Hernan Dario Gonorazky

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.

The paper conducts a longitudinal study of Mtm1 knockout mice to understand the natural history of X-linked myotubular myopathy, identifying molecular and structural changes preceding and coinciding with disease phenotypes.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.