Simon Ramsden

Manchester University NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index5.1kcitations116works2.02yr avg
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Research Topics

Retinal Development and Disorders(30), Genomics and Rare Diseases(23), Retinal Diseases and Treatments(13), Ocular Disorders and Treatments(13), Genetics and Neurodevelopmental Disorders(12)

Publications115 total

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
European Journal of Human Genetics·2024· 2 citedOpen Access
Using computational approaches to enhance the interpretation of missense variants in the <i>PAX6</i> gene
2023· 1 citedOpen Access
A multilayered approach to the analysis of genetic data from individuals with suspected albinism
Journal of Medical Genetics·2023· 7 citedOpen Access
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Journal of Medical Genetics·2023· 8 citedOpen Access
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
Journal of Molecular Diagnostics·2022· 4 citedOpen Access
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Genome Medicine·2022· 236 citedOpen Access
Contributors
Elsevier eBooks·2022
Genetic variant interpretation
Elsevier eBooks·2022
Additional file 1 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Figshare·2022Open Access
Contributors
Elsevier eBooks·2022
Genomic education and training for clinical laboratory workforce
Elsevier eBooks·2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
2021· 15 citedOpen Access
Embryonal sarcoma of the liver in a girl with Cockayne syndrome
Clinical Genetics·2021· 1 citedOpen Access
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
Human Mutation·2021· 15 citedOpen Access
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Scientific Reports·2021· 63 citedOpen Access
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
2021· 1 citedOpen Access
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
2021· 2 citedOpen Access
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Journal of Medical Genetics·2021· 8 citedOpen Access
Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
Research Square (Research Square)·2021· 7 citedOpen Access
Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome
Brain Communications·2021· 15 citedOpen Access
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Frequent Co-authors

Graeme C. Black(26), Jamie M. Ellingford(12), Panagiotis I. Sergouniotis(12), Georgina Hall(12), Jill Clayton‐Smith(11), Andrew R. Webster(10), Stephanie Barton(9), Sanjeev S. Bhaskar(8), William G. Newman(6), James O’Sullivan(6), Rachel L. Taylor(6), Susan M. Downes(6), Jane Ashworth(5), Susmito Biswas(5), Anna O’Grady(5), Christopher Campbell(5), Michel Michaelides(5), Gavin Arno(5), Sofia Douzgou(5), Jenny Lord(4)