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» Authors » Meriel McEntagart

Meriel McEntagart

Explore the profile of Meriel McEntagart including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 60
Citations 1457
Followers 0
Related Specialties
Genetics
Neurology
Biology
Top 10 Co-Authors
Jill Clayton-Smith
Siddharth Banka
Henry Houlden
Mohnish Suri
I Karen Temple
Shelagh Joss
Michael J Parker
Diana S Johnson
Bronwyn Kerr
Ruth Newbury-Ecob
Published In
Am J Hum Genet
Genet Med
Am J Med Genet A
Eur J Hum Genet
Hum Mutat
Affiliations
Soon will be listed here.
Recent Articles
1.
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, et al.
Eur J Hum Genet . 2024 Nov; PMID: 39496896
Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In...
2.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet . 2024 May; 111(6):1140-1164. PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
3.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Chelban V, Aksnes H, Maroofian R, LaMonica L, Seabra L, Siggervag A, et al.
Nat Commun . 2024 Mar; 15(1):2269. PMID: 38480682
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to...
4.
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
Matthews E, Whittle E, Khan F, McEntagart M, Carroll C
J Hum Genet . 2024 Feb; 69(6):283-285. PMID: 38374165
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia...
5.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Tolonen J, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, et al.
Mov Disord . 2023 Nov; 39(1):141-151. PMID: 37964426
Background: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP ) receptor type 1 (IP R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital...
6.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Di Feo M, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, et al.
J Med Genet . 2023 Mar; 60(9):866-873. PMID: 36977548
Background: Titin truncating variants (TTNtvs) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity, they cause a wide spectrum of recessive phenotypes with...
7.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
Leonardi E, Aspromonte M, Drongitis D, Bettella E, Verrillo L, Polli R, et al.
Eur J Hum Genet . 2022 Nov; 31(2):202-215. PMID: 36434256
Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the...
8.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, et al.
Genet Med . 2022 Nov; 25(1):76-89. PMID: 36331550
Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants. Methods: We carried out...
9.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Thomas Q, Motta M, Gautier T, Zaki M, Ciolfi A, Paccaud J, et al.
Am J Hum Genet . 2022 Aug; 109(10):1909-1922. PMID: 36044892
The transmembrane protein TMEM147 has a dual function: first at the nuclear envelope, where it anchors lamin B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum...
10.
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
Sanderson S, Lewis C, Hill M, Peter M, McEntagart M, Gale D, et al.
Genet Med . 2021 Dec; 24(1):61-74. PMID: 34906473
Purpose: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis. Methods: This study involved a...