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Homozygous mutations in PJVK and MYO15A genes associated with nonsyndromic hearing loss in Moroccan families

Exome sequencing identifies targets in the treatment-resistant phathalmoplegic subphenotype of Myasthenia Gravis

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

Recognizing RNA structural motifs in HT-SELEX data for ribosomal protein S15

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