Latest Publications
Combined mutation in Vhl, Trp53 and Rb1 causes clear cell renal cell carcinoma in mice. Nature Medicine
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Familial Pulmonary Fibrosis.
The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of SLC26A4 Anion Exchanger
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant non-syndromic hearing loss
Null Mutations of Group A Streptococcus Orphan Kinase RocA: Selection in Mouse Infection and Comparison with CovS Mutations in Alteration of In Vitro and In Vivo Protease SpeB Expression and Virulence
Multiregional Radiogenomic Assessment of Prostate Microenvironments with multiparametric MR Imaging and DNA Whole-exome Sequencing of Prostate Glands with Adenocarcinoma
Novel small RNA (sRNA) landscape of the starvation-stress response transcriptome of Salmonella enterica serovar typhimurium
Integrating Cadaver Exome Sequencing Into a First-Year Medical Student Curriculum