Katharina Steindl

5PUBLICATIONS
194CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsNeurogenetics
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Publications (5)

|Jul 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Angela Clara-Hwang, Stefani Stefani, Tracy Lau

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara

|Sep 03, 2021
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.

Elizabeth A VanSickle, Julianne Michael, André S Bachmann

|Jun 02, 2021
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.

Laura Gogoll, Katharina Steindl, Pascal Joset

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Frequent Collaborators

5 joint publications

Anita Rauch

2 joint publications

Antonio Vitobello

1 joint publications

Laura Gogoll

1 joint publications

Pascal Joset