Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

(2019) Ximena M. Bustamante-Marin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure

(2017) Adam J. Shapiro et al.   ULTRASTRUCTURAL PATHOLOGY

Genome-wide significance testing of variation from single case exomes

(2016) Amy B Wilfert et al.   NATURE GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

(2015) Adam J. Shapiro et al.   PEDIATRIC PULMONOLOGY

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Culturing of Human Nasal Epithelial Cells at the Air Liquid Interface

(2013) Loretta Müller et al.   Jove-Journal of Visualized Experiments

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conditionally reprogrammed cells represent a stem-like state of adult epithelial cells

(2012) F. A. Suprynowicz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

(2010) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Pcdp1 is a central apparatus protein that binds Ca2+-calmodulin and regulates ciliary motility

(2010) Christen G. DiPetrillo et al.   JOURNAL OF CELL BIOLOGY

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION