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Alexej Knaus

12PUBLICATIONS

205CO-AUTHORS

Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Infant and child health

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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

|Jun 24, 2025

Author Correction: 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

|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

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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

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

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