Author

Ramy Saad

Great Ormond Street HospitalORCID 0000-0003-3985-0697Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Assay:imaging· 1 Assay:metabolomics· 1

Frequent Co-Authors

Cristina DiasiD· 2 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared Alexej KnausiD· 1 shared Alison M. MaleiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amal Mohamed· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

Cristina DiasORCID

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3 papers

Recent·Most cited

GeneticsAgingPeer-reviewedDec 10, 2025

Theobromine is Associated with Slower Epigenetic Ageing

Ramy Saad, Ricardo Costeira, Pamela R. Matías‐García…·Jordana T. Bell

The paper finds that higher serum theobromine levels are associated with slower epigenetic ageing in humans, as measured by GrimAge and DNAmTL.

1 citation

humanmetabolomics

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Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 6, 2023

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

28 citations

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