Tabea Nöthe-Menchen

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Julia Wallmeier, Diana Frank, Amelia Shoemark et al. · The American Journal of Human Genetics · 2019 · 201 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Aleš Maver et al. · The American Journal of Human Genetics · 2018 · 138 citations · Full text

Chromatin, Genome Instability, Developmental Biology +14

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen et al. · Nature Communications · 2020 · 92 citations · Full text

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Asaf Ta‐Shma, Rim Hjeij, Zeev Perles et al. · PLoS Genetics · 2018 · 87 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +19

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

Isabella Aprea, Johanna Raidt, Inga M. Höben et al. · PLoS Genetics · 2021 · 83 citations · Full text