Publications:

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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: rs3737965

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Perspectives on urological care in spina bifida patients.

Intractable & Rare Diseases Research

Moussa, Mohamad M; Papatsoris, Athanasios G AG; Chakra, Mohamad Abou MA; Fares, Youssef Y; Dabboucy, Baraa B; Dellis, Athanasios A

Publication Date: 2021-02

Variant appearance in text: rs3737965

PubMed Link: 33614369

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effectiveness of community-based folate-oriented tertiary interventions on incidence of fetus and birth defects: a protocol for a single-blind cluster randomized controlled trial.

Bmc Pregnancy And Childbirth

Li, Mengru M; Zhang, Yi Y; Chen, Xiaotian X; Wang, Dingmei D; Ji, Mi M; Jiang, Yuan Y; Dou, Yalan Y; Ma, Xiaojing X; Sheng, Wei W; Yan, Weili W; Huang, Guoying G

Publication Date: 2020-08-20

Variant appearance in text: rs3737965

PubMed Link: 32819312

Variant Present in the following documents:

• Main text
• 12884_2020_Article_3154.pdf

View BVdb publication page

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Closing in on Mechanisms of Open Neural Tube Defects.

Trends In Neurosciences

Lee, Sangmoon S; Gleeson, Joseph G JG

Publication Date: 2020-07

Variant appearance in text: rs3737965

PubMed Link: 32423763

Variant Present in the following documents:

• Main text

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: CLCN6: 87+45G>A; rs3737965

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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Shanghai Preconception Cohort (SPCC) for the association of periconceptional parental key nutritional factors with health outcomes of children with congenital heart disease: a cohort profile.

Bmj Open

Wang, Dingmei D; Zhang, Yi Y; Jiang, Yuang Y; Ye, Ying Y; Ji, Mi M; Dou, Yalan Y; Chen, Xiaotian X; Li, Mengru M; Ma, Xiaojing X; Sheng, Wei W; Huang, Guoying G; Yan, Weili W; ,

Publication Date: 2019-11-24

Variant appearance in text: rs3737965

PubMed Link: 31767586

Variant Present in the following documents:

• bmjopen-2019-031076.draft_revisions.pdf

View BVdb publication page

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The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population.

The American Journal Of Clinical Nutrition

Shane, Barry B; Pangilinan, Faith F; Mills, James L JL; Fan, Ruzong R; Gong, Tingting T; Cropp, Cheryl D CD; Kim, Yoonhee Y; Ueland, Per M PM; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Brody, Lawrence C LC; Molloy, Anne M AM

Publication Date: 2018-12-01

Variant appearance in text: rs3737965

PubMed Link: 30339177

Variant Present in the following documents:

• Main text

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: rs3737965

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs3737965

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-6.xlsx, sheet 1

View BVdb publication page

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Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

American Journal Of Medical Genetics. Part A

Au, Kit Sing KS; Findley, Tina O TO; Northrup, Hope H

Publication Date: 2017-11

Variant appearance in text: rs3737965

PubMed Link: 28944587

Variant Present in the following documents:

• Main text

View BVdb publication page

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The rs3737964 single-nucleotide polymorphism of the chloride channel-6 gene as a risk factor for coronary heart disease.

Molecular Genetics & Genomic Medicine

Zhang, Li L; Zhang, Tao T; Xiang, Zhengkai Z; Lu, Shengqiang S

Publication Date: 2015-11

Variant appearance in text: rs3737965

PubMed Link: 26740945

Variant Present in the following documents:

• Main text
• MGG3-3-537.pdf

View BVdb publication page

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Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives

Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y

Publication Date: 2015-05

Variant appearance in text: rs3737965

PubMed Link: 25575156

Variant Present in the following documents:

• ehp.1307883.s001.508.pdf

View BVdb publication page

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Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites.

Circulation. Cardiovascular Genetics

Pereira, Naveen L NL; Tosakulwong, Nirubol N; Scott, Christopher G CG; Jenkins, Gregory D GD; Prodduturi, Naresh N; Chai, Yubo Y; Olson, Timothy M TM; Rodeheffer, Richard J RJ; Redfield, Margaret M MM; Weinshilboum, Richard M RM; Burnett, John C JC

Publication Date: 2015-02

Variant appearance in text: rs3737965

PubMed Link: 25452597

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.

Biomed Research International

Liang, Shuang S; Zhou, Yuanpeng Y; Wang, Huijun H; Qian, Yanyan Y; Ma, Duan D; Tian, Weidong W; Persaud-Sharma, Vishwani V; Yu, Chen C; Ren, Yunyun Y; Zhou, Shufeng S; Li, Xiaotian X

Publication Date: 2014

Variant appearance in text: rs3737965

PubMed Link: 24524080

Variant Present in the following documents:

• Main text

View BVdb publication page

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One-carbon metabolism pathway gene variants and risk of clear cell renal cell carcinoma in a Chinese population.

Plos One

Zhang, Lei L; Meng, Xiaoxin X; Ju, Xiaobing X; Cai, Hongzhou H; Li, Pu P; Cao, Qiang Q; Shao, Pengfei P; Qin, Chao C; Yin, Changjun C

Publication Date: 2013

Variant appearance in text: rs3737965

PubMed Link: 24278388

Variant Present in the following documents:

• Main text
• pone.0081129.pdf

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: rs3737965

PubMed Link: 23227261

Variant Present in the following documents:

• Main text
• pone.0051330.pdf

View BVdb publication page

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Genetic variant of AMD1 is associated with obesity in urban Indian children.

Plos One

Tabassum, Rubina R; Jaiswal, Alok A; Chauhan, Ganesh G; Dwivedi, Om Prakash OP; Ghosh, Saurabh S; Marwaha, Raman K RK; Tandon, Nikhil N; Bharadwaj, Dwaipayan D

Publication Date: 2012

Variant appearance in text: rs3737965

PubMed Link: 22496743

Variant Present in the following documents:

• Main text

View BVdb publication page

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UASIS: Universal Automatic SNP Identification System.

Bmc Genomics

Poo, Danny C C DC; Cai, Shaojiang S; Mah, James T L JT

Publication Date: 2011-11-30

Variant appearance in text: rs3737965

PubMed Link: 22369494

Variant Present in the following documents:

• Main text
• 1471-2164-12-S3-S9.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: rs3737965

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Developmental Disabilities Research Reviews

Au, Kit Sing KS; Ashley-Koch, Allison A; Northrup, Hope H

Publication Date: 2010

Variant appearance in text: rs3737965

PubMed Link: 20419766

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry.

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

Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Poynter, Jenny N JN; Conti, David D; Duggan, David J DJ; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW

Publication Date: 2010-01

Variant appearance in text: rs3737965

PubMed Link: 20056627

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

Human Molecular Genetics

Hazra, Aditi A; Kraft, Peter P; Lazarus, Ross R; Chen, Constance C; Chanock, Stephen J SJ; Jacques, Paul P; Selhub, Jacob J; Hunter, David J DJ

Publication Date: 2009-12-01

Variant appearance in text: rs3737965

PubMed Link: 19744961

Variant Present in the following documents:

• Main text

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: rs3737965

PubMed Link: 19683694

Variant Present in the following documents:

• Main text

View BVdb publication page

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