Cathrine Jespersgaard

Copenhagen, 2100, Denmark

Last Updated: 09/26/2026

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Found 22 publications

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins.

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins.

Journal: Genes
Published: November 13, 2025

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Journal: Human molecular genetics
Published: May 02, 2024

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Journal: Genes
Published: September 28, 2020

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Journal: Investigative ophthalmology & visual science
Published: February 22, 2020

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Journal: Clinical genetics
Published: August 29, 2018

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Journal: Scientific reports
Published: August 24, 2018

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Journal: PLoS genetics
Published: June 25, 2018

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Journal: Scientific reports
Published: May 23, 2018

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.

Journal: Pain
Published: February 23, 2018

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Journal: Clinical genetics
Published: September 04, 2017

Phenotypes and genotypes in individuals with SMC1A variants.

Phenotypes and genotypes in individuals with SMC1A variants.

Journal: American journal of medical genetics. Part A
Published: January 11, 2017

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Journal: Clinical genetics
Published: July 13, 2016
Showing 1-12 of 22

Last Updated: 09/26/2026