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Frédéric Brioude

Affiliation : Inserm · Hôpital Armand-Trousseau · Assistance Publique – Hôpitaux de Paris · Centre de Recherche Saint-Antoine

2Publications (affiliation in France)
136Total publications
3615Citations
29h-index

ORCID OpenAlex

Research profile

Frédéric Brioude has 2 indexed publications (2017–2019). Their work appears mainly in “Human Mutation” and “European Journal of Human Genetics”. Their most cited article, “CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays” (2017), has been cited 13 times. Their work is co-authored with at least 12 researchers.

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Research areas

Genetic Syndromes and Imprinting
Genomic variations and chromosomal abnormalities
Birth, Development, and Health
Genomics and Rare Diseases
Growth Hormone and Insulin-like Growth Factors

Publications (2)

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
2019 · Human Mutation · cited 12 times
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
2017 · European Journal of Human Genetics · cited 13 times

Publication venues

Human Mutation × 1
European Journal of Human Genetics × 1

Publications per year

20191
20171

Collaborations

Partner institutions : Sorbonne Université · Maladies génétiques d’expression pédiatrique · Hôpital Necker-Enfants Malades · Centre Hospitalier Universitaire de Poitiers · Institut des Maladies Génétiques Imagine

Co-authors

Bibliographic data from OpenAlex (open database).