Sandra Cindrić

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

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Adrien Frommer, Rim Hjeij, Niki T. Loges et al. · American Journal of Respiratory Cell and Molecular Biology · 2015 · 129 citations · Full text

Genetics, Diagnosis, Pathology +17

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

<i>SPEF2-</i> and <i>HYDIN</i> -Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

Sandra Cindrić, Gerard W. Dougherty, Heike Olbrich et al. · American Journal of Respiratory Cell and Molecular Biology · 2019 · 78 citations