Mark A Corbett
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Explore the profile of Mark A Corbett including associated specialties, affiliations and a list of published articles.
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64
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1655
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Recent Articles
1.
McRae H, Leong M, Bergamasco M, Garnham A, Hu Y, Corbett M, et al.
PLoS Genet
. 2024 Oct;
20(10):e1011428.
PMID: 39405291
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability and endocrine disorder caused by pathogenic variants of plant homeodomain finger gene 6 (PHF6). An understanding of the role of PHF6 in...
2.
Chey Y, Corbett M, Arudkumar J, Piltz S, Thomas P, Adikusuma F
BMC Biol
. 2024 Sep;
22(1):214.
PMID: 39334101
Background: The development of sequence-specific precision treatments like CRISPR gene editing therapies for Duchenne muscular dystrophy (DMD) requires sequence humanized animal models to enable the direct clinical translation of tested...
3.
Nicolas-Martinez E, Robinson O, Pflueger C, Gardner A, Corbett M, Ritchie T, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1673-1699.
PMID: 39084224
Understanding the impact of splicing and nonsense variants on RNA is crucial for the resolution of variant classification as well as their suitability for precision medicine interventions. This is primarily...
4.
Sandran N, Fornarino D, Corbett M, Kroes T, Gardner A, MacLennan A, et al.
Genet Med
. 2024 Jul;
26(10):101220.
PMID: 39041334
Purpose: The gold standard for identification of post-zygotic variants (PZVs) is droplet digital polymerase chain reaction or high-depth sequencing across multiple tissues types. These approaches are yet to be systematically...
5.
Bhattacharjee R, Jolly L, Corbett M, Wee I, Rao S, Gardner A, et al.
Nat Commun
. 2024 Feb;
15(1):1210.
PMID: 38331934
We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype....
6.
Shepherdson J, Hutchison K, Wellalage Don D, McGillivray G, Choi T, Allan C, et al.
Am J Hum Genet
. 2024 Feb;
111(3):487-508.
PMID: 38325380
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked...
7.
Dias K, Shrestha R, Schofield D, Evans C, OHeir E, Zhu Y, et al.
Genet Med
. 2024 Jan;
26(5):101076.
PMID: 38258669
Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. Methods: ES, GS, epigenetic signatures, and long-read sequencing...
8.
Morgan A, Scerri T, Vogel A, Reid C, Quach M, Jackson V, et al.
Brain
. 2023 Nov;
146(12):5086-5097.
PMID: 37977818
Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated...
9.
Ha T, Burgess R, Newman M, Moey C, Mandelstam S, Gardner A, et al.
Genes (Basel)
. 2023 Aug;
14(8).
PMID: 37628618
Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of...
10.
Corbett M, Depienne C, Veneziano L, Klein K, Brancati F, Guerrini R, et al.
Epilepsia
. 2023 Apr;
64 Suppl 1:S14-S21.
PMID: 37021642
Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic...