Anita Rauch

40PUBLICATIONS
476CO-AUTHORS
NeurogeneticsCancer geneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Quaternary environments
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Publications (40)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Jan 14, 2026
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Fernanda de Azevedo Correa, Imen Habibi, Jing Zhai

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

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