| Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males H Van Esch, M Bauters, J Ignatius, M Jansen, M Raynaud, K Hollanders, ... The American Journal of Human Genetics 77 (3), 442-453, 2005 | 724 | 2005 |
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ... Nature genetics 41 (5), 535-543, 2009 | 708 | 2009 |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ... Nature genetics 46 (10), 1063-1071, 2014 | 699 | 2014 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 682 | 2010 |
| Correlation between genotype and phenotype in patients with cystic fibrosis LC Tsui New England journal of medicine 329, 1308-1313, 1993 | 601 | 1993 |
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ... The American Journal of Human Genetics 75 (6), 1079-1093, 2004 | 593 | 2004 |
| Cerebral palsy: causes, pathways, and the role of genetic variants AH MacLennan, SC Thompson, J Gecz American journal of obstetrics and gynecology 213 (6), 779-788, 2015 | 592 | 2015 |
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 574 | 2017 |
| Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy P Strømme, ME Mangelsdorf, MA Shaw, KM Lower, SME Lewis, ... Nature genetics 30 (4), 441-445, 2002 | 518 | 2002 |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ... Nature genetics 40 (6), 776-781, 2008 | 514 | 2008 |
| Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ... The American Journal of Human Genetics 76 (2), 227-236, 2005 | 443 | 2005 |
| Mutations in DEPDC5 cause familial focal epilepsy with variable foci LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ... Nature genetics 45 (5), 546-551, 2013 | 408 | 2013 |
| Mutations in the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation J Tao, H Van Esch, M Hagedorn-Greiwe, K Hoffmann, B Moser, ... The American Journal of Human Genetics 75 (6), 1149-1154, 2004 | 390 | 2004 |
| Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S Kübart, ... The American Journal of Human Genetics 72 (6), 1401-1411, 2003 | 390 | 2003 |
| Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ... Genome biology 17, 1-21, 2016 | 358 | 2016 |
| Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ... Molecular cell 42 (4), 500-510, 2011 | 355 | 2011 |
| Identification of the gene FMR2, associated with FRAXE mental retardation J Gecz, AK Gedeon, GR Sutherland, JC Mulley Nature genetics 13 (1), 105-108, 1996 | 351 | 1996 |
| PHF6 mutations in T-cell acute lymphoblastic leukemia P Van Vlierberghe, T Palomero, H Khiabanian, J Van der Meulen, ... Nature genetics 42 (4), 338-342, 2010 | 350 | 2010 |
| ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ... Human molecular genetics 11 (8), 981, 2002 | 350 | 2002 |
| Common genetic variants contribute to risk of rare severe neurodevelopmental disorders MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ... Nature 562 (7726), 268-271, 2018 | 337 | 2018 |
Mark CorbettUniversity of AdelaideEmail verificata su adelaide.edu.au