Author

Irina T. Zaharieva

Great Ormond Street HospitalORCID 0000-0002-7663-6297Unclaimed 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:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Francesco Muntoni AiD· 2 shared Volker W. StraubiD· 2 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alessandra FerliniiD· 1 shared Alexander HoischeniD· 1 shared Alice Flynn Ford· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Francesco Muntoni AORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 3, 2024

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German M. Demidov…·Alexander Hoischen

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

18 citations

humanwhole-genome sequencing

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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

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