| 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 | 681 | 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 | 650 | 2014 |
| 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 | 513 | 2002 |
| 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 | 510 | 2017 |
| 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 | 492 | 2008 |
| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 304 | 2016 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 268 | 2015 |
| Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ... Nature genetics 32 (4), 661-665, 2002 | 246 | 2002 |
| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ... The American Journal of Human Genetics 82 (2), 432-443, 2008 | 244 | 2008 |
| Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative … PS Tarpey, FL Raymond, S O’Meara, S Edkins, J Teague, A Butler, ... The American Journal of Human Genetics 80 (2), 345-352, 2007 | 237 | 2007 |
| Epilepsy and mental retardation limited to females: an under-recognized disorder IE Scheffer, SJ Turner, LM Dibbens, MA Bayly, K Friend, B Hodgson, ... Brain 131 (4), 918-927, 2008 | 217 | 2008 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 204 | 2020 |
| Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus FL Raymond, PS Tarpey, S Edkins, C Tofts, S O’Meara, J Teague, ... The American Journal of Human Genetics 80 (5), 982-987, 2007 | 204 | 2007 |
| Targeted next‐generation sequencing analysis of 1,000 individuals with intellectual disability D Grozeva, K Carss, O Spasic‐Boskovic, MI Tejada, J Gecz, M Shaw, ... Human mutation 36 (12), 1197-1204, 2015 | 194 | 2015 |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature neuroscience 20 (8), 1043-1051, 2017 | 171 | 2017 |
| Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability C Shoubridge, PS Tarpey, F Abidi, SL Ramsden, S Rujirabanjerd, ... Nature genetics 42 (6), 486-488, 2010 | 171 | 2010 |
| Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 166 | 2016 |
| Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation KP Burdon, JD McKay, MM Sale, IM Russell-Eggitt, DA Mackey, MG Wirth, ... The American Journal of Human Genetics 73 (5), 1120-1130, 2003 | 150 | 2003 |
| Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1 MP Guy, M Shaw, CL Weiner, L Hobson, Z Stark, K Rose, VM Kalscheuer, ... Human mutation 36 (12), 1176-1187, 2015 | 147 | 2015 |
| Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability AC Whibley, V Plagnol, PS Tarpey, F Abidi, T Fullston, MK Choma, ... The American Journal of Human Genetics 87 (2), 173-188, 2010 | 145 | 2010 |
Jozef GeczThe University of Adelaideadelaide.edu.au üzerinde doğrulanmış e-posta adresine sahip
