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| Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype L Potocki, W Bi, D Treadwell-Deering, CMB Carvalho, A Eifert, ... The American Journal of Human Genetics 80 (4), 633-649, 2007 | 438 | 2007 |
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| The Ehlers–Danlos syndromes, rare types AF Brady, S Demirdas, S Fournel‐Gigleux, N Ghali, C Giunta, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 215 | 2017 |
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| Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy CA Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, ... Nature genetics 46 (12), 1283-1292, 2014 | 189 | 2014 |
| CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions DT Butcher, C Cytrynbaum, AL Turinsky, MT Siu, M Inbar-Feigenberg, ... The American Journal of Human Genetics 100 (5), 773-788, 2017 | 182 | 2017 |
| Functional dysregulation of CDC42 causes diverse developmental phenotypes S Martinelli, OHF Krumbach, F Pantaleoni, S Coppola, E Amin, ... The American Journal of Human Genetics 102 (2), 309-320, 2018 | 156 | 2018 |
| Generalized metabolic bone disease in Neurofibromatosis type I N Brunetti-Pierri, SB Doty, J Hicks, K Phan, R Mendoza-Londono, M Blazo, ... Molecular genetics and metabolism 94 (1), 105-111, 2008 | 143 | 2008 |
| Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome S Dhanraj, A Matveev, H Li, S Lauhasurayotin, L Jardine, M Cada, ... Blood, The Journal of the American Society of Hematology 129 (11), 1557-1562, 2017 | 137 | 2017 |
| Recessive osteogenesis imperfecta caused by missense mutations in SPARC R Mendoza-Londono, S Fahiminiya, J Majewski, M Tétreault, J Nadaf, ... The American Journal of Human Genetics 96 (6), 979-985, 2015 | 137 | 2015 |
| Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ... The American Journal of Human Genetics 92 (6), 927-934, 2013 | 134 | 2013 |
| Spell checking nature: versatility of CRISPR/Cas9 for developing treatments for inherited disorders D Wojtal, DU Kemaladewi, Z Malam, S Abdullah, TWY Wong, E Hyatt, ... The American Journal of Human Genetics 98 (1), 90-101, 2016 | 130 | 2016 |
| The genetic landscape of familial congenital hydrocephalus R Shaheen, MA Sebai, N Patel, N Ewida, W Kurdi, I Altweijri, S Sogaty, ... Annals of neurology 81 (6), 890-897, 2017 | 126 | 2017 |
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Christian R. MarshallThe Hospital for Sick ChildrenVerified email at sickkids.ca
