Author

Katharina; https://orcid.org/0000-0002-4425-3072 Steindl

Observed names: Steindl, Katharina, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072

ORCID: 0000-0002-4425-3072

Observed ORCID: 0000-0002-4425-3072

OpenAlex ID: A5151028057

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

2012 · Rice, Gillian I, Kasher, Paul R, et al. · Zurich Open Repository and Archive (University of Zurich) · 12

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

2021 · Zanoni, Paolo; https://orcid.org/0000-0001-9397-1989, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072, et al. · Zurich Open Repository and Archive (University of Zurich) · 3

Further delineation of the SCAF4-associated neurodevelopmental disorder

2025 · Schmid, Cosima M., Gregor, Anne, et al. · Research at the University of Copenhagen (University of Copenhagen) · 2

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-Month-Old Girl: A Case Report

2026 · Wohlgemuth, Catherine Aurelia; https://orcid.org/0009-0009-8722-7323, Gennari, Antonio Giulio; https://orcid.org/0000-0003-2224-0083, et al. · Zurich Open Repository and Archive (University of Zurich)

2025 · Houdayer, Clara; https://orcid.org/0000-0001-9010-7722, Rooney, Kathleen; https://orcid.org/0000-0002-7871-8982, et al. · Zurich Open Repository and Archive (University of Zurich)

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

2023 · Maroofian, Reza; https://orcid.org/0000-0001-6763-1542, Kaiyrzhanov, Rauan; https://orcid.org/0000-0003-1640-4010, et al. · Zurich Open Repository and Archive (University of Zurich)

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

2023 · Sheppard, Sarah E; https://orcid.org/0000-0003-3480-8123, Bryant, Laura; https://orcid.org/0000-0001-8483-8940, et al. · Zurich Open Repository and Archive (University of Zurich)

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

2022 · Laugwitz, Lucia, Seibt, Annette, et al. · Zurich Open Repository and Archive (University of Zurich)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

2021 · Radio, Francesca Clementina, Pang, Kaifang, et al. · Zurich Open Repository and Archive (University of Zurich)

Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities

2020 · Schneeberger, Pauline E, von Elsner, Leonie, et al. · Zurich Open Repository and Archive (University of Zurich)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

2019 · O'Donnell-Luria, Anne H, Pais, Lynn S, et al. · Zurich Open Repository and Archive (University of Zurich)

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

2018 · Stephen, Joshi, Maddirevula, Sateesh, et al. · Zurich Open Repository and Archive (University of Zurich)

Works count: 18

Citation count: 17

H-index: 2

I10-index: 1