Alexej A. Knaus
Bonn, NW, Germany
Last Updated: 09/26/2026
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Found 45 publications
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 19, 2025
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 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
PIGC-related encephalopathy: Lessons learned from 18 new probands.
Journal: European journal of human genetics : EJHG
Published: January 19, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.
Journal: Scientific reports
Published: May 24, 2024
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
REEV: review, evaluate and explain variants.
Journal: Nucleic acids research
Published: February 13, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Journal: American journal of medical genetics. Part A
Published: February 08, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
Journal: Genes
Published: February 06, 2024
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