Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Van Vooren E et al.
Investigative Ophthalmology & Visual Science, 2025
40985799 (PubMed )
Supplement: iovs-66-12-53_s001.docx
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.
Murugan S et al.
Frontiers in Cell and Developmental Biology, 2022
Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.
Riobello C et al.
Cancers, 2021
34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf
Mutation of the EPHA2 Tyrosine-Kinase Domain Dysregulates Cell Pattern Formation and Cytoskeletal Gene Expression in the Lens.
Zhou Y et al.
Cells, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.
Zhai Y et al.
Investigative Ophthalmology & Visual Science, 2019
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan SA et al.
Clinical Case Reports, 2018
29988648 (PubMed )
Supplement: CCR3-6-1208-s002.xlsx › Table_S1
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
Shentu XC et al.
International Journal of Ophthalmology, 2013
Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation.
Masoodi TA et al.
Bioinformation, 2012
EPHA2 is associated with age-related cortical cataract in mice and humans.
Jun G et al.
Plos Genetics, 2009
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