Sophie Scheidecker

Strasbourg, France

Last Updated: 09/26/2026

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Found 37 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

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

Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome.

Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome.

Journal: Clinical parkinsonism & related disorders

Published: September 29, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

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

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Journal: European journal of human genetics : EJHG

Published: February 16, 2024

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

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

Journal: International journal of molecular sciences

Published: March 31, 2023

The AnnotSV webserver in 2023: updated visualization and ranking.

The AnnotSV webserver in 2023: updated visualization and ranking.

Journal: Nucleic acids research

Published: March 26, 2023

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Journal: Human mutation

Published: January 08, 2023

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.

Journal: Genes

Published: August 24, 2022

Showing 1-12 of 37

Last Updated: 09/26/2026