Associated Papers
Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.
Aguayo-Gómez A et al.
Plos One, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic Variants Shaping Inter-individual Differences in Response to Dietary Intakes-A Narrative Review of the Case of Vitamins.
Niforou A et al.
Frontiers in Nutrition, 2020
Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.
Liu X et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.
Deng C et al.
Scientific Reports, 2019
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.
Fang Y et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018
Comparative analysis of four disease prediction models of Parkinson's disease.
Kumudini N et al.
Molecular and Cellular Biochemistry, 2016
Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association.
Wang Y et al.
Medicine, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Genome-wide detection of allelic gene expression in hepatocellular carcinoma cells using a human exome SNP chip.
Park YM et al.
Gene, 2014
Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.
Joslin AC et al.
Genes & Nutrition, 2014
Association of seven functional polymorphisms of one-carbon metabolic pathway with total plasma homocysteine levels and susceptibility to Parkinson's disease among South Indians.
Kumudini N et al.
Neuroscience Letters, 2014
Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese.
Huang T et al.
Journal of Nutrigenetics and Nutrigenomics, 2014
Impact of COMT H108L, MAOB int 13 A>G and DRD2 haplotype on the susceptibility to Parkinson's disease in South Indian subjects.
Kumudini N et al.
Indian Journal of Biochemistry & Biophysics, 2013
Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura.
Roecklein KA et al.
Cephalalgia : an International Journal of Headache, 2013
Folate-genetics and colorectal neoplasia: what we know and need to know next.
Figueiredo JC et al.
Molecular Nutrition & Food Research, 2013
Association of MTHFR, MTR, and MTRR polymorphisms with Parkinson's disease among ethnic Chinese in Taiwan.
Fong CS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.
Kumar J et al.
Circulation. Cardiovascular Genetics, 2009
Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.
Carr DF et al.
The Pharmacogenomics Journal, 2009
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
Martinez CA et al.
American Journal of Obstetrics and Gynecology, 2009
Prognostic significance of folate metabolism polymorphisms for lung cancer.
Matakidou A et al.
British Journal of Cancer, 2007
Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study.
Hazra A et al.
Carcinogenesis, 2007
Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study.
Gast A et al.
Leukemia, 2007
Current perspectives on the genetic causes of neural tube defects.
De Marco P et al.
Neurogenetics, 2006
Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.
O'Leary VB et al.
Molecular Genetics and Metabolism, 2005
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Zavadáková P et al.
Human Mutation, 2005
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
Suormala T et al.
The Journal of Biological Chemistry, 2004