Sonja Neuser

Mutation timing, accumulation and selection in the male germline shape inheritance risk for developmental disorders

The paper investigates how mutation timing, accumulation, and selection in the male germline influence the risk of developmental disorders through de novo mutations.

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

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

The Refined Recurrence Risk of De Novo variants Due to Parental Mosaicism

The paper assesses parental mosaicism in families with de novo variants, finding 4.4% parental mosaicism and proposing amplicon-based sequencing for improved recurrence risk assessment.

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

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.