Cindy Colson

Lille, 59000, France

Last Updated: 09/26/2026

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Found 38 publications

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Journal: Human genomics

Published: December 02, 2025

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome.

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome.

Journal: Clinical endocrinology

Published: October 05, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Journal: Human genomics

Published: August 06, 2025

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Journal: Journal of stomatology, oral and maxillofacial surgery

Published: May 30, 2025

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Journal: Clinical genetics

Published: March 27, 2025

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 20, 2025

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Journal: Clinical genetics

Published: November 08, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Journal: European journal of human genetics : EJHG

Published: July 03, 2024

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Journal: Prenatal diagnosis

Published: October 19, 2023

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Last Updated: 09/26/2026