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Cureus|September 22, 2025
A De Novo 13q21.33-q31.1 Interstitial Deletion in a Child With Megalocornea and Neurodevelopmental Delay: A Clinico-Genomic CorrelationBadreddine Elmakhzen, Ayoub Nedbour, Laila Bouguenouch, et al.
Molecular Biology Reports|December 1, 2024
Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilitiesBadreddine Elmakhzen, Laila Bouguenouch, Kettani Oussama, et al.
Gene|May 14, 2025
Neurogenomics challenges and opportunities in MoroccoYoussef Razouqi, Hassan El-Abid, Badreddine Elmakhzen, et al.
Epigenomes|April 24, 2026
Novel Perspectives on ATP8A2 Regulation: Evidence for Parental Imprinting and Chimeric Transcript FormationAbdelhamid Bouramtane, Badreddine Elmakhzen, Amal Ouskri, et al.
International Journal of Immunogenetics|November 20, 2025
Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic ReviewAbdelhamid Bouramtane, Badreddine Elmakhzen, Hinde Elmouhi, et al.
BMJ Neurology Open|September 26, 2025
Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan FamilyHinde El Mouhi, Badreddine Elmakhzen, Amina Bouyahyaoui, et al.
The Journal of Molecular Diagnostics : JMD|June 19, 2026
Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent AnalysisNada El Makhzen, Brahim El Hejjioui, Badreddine ElMakhzen, et al.
Molecular Genetics & Genomic Medicine|May 15, 2025
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 geneBadreddine Elmakhzen, Paul Rollier, Clémence Saillard, et al.
Clinical and Experimental Reproductive Medicine|May 7, 2026
Prevalence and spectrum of AZFc copy number variations in infertile Moroccan menSaadia Amasdl, Said Trhanint, Mohamed Ahakoud, et al.
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