Marc Planes

Brest, France

Last Updated: 09/26/2026

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Found 22 publications

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science

Published: February 13, 2026

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: medRxiv : the preprint server for health sciences

Published: September 15, 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

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.

Journal: NPJ Parkinson's disease

Published: March 11, 2025

SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.

SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.

Journal: Human reproduction (Oxford, England)

Published: January 21, 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

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

Journal: Human mutation

Published: November 29, 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

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Journal: Clinical genetics

Published: May 03, 2024

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Journal: Epilepsia

Published: March 29, 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

Atopic dermatitis in 15q24 microdeletion syndrome: a social media study.

Atopic dermatitis in 15q24 microdeletion syndrome: a social media study.

Journal: European journal of dermatology : EJD

Published: July 11, 2023

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Last Updated: 09/26/2026