Corbett, Mark

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Paternal obesity initiates metabolic disturbances in two generations of mice with incomplete penetrance to the F 2 generation and alters the transcriptional profile of testis and sperm microRNA content

Fullston, T., Teague, E. M. C. O., Palmer, N. O., DeBlasio, M. J., Mitchell, M., Corbett, M., Print, C. G., Owens, J. A., & Lane, M. (2013) · The FASEB Journal

Birth, Development, and HealthSperm and Testicular Function

Cited by 600

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., Crompton, D. E., Hughes, J. N., Bellows, S. T., Klein, K. M., et al. (2013) · Nature Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 373

Large deletions induced by Cas9 cleavage

Adikusuma, F., Piltz, S., Corbett, M. A., Turvey, M., McColl, S. R., Helbig, K. J., Beard, M. R., Hughes, J., Pomerantz, R. T., & Thomas, P. Q. (2018) · Nature

CRISPR and Genetic EngineeringRNA regulation and disease

Cited by 371

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 287

The genetic landscape of intellectual disability arising from chromosome X

Gécz, J., Shoubridge, C., & Corbett, M. (2009) · Trends in Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 207

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair

Brickner, J. R., Soll, J. M., Lombardi, P. M., Vågbø, C. B., Mudge, M. C., Oyeniran, C., Rabe, R., Jackson, J., Sullender, M. E., Blazosky, E., et al. (2017) · Nature

DNA Repair MechanismsUbiquitin and proteasome pathways

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Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

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