| ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size R Kadir, T Harel, B Markus, Y Perez, A Bakhrat, I Cohen, M Volodarsky, ... PLoS genetics 12 (3), e1005919, 2016 | 90 | 2016 |
| SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome Y Perez, Z Shorer, K Liani-Leibson, P Chabosseau, R Kadir, ... Brain 140 (4), 928-939, 2017 | 89 | 2017 |
| VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) M Feinstein, H Flusser, T Lerman-Sagie, B Ben-Zeev, D Lev, O Agamy, ... Journal of medical genetics 51 (5), 303-308, 2014 | 82 | 2014 |
| Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability A Rom, L Melamed, N Gil, MJ Goldrich, R Kadir, M Golan, I Biton, ... Nature Communications 10 (1), 5092, 2019 | 81 | 2019 |
| Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase I Cohen, E Silberstein, Y Perez, D Landau, K Elbedour, Y Langer, R Kadir, ... European Journal of Human Genetics 22 (3), 374-378, 2014 | 69 | 2014 |
| UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel … Y Perez, R Kadir, M Volodarsky, I Noyman, H Flusser, Z Shorer, ... Journal of medical genetics 53 (6), 397-402, 2016 | 56 | 2016 |
| Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation Y Perez, L Gradstein, H Flusser, B Markus, I Cohen, Y Langer, M Marcus, ... European Journal of Human Genetics 22 (5), 703-706, 2014 | 52 | 2014 |
| 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 |
| Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish Y Perez, R Bar-Yaacov, R Kadir, O Wormser, I Shelef, OS Birk, H Flusser, ... Brain 142 (3), 574-585, 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 |
| RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 Y Perez, S Menascu, I Cohen, R Kadir, O Basha, Z Shorer, H Romi, ... Brain 141 (4), 961-970, 2018 | 26 | 2018 |
| 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 |
| 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 |
| A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion I Cohen, O Staretz‐Chacham, O Wormser, Y Perez, A Saada, R Kadir, ... American Journal of Medical Genetics Part A 176 (2), 330-336, 2018 | 17 | 2018 |
| 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 | 17 | 2017 |
| 2020 Eberhard F. Mammen Award Announcements: Part I—Most Popular Articles EJ Favaloro Seminars in Thrombosis and Hemostasis 46 (04), 383-392, 2020 | 16 | 2020 |
| CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay M Volodarsky, H Lichtig, T Leibson, Y Sadaka, R Kadir, Y Perez, ... Human molecular genetics 24 (22), 6485-6491, 2015 | 13 | 2015 |
| Localization of the Drosophila Rad9 Protein to the Nuclear Membrane Is Regulated by the C-Terminal Region and Is Affected in the Meiotic Checkpoint R Kadir, A Bakhrat, R Tokarsky, U Abdu PLoS One 7 (5), e38010, 2012 | 13 | 2012 |
