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Jean-Baptiste Rivière

8PUBLICATIONS

47CO-AUTHORS

Organic chemistry not elsewhere classifiedRegenerative medicine (incl. stem cells)Gene expression (incl. microarray and other genome-wide approaches)Anthropological geneticsMajor global burdens of disease

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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

Frequent Collaborators

4 joint publications

Paul Kuentz

4 joint publications

Arthur Sorlin

4 joint publications

Pierre Vabres

3 joint publications

M Elizabeth Ross

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