| SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome O Wormser, L Gradstein, Y Yogev, Y Perez, R Kadir, I Goliand, Y Sadka, ... European Journal of Human Genetics 27 (6), 928-940, 2019 | 42 | 2019 |
| Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase M Drabkin, Y Yogev, L Zeller, R Zarivach, R Zalk, D Halperin, O Wormser, ... The Journal of clinical investigation 129 (12), 5163-5168, 2019 | 36 | 2019 |
| SEC31A mutation affects ER homeostasis, causing a neurological syndrome D Halperin, R Kadir, Y Perez, M Drabkin, Y Yogev, O Wormser, ... Journal of Medical Genetics 56 (3), 139-148, 2019 | 35 | 2019 |
| Progressive hereditary spastic paraplegia caused by a homozygous KY mutation Y Yogev, Y Perez, I Noyman, AA Madegem, H Flusser, Z Shorer, E Cohen, ... European Journal of Human Genetics 25 (8), 966-972, 2017 | 26 | 2017 |
| Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred M Drabkin, OS Birk, R Birk BMC Medical Genetics 19, 1-7, 2018 | 21 | 2018 |
| Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel M Drabkin, N Zilberberg, S Menahem, W Mulla, D Halperin, Y Yogev, ... Circulation: Genomic and Precision Medicine 11 (11), e002293, 2018 | 21 | 2018 |
| 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 | 20 | 2021 |
| 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 | 11 | 2023 |
| Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome D Halperin, M Drabkin, O Wormser, Y Yogev, V Dolgin, Z Shorer, ... American Journal of Medical Genetics Part A 182 (6), 1506-1512, 2020 | 8 | 2020 |
| A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I D Halperin, V Dolgin, M Geylis, M Drabkin, Y Yogev, O Wormser, ... Annals of Human Genetics 83 (5), 361-366, 2019 | 5 | 2019 |
| 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 | 3 | 2023 |
| Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy Y Yogev, J Bistritzer, Y Sadaka, A Michaelovsky, Y Cavari, Y Feinstein, ... Molecular Diagnosis & Therapy 26 (5), 561-568, 2022 | 2 | 2022 |
| Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe O Wormser, L Gradstein, E Kadar, Y Yogev, Y Perez, E Mashkit, ... American Journal of Medical Genetics Part A 176 (12), 2695-2703, 2018 | 2 | 2018 |
| 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 | 1 | 2024 |
| ZNF142 mutation causes sex-dependent neurologic disorder R Proskorovski-Ohayon, M Eskin-Schwartz, Z Shorer, R Kadir, D Halperin, ... Journal of Medical Genetics, 2024 | 1 | 2024 |
| A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21. 13‐q21. 3 D Halperin, N Agam, M Hallak, M Feinstein, M Drabkin, Y Yogev, ... Clinical Genetics 102 (2), 123-129, 2022 | 1 | 2022 |
| Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report D Halperin, A Sapir, O Wormser, M Drabkin, Y Yogev, V Dolgin, H Flusser, ... neurogenetics 21, 301-304, 2020 | 1 | 2020 |
| 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, 1-7, 2024 | | 2024 |
| A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma Y Yogev, M Schaffer, M Shlapobersky, MM Jean, O Wormser, M Drabkin, ... Journal of Medical Virology 96 (2), e29436, 2024 | | 2024 |
| IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma O Wormser, Y Perez, V Dolgin, B Kamali, JA Tangeman, L Gradstein, ... NPJ Genomic Medicine 8 (1), 22, 2023 | | 2023 |
Yuval YogevMD-PhD, Shraga Segal Department of Microbiology and Immunology, Ben-Gurion University of the Negevכתובת אימייל מאומתת בדומיין post.bgu.ac.il
