Philippine Garret
9PUBLICATIONS
34CO-AUTHORS
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Publications (9)
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|Aug 16, 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel
|Nov 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.Philippine Garret, Martin Chevarin, Antonio Vitobello
|Nov 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso
|Feb 09, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh
|Jan 31, 2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq
|Oct 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh
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Frequent Collaborators
5 joint publications
Antonio Vitobello
5 joint publications
Ange-Line Bruel
5 joint publications
Arthur Sorlin
4 joint publications
Pierre Vabres
3 joint publications
Paul Kuentz
3 joint publications
Alain Bron
3 joint publications
M Elizabeth Ross
3 joint publications
Christel Thauvin-Robinet
3 joint publications
Christophe Philippe
3 joint publications
Laurence Faivre
