Author

Inès Harzallah

Centre Hospitalier Universitaire de Saint-ÉtienneORCID 0000-0002-3413-2429Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Assay:proteomics· 1

Frequent Co-Authors

Renaud L. TouraineiD· 3 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Alice DoreilleiD· 1 shared Amal Mohammed AlhashemiD· 1 shared André EX BrowniD· 1 shared Anna WredenbergiD· 1 shared Annalaura TorellaiD· 1 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Renaud L. TouraineORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 17, 2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson…·Marco Savarese

The paper investigates ACTN2 variants causing distal myopathy and hypertrophic cardiomyopathy, finding that frameshift variants leading to protein extension cause aggregation, while missense variants do not.

2 citations

humanproteomics

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 22, 2022

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

Quentin Testard, Xavier Vanhoye, Kévin Yauy…·Julien Thévenon

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

47 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

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