Author

Menelaos Pipis

UCL Queen Square Institute of NeurologyORCID 0000-0003-0511-6515Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Albena JordanovaiD· 1 shared Aleksandra TomićiD· 1 shared Bart GhesquièreiD· 1 shared Camila Armirola-RicaurteiD· 1 shared Derek AtkinsoniD· 1 shared Els De VriendtiD· 1 shared Henry HouldeniD· 1 shared Isabelle AdantiD· 1 shared

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2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albena JordanovaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 3, 2024

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant…·Albena Jordanova

This study identifies biallelic COX18 variants as a cause of autosomal recessive axonal CMT with peripheral neuropathy and potential central nervous system involvement.

3 citations

humanstatistical model

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