Elon Pras
Tel Aviv University(IL)Sheba Medical Center(IL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Amino Acid Enzymes and Metabolism, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy(2014)692 cited
- → Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios(2015)338 cited
- → Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT(1999)332 cited
- → Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers(2002)278 cited
- → Pacemaker Endocarditis Report of 44 Cases and Review of the Literature(1994)251 cited
- A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.(2000)
- → Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting Synthesis, Trafficking, and Functional Expression Is Associated With Familial Asymptomatic Sinus Bradycardia(2007)176 cited