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Genetic Risk Factors for Folate-Responsive Neural Tube Defects

Annual review of nutrition, 2017-08, Vol.37, p.269

2017

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

PloS one, 2022-01, Vol.17 (1), p.e0251286-e0251286

2022

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Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes

PloS one, 2011-07, Vol.6 (7), p.e21851-e21851

2011

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Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls

The Journal of molecular diagnostics : JMD, 2022-01, Vol.24 (1), p.33-40

2022

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A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin

American journal of human genetics, 2016-05, Vol.98 (5), p.869-882

2016

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Effects of Folate and Vitamin B12 Deficiencies During Pregnancy on Fetal, Infant, and Child Development

Food and nutrition bulletin, 2008-06, Vol.29 (2_suppl1), p.S101-S111

2008

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Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association

Proceedings of the National Academy of Sciences - PNAS, 2013-01, Vol.110 (2), p.588-593

2013

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Tryptophan catabolism and vitamin B-6 status are affected by gender and lifestyle factors in healthy young adults

The Journal of nutrition, 2015-04, Vol.145 (4), p.701-707

2015

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Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

PloS one, 2016-10, Vol.11 (10), p.e0165174-e0165174

2016

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Copy number variants in Ebstein anomaly

PloS one, 2017-12, Vol.12 (12), p.e0188168-e0188168

2017

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Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype

PloS one, 2012-03, Vol.7 (3), p.e32941-e32941

2012

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Prioritizing diversity in human genomics research

Nature reviews. Genetics, 2018-03, Vol.19 (3), p.175

2018

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Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

PLoS medicine, 2018-08, Vol.15 (8), p.e1002650-e1002650

2018

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Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing

Communications biology, 2022-11, Vol.5 (1), p.1269-1269, Article 1269

2022

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BRCA1 Interacts with Components of the Histone Deacetylase Complex

Proceedings of the National Academy of Sciences - PNAS, 1999-04, Vol.96 (9), p.4983-4988

1999

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Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

Scientific reports, 2018-05, Vol.8 (1), p.7208-2, Article 7208

2018

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Disruption of the folate pathway in zebrafish causes developmental defects

BMC developmental biology, 2012-04, Vol.12 (1), p.12-12, Article 12

2012

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Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades

American journal of human genetics, 2021-12, Vol.108 (12), p.2215-2223

2021

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Human Germline Genome Editing

American journal of human genetics, 2017-08, Vol.101 (2), p.167-176

2017

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A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group

American journal of human genetics, 2002-11, Vol.71 (5), p.1207-1215

2002

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Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing

Journal of medical Internet research, 2010-09, Vol.12 (3), p.e41-e41

2010

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The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago

Communications biology, 2023-04, Vol.6 (1), p.469-469, Article 469

2023

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Getting It Right: How Public Engagement Might (and Might Not) Help Us Determine What Is Equitable in Genomics and Precision Medicine

American journal of bioethics, 2023-07, Vol.23 (7), p.5-8

2023

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Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100518-100518, Article 100518

2019

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Genetic Risk Factors for Folate-Responsive Neural Tube Defects

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes

Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin

Effects of Folate and Vitamin B12 Deficiencies During Pregnancy on Fetal, Infant, and Child Development

Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association

Tryptophan catabolism and vitamin B-6 status are affected by gender and lifestyle factors in healthy young adults

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

Copy number variants in Ebstein anomaly

Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype

Prioritizing diversity in human genomics research

Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing

BRCA1 Interacts with Components of the Histone Deacetylase Complex

Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

Disruption of the folate pathway in zebrafish causes developmental defects

Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades

Human Germline Genome Editing

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group

Strategic vision for improving human health at The Forefront of Genomics

Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing

The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago

Getting It Right: How Public Engagement Might (and Might Not) Help Us Determine What Is Equitable in Genomics and Precision Medicine

Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy

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