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Andrew G. L. Douglas

Observed names: A Douglas, A. Douglas, A. G. L. Douglas, A.G.L. Douglas, Andrew Douglas, Andrew G L Douglas, Andrew G.L. Douglas, Andrew GL Douglas, Douglas, A., Douglas, Andrew G L, Douglas, Andrew G. L., Douglas, Andrew Graham Lim
Observed institutions: Salisbury District Hospital, Western General Hospital, Churchill Hospital, Southampton General Hospital, Princess Anne Hospital, Nottingham City Hospital, University Hospital Southampton NHS Foundation Trust, University of Oxford, Wessex Regional Genetics Laboratory, Genomics England, Oxford University Hospitals NHS Trust, University of Southampton, Salisbury NHS Foundation Trust
ORCID: 0000-0001-5154-6714
Observed ORCID: 0000-0001-5154-6714
OpenAlex ID: A5032288019
Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020 · Joanna Kaplanis, Kaitlin E. Samocha, et al. · Nature · 609
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C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
2016 · Ruxandra Dafinca, Jakub Scaber, et al. · Stem Cells · 233
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
2020 · Htoo A. Wai, Jenny Lord, et al. · Genetics in Medicine · 177
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C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
2017 · Yoshitsugu Aoki, Raquel Manzano, et al. · Brain · 159
RNA splicing: disease and therapy
2011 · A. G. L. Douglas, M. J. A. Wood · Briefings in Functional Genomics · 113
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Splicing therapy for neuromuscular disease
2013 · Andrew G.L. Douglas, Matthew J.A. Wood · Molecular and Cellular Neuroscience · 97
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair
2020 · Nidaa A Ababneh, Jakub Scaber, et al. · Human Molecular Genetics · 74
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The contribution of X-linked coding variation to severe developmental disorders
2021 · Hilary C. Martin, Eugene J. Gardner, et al. · Nature Communications · 67
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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
2020 · Gabrielle Wheway, Andrew Douglas, et al. · Experimental Eye Research · 67
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
2021 · Charlie Rowlands, Huw B. Thomas, et al. · Scientific Reports · 66
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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
2021 · Víctor Faundes, Martin D. Jennings, et al. · Nature Communications · 64
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Recurrent duplications of 17q12 associated with variable phenotypes
2015 · Elyse Mitchell, Andrew Douglas, et al. · American Journal of Medical Genetics Part A · 60
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
2022 · Alexander J. M. Blakes, Htoo A. Wai, et al. · Genome Medicine · 53
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
2019 · Philip J. Ostrowski, Anna Zachariou, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 53
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
2019 · Suzanna G.M. Frints, Friederike Hennig, et al. · Human Mutation · 46
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ADCY5-related dyskinesia presenting as familial myoclonus-dystonia
2017 · Andrew G. L. Douglas, Gaia Andreoletti, et al. · Neurogenetics · 41
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
2023 · Lydie Burglen, Evelien Van Hoeymissen, et al. · eLife · 36
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
2021 · William L. Macken, Annie Godwin, et al. · Genome Medicine · 35
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
2023 · Andrew G L Douglas, Diana Baralle · Journal of Medical Genetics · 34
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RNA splicing analysis in genomic medicine
2018 · Htoo Wai, Andrew G.L. Douglas, et al. · The International Journal of Biochemistry & Cell Biology · 32
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
2022 · Kari A Mattison, Gilles Tossing, et al. · Brain · 31
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
2021 · Zerin Hyder, Eduardo Calpena, et al. · Genetics in Medicine · 30
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
2020 · Anna Durkin, Shadi Albaba, et al. · American Journal of Medical Genetics Part A · 28
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Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
2024 · Carolina Jaramillo Oquendo, Htoo A. Wai, et al. · Genome Medicine · 27
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NovelDNM1Lvariants impair mitochondrial dynamics through divergent mechanisms
2022 · Kelsey A Nolden, John M Egner, et al. · Life Science Alliance · 24
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Works count: 80
Citation count: 2,491
H-index: 24
I10-index: 38
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