Associated Papers
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
Singh N et al.
Journal of Human Genetics, 2023
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Durkin A et al.
Journal of Medical Genetics, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B
Insufficient evidence for a role of SERPINF1 in otosclerosis.
Valgaeren H et al.
Molecular Genetics and Genomics : Mgg, 2019
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
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