| 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 | 688 | 2009 |
| Paternal obesity initiates metabolic disturbances in two generations of mice with incomplete penetrance to the F2 generation and alters the transcriptional profile of … T Fullston, EMCO Teague, NO Palmer, MJ DeBlasio, M Mitchell, ... The FASEB Journal 27 (10), 4226-4243, 2013 | 552 | 2013 |
| 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 | 499 | 2008 |
| 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 | 388 | 2013 |
| 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 | 347 | 2011 |
| Large deletions induced by Cas9 cleavage F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ... Nature 560 (7717), E8-E9, 2018 | 333 | 2018 |
| 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 | 311 | 2016 |
| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ... The American Journal of Human Genetics 90 (1), 152-160, 2012 | 308 | 2012 |
| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation PS Tarpey, F Lucy Raymond, LS Nguyen, J Rodriguez, A Hackett, ... Nature genetics 39 (9), 1127-1133, 2007 | 306 | 2007 |
| De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ... The American Journal of Human Genetics 99 (2), 287-298, 2016 | 257 | 2016 |
| Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy G McMichael, MN Bainbridge, E Haan, M Corbett, A Gardner, ... Molecular psychiatry 20 (2), 176-182, 2015 | 250 | 2015 |
| 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 | 246 | 2008 |
| The genetic landscape of intellectual disability arising from chromosome X J Gécz, C Shoubridge, M Corbett Trends in Genetics 25 (7), 308-316, 2009 | 223 | 2009 |
| MRC BHF Heart Protection Study of cholesterol-lowering therapy and of antioxidant vitamin supplementation in a wide range of patients at increased risk of coronary heart … T Meade, P Sleight, R Collins, J Armitage, S Parish, R Peto, L Youngman, ... European Heart Journal, 1999 | 208 | 1999 |
| 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 | 198 | 2015 |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... The American Journal of Human Genetics 87 (3), 371-375, 2010 | 141 | 2010 |
| Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 RT Florian, F Kraft, E Leitão, S Kaya, S Klebe, E Magnin, ... Nature communications 10 (1), 4919, 2019 | 137 | 2019 |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, ... European Journal of Human Genetics 18 (5), 544-552, 2010 | 135 | 2010 |
| Print CG, Owens JA, Lane M (2013) Paternal obesity initiates metabolic disturbances in two generations of mice with incomplete penetrance to the F2 generation and alters the … T Fullston, EM Ohlsson Teague, NO Palmer, MJ DeBlasio, M Mitchell, ... Faseb j 27 (10), 4226-4243, 0 | 133 | |
| Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 127 | 2020 |
Jozef GeczThe University of Adelaide在 adelaide.edu.au 的电子邮件经过验证
![Dr Tod Fullston, Molecular Genetic Scientist [post-doctoral]](https://images.xueshu.lanfanshu.cn/citations?view_op=small_photo&user=ZAh1avoAAAAJ&citpid=1)
