Concepedia
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Publications
67
Citations
5.9K
H-Index
37
Active since
2002
Affiliations
Université de Bourgogne(Current)
CHU Dijon Bourgogne
Inserm
Hôpital d'Enfants
Assistance Publique – Hôpitaux de Paris
Jean‐Baptiste Rivière is an author at Université de Bourgogne specializing in genetics, life sciences, and genetic disorders.
Publications per year
2002–2023
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak et al. · Brain · 2015 · 365 citations · Full text
Medicine, Genetics, Molecular Genetics +17
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett et al. · Journal of Clinical Investigation · 2018 · 286 citations · Full text
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
Heidi Howard, David B. Mount, Daniel Rochefort et al. · Nature Genetics · 2002 · 278 citations
Medicine, Neurology, Neuroscience +16
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations
Life Sciences, Genetics, Molecular Genetics +17
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