| Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone Y Yogev, Z Shorer, A Koifman, O Wormser, M Drabkin, D Halperin, ... Proceedings of the National Academy of Sciences 120 (7), e2217831120, 2023 | 29 | 2023 |
| CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice D Halperin, A Stavsky, R Kadir, M Drabkin, O Wormser, Y Yogev, V Dolgin, ... Nature Communications 12 (1), 6187, 2021 | 29 | 2021 |
| PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay R Proskorovski‐Ohayon, R Kadir, A Michalowski, H Flusser, Y Perez, ... Human mutation 38 (12), 1671-1683, 2017 | 18 | 2017 |
| PSMC1 variant causes a novel neurological syndrome S Aharoni, R Proskorovski‐Ohayon, RK Krishnan, Y Yogev, O Wormser, ... Clinical Genetics 102 (4), 324-332, 2022 | 10 | 2022 |
| VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19 N Hadar, V Dolgin, K Oustinov, Y Yogev, T Poleg, A Safran, O Freund, ... Human Genetics 143 (5), 695-701, 2024 | 5 | 2024 |
| SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice M Drabkin, MM Jean, Y Noy, D Halperin, Y Yogev, O Wormser, ... Journal of medical genetics 61 (2), 117-124, 2024 | 4 | 2024 |
| Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation A Safran, R Proskorovski‐Ohayon, M Eskin‐Schwartz, Y Yogev, ... Journal of Inherited Metabolic Disease 46 (4), 744-755, 2023 | 4 | 2023 |
| Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy T Poleg, M Eskin-Schwartz, R Proskorovski-Ohayon, I Aminov, V Dolgin, ... Journal of Cardiovascular Translational Research 16 (6), 1325-1331, 2023 | 3 | 2023 |
| ZNF142 mutation causes sex-dependent neurologic disorder R Proskorovski-Ohayon, M Eskin-Schwartz, Z Shorer, R Kadir, D Halperin, ... Journal of Medical Genetics 61 (6), 566-577, 2024 | 2 | 2024 |
| De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia M Gombosh, Y Yogev, N Hadar, R Proskorovski‐Ohayon, S Aharoni, ... Clinical Genetics 104 (5), 571-576, 2023 | 2 | 2023 |
| Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway M Gombosh, R Proskorovski-Ohayon, Y Yogev, M Eskin-Schwartz, ... Journal of Medical Genetics 61 (10), 959-965, 2024 | | 2024 |
| Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion T Poleg, R Proskorovski‐Ohayon, V Dolgin, N Hadar, A Safran, N Agam, ... Clinical Genetics, 2024 | | 2024 |
| Neurodevelopmental disorder caused by homozygous variant in NTNG2 A Safran, R Proskorovski-Ohayon, OS Birk EUROPEAN JOURNAL OF HUMAN GENETICS 32, 199-200, 2024 | | 2024 |
| Leukodystrophy in consanguineous Bedouin kindred caused by homozygous novel NOTCH3 nonsense mutation A Safran, R Proskorovski-Ohayon, OS Birk EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 290-290, 2022 | | 2022 |
