Author

Annamaria Molon

Assistance Publique Hôpitaux de Marseille

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aurélien PerriniD· 1 shared Cécile AcquavivaiD· 1 shared Corinne MétayiD· 1 shared Damien SternbergiD· 1 shared Emmanuelle Pion· 1 shared Emmanuelle Salort‐CampanaiD· 1 shared Francois Michael PetitiD· 1 shared Gisèle BonneiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aurélien PerrinORCID

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1 paper

Recent·Most cited

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva, Corinne Métay, Isabelle Richard, Mathieu Cérino, Mathieu Milh, Emmanuelle Salort‐Campana, Svetlana Gorokhova, Nicolas Lévy, , Mireille Cossée

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

International Journal of Molecular Sciences · Jul 31, 2022Peer-reviewedGenetic & Genomic Medicine