Kevin Uguen

Brest, France

Last Updated: 09/26/2026

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Found 31 publications

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Journal: Journal of medical genetics

Published: April 04, 2025

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Journal: Nature communications

Published: December 18, 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

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

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

Published: June 28, 2024

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Journal: Brain communications

Published: June 20, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

Journal: HGG advances

Published: March 13, 2024

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Journal: European journal of human genetics : EJHG

Published: February 22, 2024

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

Journal: HGG advances

Published: January 23, 2024

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

Journal: American journal of medical genetics. Part A

Published: October 10, 2023

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

Showing 1-12 of 31

Last Updated: 09/26/2026