| De novo mutations in GRIN1 cause extensive bilateral polymicrogyria AE Fry, KA Fawcett, N Zelnik, H Yuan, BAN Thompson, L Shemer-Meiri, ... Brain 141 (3), 698-712, 2018 | 96 | 2018 |
| Fetal exome sequencing: yield and limitations in a tertiary referral center H Daum, V Meiner, O Elpeleg, T Harel, Collaborating Authors, L Bar‐Or, ... Ultrasound in Obstetrics & Gynecology 53 (1), 80-86, 2019 | 58 | 2019 |
| Testicular differentiation factor SF-1 is required for human spleen development D Zangen, Y Kaufman, E Banne, A Weinberg-Shukron, A Abulibdeh, ... The Journal of clinical investigation 124 (5), 2071-2075, 2014 | 41 | 2014 |
| Modeling genetic epileptic encephalopathies using brain organoids DJ Steinberg, S Repudi, A Saleem, I Kustanovich, S Viukov, B Abudiab, ... EMBO Molecular Medicine 13 (8), e13610, 2021 | 40 | 2021 |
| Chromosomal microarray analysis results from pregnancies with various ultrasonographic anomalies L Sagi-Dain, I Maya, A Reches, A Frumkin, J Grinshpun-Cohen, R Segel, ... Obstetrics & Gynecology 132 (6), 1368-1375, 2018 | 38 | 2018 |
| West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation E Banne, O Atawneh, M Henneke, K Brockmann, J Gärtner, O Elpeleg, ... Journal of Medical Genetics 50 (11), 772-775, 2013 | 35 | 2013 |
| Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome AU Carbonell, CH Cho, JO Tindi, PA Counts, JC Bates, ... Nature communications 10 (1), 3529, 2019 | 28 | 2019 |
| Neurological disorders associated with WWOX germline mutations—a comprehensive overview E Banne, B Abudiab, S Abu-Swai, SR Repudi, DJ Steinberg, D Shatleh, ... Cells 10 (4), 824, 2021 | 19 | 2021 |
| Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews M Weisz-Hubshman, H Meirson, R Michaelson-Cohen, R Beeri, S Tzur, ... European Journal of Paediatric Neurology 23 (3), 418-426, 2019 | 19 | 2019 |
| Transaldolase deficiency: a new case expands the phenotypic spectrum E Banne, V Meiner, A Shaag, R Katz-Brull, A Gamliel, S Korman, ... JIMD Reports, Volume 26, 31-36, 2016 | 18 | 2016 |
| Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome F Tessadori, K Duran, K Knapp, M Fellner, S Smithson, AB Meireles, ... The American Journal of Human Genetics 109 (4), 750-758, 2022 | 17 | 2022 |
| The role of orotic acid measurement in routine newborn screening for urea cycle disorders O Staretz‐Chacham, S Daas, I Ulanovsky, A Blau, N Rostami, ... Journal of Inherited Metabolic Disease 44 (3), 606-617, 2021 | 15 | 2021 |
| Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results–analysis of 269 singleton pregnancies A Singer, I Maya, E Banne, HB Feldman, C Vinkler, SB Shachar, ... Early Human Development 145, 105047, 2020 | 15 | 2020 |
| Microarray analysis in pregnancies with isolated unilateral kidney agenesis L Sagi-Dain, I Maya, A Peleg, A Reches, E Banne, HN Baris, T Tenne, ... Pediatric research 83 (4), 825-828, 2018 | 15 | 2018 |
| Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects KL Ayers, S Eggers, BN Rollo, KR Smith, NM Davidson, NA Siddall, ... Nature communications 14 (1), 3403, 2023 | 9 | 2023 |
| De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A E Banne, T Falik‐Zaccai, E Brielle, L Kalfon, H Ladany, D Klinger, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 183 …, 2020 | 8 | 2020 |
| The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel E Kristal, B Pode-Shakked, G Hazan, E Banne, G Ling, O David, E Shany, ... Orphanet Journal of Rare Diseases 16, 1-6, 2021 | 6 | 2021 |
| National rapid genome sequencing in neonatal intensive care D Marom, A Mory, S Reytan-Miron, Y Amir, A Kurolap, JG Cohen, Y Morhi, ... JAMA network open 7 (2), e240146-e240146, 2024 | 5 | 2024 |
| Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and … A Zung, G Barash, E Banne, MA Levine Hormone research in paediatrics 96 (5), 473-482, 2023 | 4 | 2023 |
| Genetic variants in ARHGEF6 cause congenital anomalies of the kidneys and urinary tract in humans, mice, and Frogs V Klämbt, F Buerger, C Wang, T Naert, K Richter, T Nauth, AC Weiss, ... Journal of the American Society of Nephrology 34 (2), 273-290, 2023 | 3 | 2023 |
