Gerard W. Dougherty
Muenster, NW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.
Journal: American journal of respiratory and critical care medicine
Published: February 26, 2026
Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Journal: The European respiratory journal
Published: April 25, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Journal: American journal of respiratory and critical care medicine
Published: April 16, 2024
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Journal: Frontiers in genetics
Published: December 06, 2022
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 20, 2022
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Journal: American journal of respiratory cell and molecular biology
Published: September 01, 2022
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Journal: American journal of human genetics
Published: January 15, 2021
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Journal: Molecular human reproduction
Published: April 28, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Journal: Nature communications
Published: November 03, 2019
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Journal: Circulation. Genomic and precision medicine
Published: October 23, 2019
Acinetobacter baumannii Is a Risk Factor for Lower Respiratory Tract Infections in Children and Adolescents With a Tracheostomy.
Journal: The Pediatric infectious disease journal
Published: October 01, 2019
Last Updated: 09/26/2026