Audrey Schalk

Strasbourg, France

Last Updated: 09/26/2026

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Found 19 publications

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics

Published: May 21, 2026

Acute Post-Partum Psychosis and Dystonia Reveals Late-Onset MPAN.

Acute Post-Partum Psychosis and Dystonia Reveals Late-Onset MPAN.

Journal: Movement disorders clinical practice

Published: January 06, 2026

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Journal: Human mutation

Published: July 17, 2025

Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.

Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.

Journal: Forensic science international. Genetics

Published: July 01, 2025

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Journal: Pediatric neurology

Published: January 04, 2024

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Journal: Journal of neurology

Published: December 20, 2023

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 18, 2023

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.

Journal: Gene

Published: August 21, 2023

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

Journal: Forensic science international. Genetics

Published: July 20, 2023

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 07, 2023

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.

Journal: Movement disorders clinical practice

Published: August 05, 2022

Showing 1-12 of 19

Last Updated: 09/26/2026