Nadja Ehmke
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 42 publications
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 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
Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
Journal: Movement disorders clinical practice
Published: May 03, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Journal: Nature
Published: August 20, 2024
REEV: review, evaluate and explain variants.
Journal: Nucleic acids research
Published: February 13, 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
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Journal: Human genetics
Published: November 30, 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
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: July 19, 2023
Last Updated: 09/26/2026