Susanne Theiss
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 14 publications
Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.
Journal: bioRxiv : the preprint server for biology
Published: May 18, 2026
In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.
Journal: Scientific reports
Published: July 07, 2025
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
Journal: Disease models & mechanisms
Published: April 17, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.
Journal: American journal of medical genetics. Part A
Published: January 10, 2025
Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.
Journal: Communications biology
Published: October 14, 2024
SMAD5 as a novel gene for familial pulmonary arterial hypertension.
Journal: Clinical science (London, England : 1979)
Published: July 10, 2024
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Journal: Disease models & mechanisms
Published: August 09, 2022
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 29, 2020
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Journal: Frontiers in physiology
Published: September 14, 2018
Nemo-like kinase 1 (Nlk1) and paraxial protocadherin (PAPC) cooperatively control Xenopus gastrulation through regulation of Wnt/planar cell polarity (PCP) signaling.
Journal: Differentiation; research in biological diversity
Published: July 13, 2016
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Journal: Human molecular genetics
Published: May 24, 2016
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Journal: PLoS genetics
Published: July 01, 2014
Last Updated: 09/26/2026