Author

Alison M. Male

Great Ormond Street HospitalORCID 0000-0002-2631-5997Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abucar Mohamed· 1 shared Aloysius DomingoiD· 1 shared Amir BahreiniiD· 1 shared Amjad Ullah KhaniD· 1 shared Amy E. Crunk· 1 shared Ana Cristina Victorino KrepischiiD· 1 shared Andrée Delahaye‐DurieziD· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abucar Mohamed

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 28, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip M. Boone, Serkan Erdin, Abucar Mohamed…·Ilaria Parenti

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

DOI 10.64898/2026.02.23.26346364

humanexperimental assay

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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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