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| Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ... The American Journal of Human Genetics 79 (2), 370-377, 2006 | 426 | 2006 |
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ... Human molecular genetics 13 (20), 2493-2503, 2004 | 422 | 2004 |
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| Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever C Cazeneuve, H Ajrapetyan, S Papin, F Roudot-Thoraval, D Geneviève, ... The American Journal of Human Genetics 67 (5), 1136-1143, 2000 | 318 | 2000 |
| Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects K Poirier, Y Saillour, N Bahi-Buisson, XH Jaglin, C Fallet-Bianco, ... Human molecular genetics 19 (22), 4462-4473, 2010 | 292 | 2010 |
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| DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ... The American Journal of Human Genetics 84 (5), 706-711, 2009 | 256 | 2009 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 240 | 2011 |
| A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis) S Grandemange, E Sanchez, P Louis-Plence, FT Mau-Them, D Bessis, ... Annals of the rheumatic diseases 76 (7), 1191-1198, 2017 | 219 | 2017 |
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