Anais Begemann

Schlieren, ZH, Switzerland

Last Updated: 09/26/2026

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Found 22 publications

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

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

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Journal: Biochemistry and biophysics reports

Published: June 18, 2025

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

Journal: Epilepsia

Published: April 29, 2025

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

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

Journal: European journal of human genetics : EJHG

Published: July 11, 2024

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics

Published: April 29, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 01, 2024

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

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

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

Journal: Brain : a journal of neurology

Published: January 27, 2023

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

Journal: American journal of human genetics

Published: January 09, 2023

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Journal: Human molecular genetics

Published: November 14, 2022

Showing 1-12 of 22

Last Updated: 09/26/2026