Sonja Neuser

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 18 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

Journal: Pediatric neurology

Published: July 09, 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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology

Published: January 02, 2024

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Journal: Nature communications

Published: July 25, 2023

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Journal: Pediatric neurology

Published: May 16, 2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Journal: Brain : a journal of neurology

Published: June 23, 2022

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine

Published: November 23, 2021

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Last Updated: 09/26/2026