https://hakim.bouazzaoui.fr/publications/Recent content in Publications on Hakim BouazzaouiHugoen-USCopyright Hakim Bouazzaoui. Tous droits réservés sauf mention contraire.Wed, 11 Mar 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/mobideep-ai-meta-score-non-coding-variants/Wed, 11 Mar 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/mobideep-ai-meta-score-non-coding-variants/<p>Preprint about <a href="https://hakim.bouazzaoui.fr/projects/mobideep/">MobiDeep</a>, an artificial intelligence meta-score designed to improve prioritization of non-coding variants in whole-genome sequencing data.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.21203/rs.3.rs-8823759/v1">10.21203/rs.3.rs-8823759/v1</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/PPR/PPR1164933">PPR1164933</a></li> <li>Sciety: <a href="https://sciety.org/articles/activity/10.21203/rs.3.rs-8823759/v1">MobiDeep article activity</a></li> </ul>https://hakim.bouazzaoui.fr/publications/smarca4-eye-developmental-anomalies/Thu, 22 Jan 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/smarca4-eye-developmental-anomalies/<p>Contribution to an article expanding the phenotypic spectrum associated with loss-of-function SMARCA4 variants to ocular developmental anomalies.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1111/cge.70143">10.1111/cge.70143</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/41568967/">PMID 41568967</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/41568967">notice</a></li> </ul>https://hakim.bouazzaoui.fr/publications/epigen-network-epilepsy-genetic-diagnosis/Fri, 01 Aug 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/epigen-network-epilepsy-genetic-diagnosis/<p>Contribution to a French multicenter study on the clinical and genetic landscape of patients referred for genetic diagnosis of epilepsy.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1111/ene.70324">10.1111/ene.70324</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/40778729/">PMID 40778729</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/40778729">PMC12332890</a></li> </ul>https://hakim.bouazzaoui.fr/publications/tubb3-fetal-diagnosis-phenotypic-variability/Tue, 03 Dec 2024 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/tubb3-fetal-diagnosis-phenotypic-variability/<p>First-author article on a TUBB3 variant, fetal diagnosis and phenotypic variability within a single family.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1002/pd.6715">10.1002/pd.6715</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39625365/">PMID 39625365</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/39625365">PMC11717741</a></li> </ul>https://hakim.bouazzaoui.fr/publications/shox-retards-staturaux-cnv-sequencage/Wed, 27 Nov 2024 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/shox-retards-staturaux-cnv-sequencage/<p>Contribution to a retrospective multicenter study on short stature related to the SHOX gene, the role of CNVs and the contribution of sequencing.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1016/j.morpho.2024.100899">10.1016/j.morpho.2024.100899</a></li> <li>EM Consulte: <a href="https://www.em-consulte.com/article/1704080/retards-staturaux-lies-au-gene-shox-etude-retrospe">article page</a></li> </ul>https://hakim.bouazzaoui.fr/publications/amp-malformations-congenitales-sante-postnatale/Mon, 05 Sep 2022 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/amp-malformations-congenitales-sante-postnatale/<p>Article published in <em>Perinatalite</em> on assisted reproductive technology, congenital malformations and postnatal health.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.3166/rmp-2022-0155">10.3166/rmp-2022-0155</a></li> <li>Cairn: <a href="https://stm.cairn.info/revue-perinatalite-2022-2-page-77?lang=fr">article page</a></li> </ul>