Denise M. Horn
Berlin, BE, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 156 publications
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.
Journal: Journal of medical genetics
Published: January 14, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: August 04, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.
Journal: Molecular cytogenetics
Published: February 11, 2025
Functional analyses of splice site variants in TCF12.
Journal: Human genomics
Published: February 07, 2025
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.
Journal: Molecular genetics & genomic medicine
Published: March 18, 2024
Actinium isotope cross sections for 226Ra(p,xn) reactions measured at low energies.
Journal: Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine
Published: March 14, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Journal: American journal of medical genetics. Part A
Published: January 22, 2024
The importance of routine genetic testing in pediatric epilepsy surgery.
Journal: Epilepsia open
Published: September 21, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Last Updated: 09/26/2026