Veronique Darmency

Dijon, France

Last Updated: 09/26/2026

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Found 13 publications

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Journal: Molecular autism

Published: March 23, 2025

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Journal: Clinical genetics

Published: September 06, 2023

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Journal: American journal of medical genetics. Part A

Published: February 18, 2022

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Journal: Molecular genetics and metabolism reports

Published: July 29, 2021

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

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

Published: July 14, 2021

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.

Journal: Clinical genetics

Published: June 13, 2021

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

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

Published: October 02, 2020

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Journal: European journal of medical genetics

Published: April 22, 2020

Correction: The landscape of epilepsy-related GATOR1 variants.

Correction: The landscape of epilepsy-related GATOR1 variants.

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

Published: September 29, 2018

Correction to: The landscape of epilepsy-related GATOR1 variants.

Correction to: The landscape of epilepsy-related GATOR1 variants.

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

Published: August 31, 2018

The landscape of epilepsy-related GATOR1 variants.

The landscape of epilepsy-related GATOR1 variants.

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

Published: February 01, 2018

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Journal: American journal of medical genetics. Part A

Published: August 07, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026