Alina Kurolap
Tel Aviv Sourasky Medical Center(IL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research
Most-Cited Works
- → Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths(2021)617 cited
- → The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies(2022)183 cited
- → The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis(2019)97 cited
- → Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies(2022)77 cited
- → Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy(2017)64 cited
- → The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews(2015)56 cited
- → Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder(2018)53 cited
- → Gaucher disease type 3c: New patients with unique presentations and review of the literature(2019)43 cited
- → Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease(2023)42 cited
- → Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine(2016)40 cited