Claire Feger

Strasbourg, France

Last Updated: 09/26/2026

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Found 12 publications

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Journal: Nature communications

Published: September 17, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

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

Published: January 26, 2021

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Journal: American journal of medical genetics. Part A

Published: November 07, 2020

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Journal: Human mutation

Published: January 08, 2019

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Journal: European journal of human genetics : EJHG

Published: June 08, 2017

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Journal: European journal of human genetics : EJHG

Published: September 21, 2016

Data set for describing the elaboration of a compatible Gateway-based co-expression vector set and supporting its validation.

Data set for describing the elaboration of a compatible Gateway-based co-expression vector set and supporting its validation.

Journal: Data in brief

Published: August 22, 2016

Construction of a compatible Gateway-based co-expression vector set for expressing multiprotein complexes in E. coli.

Construction of a compatible Gateway-based co-expression vector set for expressing multiprotein complexes in E. coli.

Journal: Analytical biochemistry

Published: June 27, 2016

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Journal: Journal of medical genetics

Published: August 30, 2014

An integrated diagnosis strategy for congenital myopathies.

An integrated diagnosis strategy for congenital myopathies.

Journal: PloS one

Published: November 16, 2012

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Journal: American journal of human genetics

Published: September 11, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026