Alison E Gardner
Overview
Explore the profile of Alison E Gardner including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
19
Citations
542
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
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...
2.
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....
3.
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...
4.
Pham D, Pitman M, Kumar R, Jolly L, Schulz R, Gardner A, et al.
Hum Mutat
. 2021 Jun;
42(8):1030-1041.
PMID: 34082468
PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants in PCDH19 cause infantile-onset epilepsy known as PCDH19-clustering epilepsy or PCDH19-CE. Recent advances...
5.
Heron S, Regan B, Harris R, Gardner A, Coleman M, Bennett M, et al.
Neurology
. 2021 May;
96(18):e2251-e2260.
PMID: 34038384
Objective: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the...
6.
Field M, Kumar R, Hackett A, Kayumi S, Shoubridge C, Ewans L, et al.
Hum Mutat
. 2021 Apr;
42(7):835-847.
PMID: 33847015
The pioneering discovery research of X-linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately 30% of XLID families still remain unresolved. We postulated that noncoding variants...
7.
Jolly L, Parnell E, Gardner A, Corbett M, Perez-Jurado L, Shaw M, et al.
NPJ Genom Med
. 2020 Dec;
5(1):53.
PMID: 33298948
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial...
8.
Kumar R, Palmer E, Gardner A, Carroll R, Banka S, Abdelhadi O, et al.
Front Mol Neurosci
. 2020 Mar;
13:12.
PMID: 32116545
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective variants...
9.
Corbett M, van Eyk C, Webber D, Bent S, Newman M, Harper K, et al.
NPJ Genom Med
. 2019 Jun;
4:11.
PMID: 31231543
[This corrects the article DOI: 10.1038/s41525-018-0073-4.].
10.
Corbett M, van Eyk C, Webber D, Bent S, Newman M, Harper K, et al.
NPJ Genom Med
. 2018 Dec;
3:33.
PMID: 30564460
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single...