmao S; Chen, Letao L; Diao, Jingyi J; Li, Jinqi J; Li, Yihuan Y; Shu, Jing J; Wei, Jianhui J; Zhu, Ping P; Wang, Tingting T; Qin, Jiabi J

Publication Date: 2022

Variant appearance in text: rs2066470

PubMed Link: 36160803

Variant Present in the following documents:

• Main text
• fped-10-939119.pdf

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Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.

Bmc Cardiovascular Disorders

Sun, Mengting M; Wang, Tingting T; Huang, Peng P; Diao, Jingyi J; Zhang, Senmao S; Li, Jinqi J; Luo, Liu L; Li, Yihuan Y; Chen, Letao L; Liu, Yiping Y; Wei, Jianhui J; Song, Xinli X; Sheng, Xiaoqi X; Qin, Jiabi J

Publication Date: 2021-06-14

Variant appearance in text: rs2066470

PubMed Link: 34126931

Variant Present in the following documents:

• Main text
• 12872_2021_Article_2117.pdf

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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: MTHFR: P39P; rs2066470

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: rs2066470

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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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: MTHFR: P39P; rs2066470

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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A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports

Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D

Publication Date: 2019-12-27

Variant appearance in text: rs2066470

PubMed Link: 31882953

Variant Present in the following documents:

• Main text
• 41598_2019_56494_MOESM1_ESM.pdf
• 41598_2019_Article_56494.pdf

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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: MTHFR: Pro39=; rs2066470

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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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: MTHFR: P39P; rs2066470

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_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: rs2066470

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1
• AJMG-179-1260-s005.xlsx, sheet 1

View BVdb publication page

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Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.

Italian Journal Of Pediatrics

Cai, Chun-Quan CQ; Fang, Yu-Lian YL; Shu, Jian-Bo JB; Zhao, Lin-Sheng LS; Zhang, Rui-Ping RP; Cao, Li-Rong LR; Wang, Yi-Zheng YZ; Zhi, Xiu-Fang XF; Cui, Hua-Lei HL; Shi, Ou-Yan OY; Liu, Wei W

Publication Date: 2019-03-14

Variant appearance in text: rs2066470

PubMed Link: 30867013

Variant Present in the following documents:

• Main text
• 13052_2019_Article_630.pdf

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: MTHFR: P39P; rs2066470

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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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: MTHFR: P39P; rs2066470

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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Prioritizing individual genetic variants after kernel machine testing using variable selection.

Genetic Epidemiology

He, Qianchuan Q; Cai, Tianxi T; Liu, Yang Y; Zhao, Ni N; Harmon, Quaker E QE; Almli, Lynn M LM; Binder, Elisabeth B EB; Engel, Stephanie M SM; Ressler, Kerry J KJ; Conneely, Karen N KN; Lin, Xihong X; Wu, Michael C MC

Publication Date: 2016-12

Variant appearance in text: rs2066470

PubMed Link: 27488097

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications

Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O

Publication Date: 2015-08-10

Variant appearance in text: rs2066470

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2066470

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: MTHFR: P39P; rs2066470

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain.

Pain

Smith, Shad B SB; Reenilä, Ilkka I; Männistö, Pekka T PT; Slade, Gary D GD; Maixner, William W; Diatchenko, Luda L; Nackley, Andrea G AG

Publication Date: 2014-11

Variant appearance in text: rs2066470

PubMed Link: 25218601

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene polymorphisms in association with self-reported stroke in US adults.

The Application Of Clinical Genetics

Fan, Amy Z AZ; Fang, Jing J; Yesupriya, Ajay A; Chang, Man-Huei MH; Kilmer, Greta G; House, Meaghan M; Hayes, Donald D; Ned, Renée M RM; Dowling, Nicole F NF; Mokdad, Ali H AH

Publication Date: 2010

Variant appearance in text: rs2066470

PubMed Link: 23776350

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

Plos One

Spellicy, Catherine J CJ; Northrup, Hope H; Fletcher, Jack M JM; Cirino, Paul T PT; Dennis, Maureen M; Morrison, Alanna C AC; Martinez, Carla A CA; Au, Kit Sing KS

Publication Date: 2012

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 23227261

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association Study between Folate Pathway Gene Single Nucleotide Polymorphisms and Gastric Cancer in Koreans.

Genomics & Informatics

Yoo, Jae-Young JY; Kim, Sook-Young SY; Hwang, Jung-Ah JA; Hong, Seung-Hyun SH; Shin, Aesun A; Choi, Il Ju IJ; Lee, Yeon-Su YS

Publication Date: 2012-09

Variant appearance in text: rs2066470

PubMed Link: 23166529

Variant Present in the following documents:

• Main text
• gni-10-184.pdf

View BVdb publication page

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A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.

Molecular Vision

Awadalla, Mona S MS; Burdon, Kathryn P KP; Thapa, Suman S SS; Hewitt, Alex W AW; Craig, Jamie E JE

Publication Date: 2012

Variant appearance in text: rs2066470

PubMed Link: 22933837

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Genetic Diversity and Structure of Linkage Disequilibrium of the MTHFR Gene in Populations of Northern Eurasia.

Acta Naturae

Trifonova, E A EA; Eremina, E R ER; Urnov, F D FD; Stepanov, V A VA

Publication Date: 2012-01

Variant appearance in text: rs2066470

PubMed Link: 22708063

Variant Present in the following documents:

• Main text
• AN20758251-12-053.pdf

View BVdb publication page

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Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2012-02

Variant appearance in text: MTHFR: Pro39Pro; rs2066470

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs2066470

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

View BVdb publication page

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Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) project.

Circulation. Cardiovascular Genetics

Schnabel, Renate B RB; Kerr, Kathleen F KF; Lubitz, Steven A SA; Alkylbekova, Ermeg L EL; Marcus, Gregory M GM; Sinner, Moritz F MF; Magnani, Jared W JW; Wolf, Philip A PA; Deo, Rajat R; Lloyd-Jones, Donald M DM; Lunetta, Kathryn L KL; Mehra, Reena R; Levy, Daniel D; Fox, Ervin R ER; Arking, Dan E DE; Mosley, Thomas H TH; Müller-Nurasyid, Martina M; Young, Taylor R TR; Wichmann, H-Erich HE; Seshadri, Sudha S; Farlow, Deborah N DN; Rotter, Jerome I JI; Soliman, Elsayed Z EZ; Glazer, Nicole L NL; Wilson, James G JG; Breteler, Monique M B MM; Sotoodehnia, Nona N; Newton-Cheh, Christopher C; Kääb, Stefan S; Ellinor, Patrick T PT; Alonso, Alvaro A; Benjamin, Emelia J EJ; Heckbert, Susan R SR; ,

Publication Date: 2011-10

Variant appearance in text: rs2066470

PubMed Link: 21846873

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia.

Frontiers In Human Neuroscience

Yang, Honghui H; Liu, Jingyu J; Sui, Jing J; Pearlson, Godfrey G; Calhoun, Vince D VD

Publication Date: 2010

Variant appearance in text: rs2066470

PubMed Link: 21119772

Variant Present in the following documents:

• Main text
• fnhum-04-00192.pdf

View BVdb publication page

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Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.

Bmc Medical Genetics

Fan, Amy Z AZ; Yesupriya, Ajay A; Chang, Man-huei MH; House, Meaghan M; Fang, Jing J; Ned, Renée R; Hayes, Donald D; Dowling, Nicole F NF; Mokdad, Ali H AH

Publication Date: 2010-01-15

Variant appearance in text: rs2066470

PubMed Link: 20078877

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of human neural tube defects.

Human Molecular Genetics

Greene, Nicholas D E ND; Stanier, Philip P; Copp, Andrew J AJ

Publication Date: 2009-10-15

Variant appearance in text: N/A

PubMed Link: 19808787

Variant Present in the following documents:

View BVdb publication page

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Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

American Journal Of Obstetrics And Gynecology

Martinez, Carla A CA; Northrup, Hope H; Lin, Jone-Ing JI; Morrison, Alanna C AC; Fletcher, Jack M JM; Tyerman, Gayle H GH; Au, Kit Sing KS

Publication Date: 2009-10

Variant appearance in text: rs2066470

PubMed Link: 19683694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women.

Menopause (New York, N.Y.)

Liu, Pengyuan P; Lu, Yan Y; Recker, Robert R RR; Deng, Hong-Wen HW; Dvornyk, Volodymyr V

Publication Date: 2010

Variant appearance in text: rs2066470

PubMed Link: 19593234

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: rs2066470

PubMed Link: 19493349

Variant Present in the following documents:

• Main text

View BVdb publication page

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No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

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

Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE

Publication Date: 2008-12

Variant appearance in text: rs2066470

PubMed Link: 19064578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

American Journal Of Epidemiology

Chang, Man-Huei MH; Lindegren, Mary Lou ML; Butler, Mary A MA; Chanock, Stephen J SJ; Dowling, Nicole F NF; Gallagher, Margaret M; Moonesinghe, Ramal R; Moore, Cynthia A CA; Ned, Renée M RM; Reichler, Mary R MR; Sanders, Christopher L CL; Welch, Robert R; Yesupriya, Ajay A; Khoury, Muin J MJ; ,

Publication Date: 2009-01-01

Variant appearance in text: MTHFR: P39P; rs2066470

PubMed Link: 18936436

Variant Present in the following documents:

• Main text

View BVdb publication page

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A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.

Bmc Genomics

Hong, Sun Pyo SP; Ji, Seung Il SI; Rhee, Hwanseok H; Shin, Soo Kyeong SK; Hwang, Sun Young SY; Lee, Seung Hwan SH; Lee, Soong Deok SD; Oh, Heung-Bum HB; Yoo, Wangdon W; Kim, Soo-Ok SO

Publication Date: 2008-06-09

Variant appearance in text: rs2066470

PubMed Link: 18538037

Variant Present in the following documents:

• Main text
• 1471-2164-9-276.pdf

View BVdb publication page

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