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Mark Corbett
Mark Corbett
adelaide.edu.au üzerinde doğrulanmış e-posta adresine sahip
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Alıntı yapanlar
Alıntı yapanlar
Yıl
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
6792009
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
5422013
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
4882008
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
3792013
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
3422011
Large deletions induced by Cas9 cleavage
F Adikusuma, S Piltz, MA Corbett, M Turvey, SR McColl, KJ Helbig, ...
Nature 560 (7717), E8-E9, 2018
3132018
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
3042016
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
3032012
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
2962007
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
2472016
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
2432008
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
2382015
The genetic landscape of intellectual disability arising from chromosome X
J Gécz, C Shoubridge, M Corbett
Trends in Genetics 25 (7), 308-316, 2009
2222009
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
1932015
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
1392010
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
1322010
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
1302019
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
127
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
1212020
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
1212019
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