List of works - Mark A Corbett

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

scientific article published in 2024

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review ⬇️

scientific article published on 06 May 2013

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

scientific article published on 15 June 2020

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

scientific article published on 31 May 2019

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

scientific article published on 16 March 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Missense variant contribution to USP9X-female syndrome

scientific article published on 09 December 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

scientific article published on 28 September 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

scientific article published on 04 November 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3