19 Mar 2026
Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic CenterPublisher siteClinical Genetics, Genomics and Rare Diseases
Active, last published 2026
In genomic variations and chromosomal abnormalities
Myriam
Châabouni
Scholar“Research focused on Genomic variations and chromosomal abnormalities and adjacent fields.”
University of Tunis El Manar
Tunisia
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01 · About the work
What I study
yriam Châabouni is a researcher working on Genomic variations and chromosomal abnormalities. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Myriam's work has been cited 467 times across 2 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Genomic variations and chromosomal abnormalities×7Lysosomal Storage Disorders Research×5Prenatal Screening and Diagnostics×4Connexins and lens biology×4Ocular Disorders and Treatments×4
04 · Where I am
Affiliations
Affiliation on published researchTunis University, TunisiaDrawn from the institution listed on this researcher’s published work.
05 · Selected work
Recent publications
2 works24 Jun 2025Open access
Novel missense variants in <i>CFL2</i> affect F-actin depolymerisation and expand the disease spectrum of <i>CFL2</i>-related myopathyPublisher siteHuman Molecular Genetics, Cardiomyopathy and Myosin Studies
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