Nadia Bahi‐Buisson

Hôpital Necker-Enfants Malades — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

56h-index13.0kcitations266works3.22yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(102), Fetal and Pediatric Neurological Disorders(42), Epilepsy research and treatment(34), Genomics and Rare Diseases(33), Genomic variations and chromosomal abnormalities(32)

Publications264 total

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach
European Journal of Paediatric Neurology·2025
Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome
Journal of Neurodevelopmental Disorders·2025Open Access
Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids
Nature Communications·2025Open Access
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
2025· 3 citedOpen Access
The Two Faces of Pediatric <scp>SCA2</scp>
European Journal of Neurology·2025· 1 citedOpen Access
Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical morphogenesis
Development·2025· 2 citedOpen Access
<scp>STARDEV</scp> Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia
Movement Disorders Clinical Practice·2025Open Access
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study
Orphanet Journal of Rare Diseases·2025Open Access
Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome
2025Open Access
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
BMJ Open·2024· 4 citedOpen Access
Differential contribution of P73 <sup>+</sup> Cajal-Retzius cells and Reelin to cortical morphogenesis
2024· 1 citedOpen Access
Prenatal assessment of brain malformations on neuroimaging: an expert panel review
Brain·2024· 13 citedOpen Access
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
Journal of Clinical Investigation·2024· 8 citedOpen Access
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial
European Journal of Paediatric Neurology·2024· 15 citedOpen Access
Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy
European Journal of Neurology·2024· 4 citedOpen Access
A Phase II double-blind multi-center, placebocontrolled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM trial
SPIRE - Sciences Po Institutional REpository·2024
Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up
Epilepsia·2023· 24 citedOpen Access
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size
Cells·2023· 19 citedOpen Access
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry
Orphanet Journal of Rare Diseases·2023· 19 citedOpen Access
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture
Neurobiology of Disease·2023· 8 citedOpen Access
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Frequent Co-authors

Nathalie Boddaert(17), Karine Poirier(13), Jamel Chelly(12), Marlène Rio(10), Thierry Bienvenu(9), Isabelle Desguerre(7), Rima Nabbout(7), Yoann Saillour(7), Chérif Beldjord(7), Bertrand Isidor(5), Stéphanie Valence(5), Vincent des Portes(5), Fiona Francis(5), Alexandra Afenjar(5), Delphine Héron(5), Agathe Roubertie(5), Arnold Münnich(5), Nicolas Lebrun(4), Guoling Tian(4), Didier Lacombe(4)