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, +27

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsPathologyMotile Ciliopathy +5

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

Adrien Frommer, Rim Hjeij, Niki T. Loges, +22

American Journal of Respiratory Cell and Molecular Biology

GeneticsDiagnosisPathologyMolecular GeneticsRs Head +15

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

Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, +48

Nature Communications

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

Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, +27

PLoS Genetics

GeneticsMolecular GeneticsDisease Gene IdentificationReproductive BiologyEpigenetics +17

<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, +12

American Journal of Respiratory Cell and Molecular Biology

Mutation of <i>serine/threonine protein kinase 36</i> ( <i>STK36</i> ) causes primary ciliary dyskinesia with a central pair defect

Christine Edelbusch, Sandra Cindrić, Gerard W. Dougherty, +7

Human Mutation

Mendelian DisorderInflammatory Lung DiseaseGeneticsPathogenesisMinor Pcd Subgroup +13

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

Julia Wallmeier, Diana Bracht, Hessa S. Alsaif, +16

The American Journal of Human Genetics

Tp73 CauseGenetic DisorderGeneticsPathologyMolecular Genetics +3

Label-Free Multi Parameter Optical Interrogation of Endothelial Activation in Single Cells using a Lab on a Disc Platform

Damien King, Macdara Glynn, Sandra Cindrić, +12

Scientific Reports

A novel hypomorphic allele of <i>Spag17</i> causes primary ciliary dyskinesia phenotypes in mice

Zakia Abdelhamed, Marshall Lukacs, Sandra Cindrić, +2

Disease Models & Mechanisms

SpermatogenesisGeneticsPathologyMolecular GeneticsDisease Gene Identification +17

A range of 30–62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance

Niki T. Loges, June K. Marthin, Johanna Raidt, +18

European Respiratory Journal