| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 309 | 2017 |
| Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease M Biegstraaten, TM Cox, N Belmatoug, MG Berger, T Collin-Histed, ... Blood Cells, Molecules, and Diseases 68, 203-208, 2018 | 120 | 2018 |
| A novel approach for the identification of protein–protein interaction with integral membrane proteins M Hubsman, G Yudkovsky, A Aronheim Nucleic Acids Research 29 (4), e18-e18, 2001 | 96 | 2001 |
| Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum L Basel-Vanagaite, T Hershkovitz, E Heyman, M Raspall-Chaure, N Kakar, ... The American Journal of Human Genetics 93 (3), 524-529, 2013 | 84 | 2013 |
| Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested L Basel-Salmon, N Orenstein, K Markus-Bustani, N Ruhrman-Shahar, ... Genetics in Medicine 21 (6), 1443-1451, 2019 | 82 | 2019 |
| Autophosphorylation-dependent degradation of Pak1, triggered by the Rho-family GTPase, Chp M Weisz Hubsman, N Volinsky, E Manser, D Yablonski, A Aronheim Biochemical Journal 404 (3), 487-497, 2007 | 62 | 2007 |
| Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome V Salpietro, W Lin, A Delle Vedove, M Storbeck, Y Liu, S Efthymiou, ... Annals of neurology 81 (4), 597-603, 2017 | 57 | 2017 |
| Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature P Hemati, A Revah‐Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ... American journal of medical genetics Part A 176 (11), 2259-2275, 2018 | 55 | 2018 |
| Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability L Li, M Ghorbani, M Weisz-Hubshman, J Rousseau, I Thiffault, RE Schnur, ... The Journal of clinical investigation 130 (3), 1431-1445, 2020 | 52 | 2020 |
| De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures R Fukai, H Saitsu, Y Tsurusaki, Y Sakai, K Haginoya, K Takahashi, ... Journal of Human Genetics 61 (5), 381-387, 2016 | 48 | 2016 |
| Detection of copy number variations in epilepsy using exome data N Tsuchida, M Nakashima, M Kato, E Heyman, T Inui, K Haginoya, ... Clinical genetics 93 (3), 577-587, 2018 | 41 | 2018 |
| A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder N Orenstein, H Goldberg-Stern, R Straussberg, L Bazak, MW Hubshman, ... European journal of paediatric neurology 22 (3), 516-524, 2018 | 28 | 2018 |
| Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa M Weisz Hubshman, S Broekman, E van Wijk, F Cremers, A Abu-Diab, ... Human molecular genetics 27 (4), 614-624, 2018 | 27 | 2018 |
| Familial dysautonomia M Shohat, M Weisz Hubshman GeneReviews (R). Seattle, WA: University of Washington, 1993 | 26* | 1993 |
| Homozygous MED25 mutation implicated in eye–intellectual disability syndrome L Basel-Vanagaite, P Smirin-Yosef, JL Essakow, S Tzur, I Lagovsky, ... Human Genetics 134, 577-587, 2015 | 25 | 2015 |
| Is one diagnosis the whole story? patients with double diagnoses A Kurolap, N Orenstein, I Kedar, M Weisz Hubshman, D Tiosano, A Mory, ... American Journal of Medical Genetics Part A 170 (9), 2338-2348, 2016 | 24 | 2016 |
| 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 | 18 | 2019 |
| Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis M Weisz Hubshman, L Basel‐Vanagaite, A Krauss, O Konen, Y Levy, ... Clinical Genetics 91 (6), 902-907, 2017 | 11 | 2017 |
| Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones HN Baris, MW Hubshman, Z Bar-Sever, L Kornreich, VS Zemer, IJ Cohen Blood Cells, Molecules, and Diseases 60, 65-72, 2016 | 11 | 2016 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder B Tepe, EL Macke, M Niceta, MW Hubshman, O Kanca, L Schultz-Rogers, ... The American Journal of Human Genetics 110 (5), 774-789, 2023 | 9 | 2023 |
