Author

Susana Quijano-Roy

Hôpital Raymond-PoincaréORCID 0000-0002-8503-6111Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:CRISPR screen· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Norma Beatriz RomeroiD· 2 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alice Flynn Ford· 1 shared Alice KusteriD· 1 shared Ana TöpfiD· 1 shared Andrea KleiniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersNeuroscience

Norma Beatriz RomeroORCID

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2 papers

Recent·Most cited

NeuroscienceMolecular Therapy — Nucleic AcidsPeer-reviewedJun 17, 2024

Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation

Mathilde Beaufils, Margaux Melka, Julie Brocard…·Isabelle Marty

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

6 citations

humanCRISPR screen

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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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