Associated Papers
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 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
A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.
Chu X et al.
Iranian Journal of Public Health, 2022
Environmental exposures and breast cancer risk in the context of underlying susceptibility: A systematic review of the epidemiological literature.
Zeinomar N et al.
Environmental Research, 2020
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ et al.
Nature Genetics, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Montenegro G et al.
Annals of Neurology, 2011
Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.
Lou T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
Kühnlein P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk.
Shen J et al.
Breast Cancer Research and Treatment, 2006
Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
Savas S et al.
Bmc Cancer, 2005
Identifying functional genetic variants in DNA repair pathway using protein conservation analysis.
Savas S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004