Author

Laila Bouguenouch

Centre Hospitalier Universitaire Hassan IIORCID 0000-0002-4082-5432Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander NateriD· 1 shared Alexandre BokhobzaiD· 1 shared Anne-Flore HämmerliiD· 1 shared Badreddine ElmakhzeniD· 1 shared Christiane ZweieriD· 1 shared Hugues AbrieliD· 1 shared Javier SanziD· 1 shared Jean‐Sébastien RougieriD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander NaterORCID

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2 papers

Recent·Most cited

CFTR Gene Variant Detection in Moroccan Individuals via Nanopore Long-Read Sequencing

Nada El Makhzen, Alexander Nater, Jean‐Sébastien Rougier, Alexandre Bokhobza, Javier Sanz, Christiane Zweier, Anne-Flore Hämmerli, Rémy Bruggmann, Laila Bouguenouch, Mounia Lakhdar Idrissi, Hugues Abriel

This paper uses nanopore long-read sequencing to detect CFTR variants in Moroccan individuals, identifying new pathogenic variants and demonstrating the utility of the method for genetic screening in African populations.

Frontiers in Genetics · Mar 24, 2026Peer-reviewedGenetic & Genomic Medicine

The First Report of a Homozygous TUBG1 Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative Effect

Badreddine Elmakhzen, Yongjun Song, Oussama Kettani, Yasser Ali El Asri, Zineb Rchiad, Laila Bouguenouch, Omar Askander

This paper reports the first case of a homozygous TUBG1 splice variant in two siblings with tubulinopathy symptoms, expanding the known mutational spectrum and suggesting a recessive inheritance mechanism.

medRxiv · Mar 11, 2025 · PreprintGenetic & Genomic Medicine