Petra Pennekamp

机构：TUM Klinikum, Klinik und Poliklinik für Kinder- und Jugendmedizin, University Hospital Münster, Technical University of Munich · ORCID：0000-0002-8202-3809

发表论文 98 篇 · 总被引 5711 次 · h-index 39

代表论文

• De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry (2019 · The American Journal of Human Genetics · 被引 219)
• Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects (2018 · The American Journal of Human Genetics · 被引 150)
• Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways (2017 · Developmental Cell · 被引 146)
• CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module (2020 · Nature Communications · 被引 100)
• Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility (2018 · PLoS Genetics · 被引 94)
• Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility (2021 · PLoS Genetics · 被引 89)