Mark Corbett
The University of Adelaide(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Sinusitis and nasal conditions, Genomic variations and chromosomal abnormalities, RNA Research and Splicing
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → 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(2013)582 cited
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
- → Large deletions induced by Cas9 cleavage(2018)409 cited
- → Mutations in DEPDC5 cause familial focal epilepsy with variable foci(2013)359 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay(2011)296 cited
- → Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation(2007)290 cited
- → PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome(2012)258 cited
- → Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy(2015)235 cited