Revital Abitbul

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Mieke Boon, Julia Wallmeier, Lina Ma et al. · Nature Communications · 2014 · 256 citations · Full text

Multiple Motile Cilia, Mendelian Disorder, Genetic Disorder +9

Systematic Analysis of<i>CCNO</i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

Israel Amirav, Julia Wallmeier, Niki T. Loges et al. · Human Mutation · 2016 · 95 citations

Phenotypic Variation, Genetics, Genetic Epidemiology +20

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

Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices

Revital Abitbul, Israel Amirav, Hannah Blau et al. · Respiratory Medicine · 2016 · 11 citations · Full text

Current Diagnosis, Diagnosis, Pathology +3