Fanny C. Kortum

Hamburg, HH 20246, Germany

Last Updated: 09/26/2026

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Found 56 publications

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics
Published: December 18, 2025

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Journal: American journal of medical genetics. Part A
Published: December 07, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics
Published: October 19, 2025

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements.

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements.

Journal: HGG advances
Published: April 28, 2025

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy.

Lower left ventricular ejection time in MYBPC3 variant carriers with overt or subclinical hypertrophic cardiomyopathy.

Journal: ESC heart failure
Published: January 20, 2025

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.

Journal: Seizure
Published: January 10, 2025

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Journal: PLoS genetics
Published: December 23, 2024

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Journal: European journal of human genetics : EJHG
Published: November 01, 2024

AUTS2-related syndrome: Insights from a large European cohort.

AUTS2-related syndrome: Insights from a large European cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024

Current treatment strategies for vitreomacular traction and macular holes: a survey of retinal specialists in Germany

Current treatment strategies for vitreomacular traction and macular holes: a survey of retinal specialists in Germany

Journal: Die Ophthalmologie
Published: February 06, 2024

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Journal: American journal of human genetics
Published: November 20, 2023
Showing 1-12 of 56

Last Updated: 09/26/2026