Jean-Baptiste Rivière
8PUBLICATIONS
47CO-AUTHORS
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Publications (8)
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|Jul 10, 2024
Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.Zachary T Sentell, Zachary W Nurcombe, Lina Mougharbel
|Feb 09, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh
|Feb 02, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.Sophie Nambot, Laurence Faivre, Ghayda Mirzaa
|Oct 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh
|Oct 02, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh
|Jul 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois
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Frequent Collaborators
4 joint publications
Paul Kuentz
4 joint publications
Arthur Sorlin
4 joint publications
Pierre Vabres
3 joint publications
M Elizabeth Ross
3 joint publications
Philippine Garret
3 joint publications
Alain Bron
2 joint publications
Julien Thevenon
2 joint publications
Florence Petit
1 joint publications
Tae Joo Park
1 joint publications
Virginie Carmignac
