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Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center.

Clinical genetics - 1 Jul 2026

Chaabouni Myriam, Miladi Najoua, Monastiri Kamel, Kraoua Ichraf, Mrabet Hela, Mrabet Amel, Bezzine Nedia BenAchour, Jabnoun Sami, Chouikh Fatma Zohra, Nouaili Nizar, Dabbabi Ali, Turki Ilhem, Farhat Emna, Bouhamed-Chaabouni Habiba

Abstract excerpt

Although exome sequencing (ES) is not widely implemented in some countries due to financial constraints, it represents an effective approach for the genetic diagnosis of neurodevelopmental disorders (NDDs). We report ES results from a North African cohort of 168 unrelated patients with NDDs referred for diagnostic testing. Patients were classified into three clinical categories: isolated NDDs (29%), NDDs...

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PMID: 41854122
DOI: 10.1111/cge.70164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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