Christiane Zweier

机构：Center for Human Genetics · ORCID：0000-0001-8002-2020

发表论文 245 篇 · 总被引 12640 次 · h-index 60

代表论文

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease (2023 · Nature Genetics · 被引 287)
Penetrance, variable expressivity and monogenic neurodevelopmental disorders (2024 · European Journal of Medical Genetics · 被引 21)
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024 · The American Journal of Human Genetics · 被引 20)
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024 · European Journal of Human Genetics · 被引 17)
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature (2024 · The American Journal of Human Genetics · 被引 15)
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2024 · The American Journal of Human Genetics · 被引 9)