Alexej Knaus
12PUBLICATIONS
205CO-AUTHORS
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Publications (12)
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|Apr 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.Philip Harrer, Volker Kittke, Alice Saparov
|Sep 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.Allan Bayat, Maria Carla Borroto, Smrithi Salian
|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Axel Schmidt, Magdalena Danyel, Kathrin Grundmann
|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.Hellen Lesmann, Alexander Hustinx, Shahida Moosa
|May 25, 2024
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.Miles D Thompson, Alexej Knaus
|May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh
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Frequent Collaborators
7 joint publications
Peter M Krawitz
6 joint publications
Tzung-Chien Hsieh
4 joint publications
Axel Schmidt
4 joint publications
Jean Tori Pantel
4 joint publications
Rami Abou Jamra
4 joint publications
Theresa Brunet
4 joint publications
Hannah Klinkhammer
4 joint publications
Markus Nöthen
4 joint publications
Shahida Moosa
3 joint publications
Malte Spielmann
