Author

Pinki Munot

Great Ormond Street HospitalORCID 0000-0001-9900-798XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Adnan Yousaf Manzur· 2 shared Rebecca BuchertiD· 2 shared Tobias B. HaackiD· 2 shared Adam JacksoniD· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alexander J. M. BlakesiD· 1 shared Alice Flynn Ford· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adnan Yousaf Manzur

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 4, 2024

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

DOI 10.1101/2024.10.04.24314535

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 28, 2022

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

44 citations

humanexperimental assay

𝕏 PostBluesky