Associated Papers
Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.
Akcesme B et al.
Neurogenetics, 2024
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Genetics and regulation of HDL metabolism.
Kardassis D et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022
Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.
Kato K et al.
Molecules (basel, Switzerland), 2021
GALNT2 regulates ANGPTL3 cleavage in cells and in vivo of mice.
Li X et al.
Scientific Reports, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.
Vitali C et al.
Current Cardiology Reports, 2017
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Khetarpal SA et al.
Cell Metabolism, 2016
Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.
Guo T et al.
Journal of Cellular and Molecular Medicine, 2016
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.
Roman TS et al.
American Journal of Human Genetics, 2015
A glycogene mutation map for discovery of diseases of glycosylation.
Hansen L et al.
Glycobiology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Site-specific protein O-glycosylation modulates proprotein processing - deciphering specific functions of the large polypeptide GalNAc-transferase gene family.
Schjoldager KT et al.
Biochimica Et Biophysica Acta, 2012
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Tietjen I et al.
Plos One, 2012
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.
Holleboom AG et al.
Cell Metabolism, 2011