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Nadia Bahi‐Buisson

Hôpital Necker-Enfants Malades(FR)

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267

Papers

13.3K

Citations

57

h-index

178

i10-index

Nadia Bahi‐Buisson is an academic researcher from Hôpital Necker-Enfants Malades. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Fetal and Pediatric Neurological Disorders & Epilepsy research and treatment. The author has an h-index of 57, co-authored 227 publications.

ORCID: 0000-0002-5352-0929

Research Topics

Genetics and Neurodevelopmental Disorders Fetal and Pediatric Neurological Disorders Epilepsy research and treatment Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Papers by this author

works

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

2015 · American Journal of Medical Genetics Part A · 601 citations

https://doi.org/10.1002/ajmg.a.36887

Yanick J. Crow Diana Chase Johanna L. Schmidt Marcin Szynkiewicz

International consensus recommendations on the diagnostic work-up for malformations of cortical development

2020 · Nature Reviews Neurology · 133 citations

https://doi.org/10.1038/s41582-020-0395-6

Renske Oegema Tahsin Stefan Barakat Martina Wilke Katrien Stouffs

Myoclonus–dystonia

2008 · Neurology · 130 citations

https://doi.org/10.1212/01.wnl.0000297516.98574.c0

Emmanuel Roze Emmanuelle Apartis F. Clot Nathalie Dorison

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

2016 · Nature Genetics · 123 citations

https://doi.org/10.1038/ng.3676

Loïc Broix Hélène Jagline Ekaterina L. Ivanova

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

2016 · The American Journal of Human Genetics · 116 citations

https://doi.org/10.1016/j.ajhg.2016.03.010

Metodi D. Metodiev Kyle Thompson Charlotte L. Alston Andrew A. M. Morris

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia

2019 · Cell Reports · 46 citations

https://doi.org/10.1016/j.celrep.2019.06.096

Ana Uzquiano Carmen Cifuentes-Díaz Ammar Jabali Delfina M. Romero

Research topics

topics

Genetics and Neurodevelopmental Disorders

Fetal and Pediatric Neurological Disorders

Epilepsy research and treatment

Genomic variations and chromosomal abnormalities

Genomics and Rare Diseases

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