Alastair H MacLennan
Overview
Explore the profile of Alastair H MacLennan including associated specialties, affiliations and a list of published articles.
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81
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1153
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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.
Wang Y, Xu Y, Zhou C, Cheng Y, Qiao N, Shang Q, et al.
Nat Med
. 2024 May;
30(5):1395-1405.
PMID: 38693247
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a...
3.
van Eyk C, MacLennan S, MacLennan A
JAMA Pediatr
. 2023 Mar;
177(5):455-456.
PMID: 36877500
No abstract available.
4.
Kayumi S, Perez-Jurado L, Palomares M, Rangu S, Sheppard S, Chung W, et al.
Genet Med
. 2022 Sep;
24(11):2351-2366.
PMID: 36083290
Purpose: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP)....
5.
Martin M, Hill C, Bewley S, MacLennan A, Braillon A
Birth Defects Res
. 2021 Dec;
114(1):13-16.
PMID: 34866359
Background: Valproate use during pregnancy increases risk in malformations and neurodevelopmental disorders. Data from the experimental setting in mice showed valproate is a direct inhibitor of histone deacetylase, inducing histone...
6.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
7.
8.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2021 Jan;
53(3):412.
PMID: 33432185
No abstract available.
9.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2020 Sep;
52(10):1046-1056.
PMID: 32989326
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in...
10.
Pham R, Mol B, Gecz J, MacLennan A, MacLennan S, Corbett M, et al.
Dev Med Child Neurol
. 2020 Jun;
62(9):1024-1030.
PMID: 32542675
Aim: To conduct a systematic review of phenotypic definition and case ascertainment in published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of such studies. Method:...