Anita Rauch
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 165 publications
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: February 12, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
Journal: American journal of medical genetics. Part A
Published: October 14, 2025
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
Journal: American journal of human genetics
Published: September 26, 2025
Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
Journal: Frontiers in medicine
Published: September 12, 2025
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Journal: European journal of human genetics : EJHG
Published: July 17, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Journal: Biochemistry and biophysics reports
Published: June 18, 2025
Last Updated: 09/26/2026