David Moore

European Organisation for Rare Diseases — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.7kcitations53works3.52yr avg
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Research Topics

Genomics and Rare Diseases(13), Genomic variations and chromosomal abnormalities(11), Genetics and Neurodevelopmental Disorders(7), Estrogen and related hormone effects(6), Pharmacogenetics and Drug Metabolism(5)

Publications48 total

Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta
Calcified Tissue International·2025Open Access
Effects of Hyperoxia on Pulmonary Inflammation and organ injury in a human in vivo model (HIPI): study protocol of a randomised, double-blind, placebo-controlled trial
BMJ Open Respiratory Research·2025· 1 citedOpen Access
The ReAct project: Analysis of data from 23 different laboratories to characterise DNA recovery given two sets of activity level propositions
Forensic Science International Genetics·2025· 12 citedOpen Access
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis
The European Journal of Health Economics·2024· 1 citedOpen Access
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone
Annals of the Rheumatic Diseases·2023· 12 citedOpen Access
Regulatory de novo mutations underlying intellectual disability
Life Science Alliance·2023· 6 citedOpen Access
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing
European Journal of Human Genetics·2022· 11 citedOpen Access
Regulatory <i>de novo</i> mutations underlying intellectual disability
2022Open Access
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Genetics in Medicine·2021· 16 citedOpen Access
Homozygous <i>GDF2</i> nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children
Molecular Genetics & Genomic Medicine·2021· 37 citedOpen Access
The contribution of X-linked coding variation to severe developmental disorders
Nature Communications·2021· 63 citedOpen Access
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
PLoS Biology·2020· 43 citedOpen Access
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Nature·2020· 635 citedOpen Access
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
2020· 5 citedOpen Access
Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue
Cell Reports·2020· 71 citedOpen Access
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Nature Communications·2019· 161 citedOpen Access
<i>De novo</i> variants in population constrained fetal brain enhancers and intellectual disability
2019
VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants
2018Open Access
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption
Frontiers in Cellular Neuroscience·2018· 28 citedOpen Access
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome
Neurology·2017· 124 citedOpen Access
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Frequent Co-authors

David Fitzpatrick(7), Wayne Lam(7), Garth Powis(7), Alison Ross(5), Jonathan Berg(5), Andrew P. Jackson(5), Mary Porteous(5), Jonathan G. Moggs(5), Fei-Ling Lim(5), Ian Kimber(5), George M. Orphanides(5), David Parry(5), Caroline Clark(4), Zosia Miedzybrodzka(4), Marc Tischkowitz(4), David Goudie(4), Catherine McWilliam(4), Anne Lampe(4), H. Tinwell(4), John Ashby(4)