Meriel McEntagart

St George's, University of London — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index4.1kcitations77works10.12yr avg
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Research Topics

Genomics and Rare Diseases(26), Genetics and Neurodevelopmental Disorders(22), Genomic variations and chromosomal abnormalities(9), Congenital heart defects research(9), RNA Research and Splicing(7)

Publications62 total

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Genetics in Medicine·2025· 3 citedOpen Access
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing
Genetics in Medicine·2025· 1 citedOpen Access
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
2025Open Access
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Human Mutation·2025· 1 citedOpen Access
P762: Empowering geneticists to do genomic reanalysis routinely
Genetics in Medicine Open·2025· 1 citedOpen Access
“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project
European Journal of Human Genetics·2024· 6 citedOpen Access
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
The American Journal of Human Genetics·2024· 28 citedOpen Access
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Nature Communications·2024· 41 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Movement Disorders·2023· 13 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 citedOpen Access
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics·2023· 18 citedOpen Access
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications·2023· 21 citedOpen Access
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
The American Journal of Human Genetics·2023· 39 citedOpen Access
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
European Journal of Human Genetics·2022· 19 citedOpen Access
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Genetics in Medicine·2022· 25 citedOpen Access
Mendelian gene identification through mouse embryo viability screening
Genome Medicine·2022· 14 citedOpen Access
Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
2022· 2 citedOpen Access
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
The American Journal of Human Genetics·2022· 9 citedOpen Access
eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings
Genetics in Medicine·2022
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Frequent Co-authors

Siddharth Banka(10), Jill Clayton‐Smith(10), Diana Johnson(7), John C. Ambrose(7), Marta Bleda(7), F. Boardman-Pretty(7), C. R. Boustred(7), Helen Brittain(7), Mark J. Caulfield(7), G. C. Chan(7), Angela Hamblin(7), Tim Hubbard(7), Dalia Kasperavičiūtė(7), Melis Kayikci(7), L. Lahnstein(7), S. E. A. Leigh(7), F. Maleady-Crowe(7), Loukas Moutsianas(7), Nirupa Murugaesu(7), Anna C. Need(7)