Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
Chen R et al.
Genome Biology, 2025
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.
Perry DJ et al.
Scientific Data, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.
Goto K et al.
Plos One, 2021
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Lyon GJ et al.
Cold Spring Harbor Molecular Case Studies, 2019
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
Mahmud Z et al.
Biomed Research International, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2014