Philippine Garret

Dijon, France

Last Updated: 09/26/2026

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Found 13 publications

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal: Journal of medical genetics

Published: January 29, 2023

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

Journal: European journal of human genetics : EJHG

Published: December 14, 2021

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

Journal: The pharmacogenomics journal

Published: June 03, 2021

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Journal: European journal of human genetics : EJHG

Published: March 15, 2021

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 03, 2021

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Journal: Journal of medical genetics

Published: July 24, 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Journal: Nature genetics

Published: February 09, 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Journal: Nature genetics

Published: October 16, 2019

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Journal: Clinical genetics

Published: September 17, 2019

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 08, 2019

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Journal: Human mutation

Published: January 05, 2019

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 10, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026