Author

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

Brunelle, Perrine

Author Metrics

Top Publications

Top Publications Authored or Co-Authored by "Brunelle, Perrine"

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Orphanet Journal of Rare Diseases, Volume 10, No. 1, Article 135, Year 2015, Citations 54
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Journal of Medical Genetics, Volume 55, No. 4, Year 2018, Citations 53
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
Journal of Bone and Mineral Research, Volume 35, No. 8, Year 2020, Citations 28

Institutional Spectrum

Most Recent Affiliations

Institution	Country	Start Year	End Year	Affiliated Years
CHU Lille	France	2019	2023	5
Maladies RAres du Developpement Embryonnaire et du Metabolisme: du Phénotype au Génotype et à la Fonction RADEME	France	2020	2023	4
Université de Lille	France	2020	2023	4
Hôpital Necker Enfants Malades	France	2018	2020	3
l'Institut des Maladies Génétiques Imagine	France	2018	2020	3
Université Paris Cité	France	2018	2020	3
Clinique de Genetique Medicale	France	2020	2020	1
AP-HP Assistance Publique - Hopitaux de Paris	France	2020	2020	1
CHU de Nantes	France	2015	2015	1

Disclaimer

All information and calculations provided are based on our current indexed publications and may change as more data is collected.

African Research Nexus

The African Research Nexus is a visionary initiative that seeks to increase the visibility of African Researchers and Institutions. We are a dynamic hub designed to transform the African research landscape and amplify the voices of our continent’s brightest minds.

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