Publications by authors named "Gerard Dougherty"

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Pathogenic variants in , , and cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Kai Wohlgemuth, Niklas Hoersting, Julia Koenig, Niki Tomas Loges, Johanna Raidt, Gerard W Dougherty

Eur Respir J· December 2024

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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm

Am J Respir Crit Care Med· July 2024

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Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Gerard W Dougherty

Genet Med· May 2023

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Recessive Mutations in Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Luisa Biebach, Sandra Cindrić, Julia Koenig, Isabella Aprea, Gerard W Dougherty

Am J Respir Cell Mol Biol· September 2022

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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Julia Wallmeier, Diana Bracht, Hessa S Alsaif, Gerard W Dougherty, Heike Olbrich

Am J Hum Genet· July 2021

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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Isabella Aprea, Tabea Nöthe-Menchen, Gerard W Dougherty, Johanna Raidt, Niki T Loges

Mol Hum Reprod· February 2021

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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Gerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt

Nat Commun· November 2020

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The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
Mariaevelina Alfieri, Daniela Iaconis, Roberta Tammaro, Lucia Perone, Gaetano Calì, Gerard W Dougherty

Tissue Cell· June 2020

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Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.
Andrea Radine, Claudius Werner, Johanna Raidt, Gerard W Dougherty, Laura Kerschke

Respiration· April 2020

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and -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Sandra Cindrić, Gerard W Dougherty, Heike Olbrich, Rim Hjeij, Niki Tomas Loges

Am J Respir Cell Mol Biol· March 2020

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A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.
Raghu R Chivukula, Daniel T Montoro, Hui Min Leung, Jason Yang, Hanan E Shamseldin, Gerard W Dougherty

Nat Med· February 2020

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Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.
Raghu R Chivukula, Daniel T Montoro, Hui Min Leung, Jason Yang, Hanan E Shamseldin, Gerard W Dougherty

Nat Med· February 2020

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CiliaCarta: An integrated and validated compendium of ciliary genes.
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Gerard W Dougherty

PLoS One· January 2020

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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, Tabea Nöthe-Menchen, Sandra Cindric, Gerard W Dougherty

Am J Hum Genet· November 2019

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Acinetobacter baumannii Is a Risk Factor for Lower Respiratory Tract Infections in Children and Adolescents With a Tracheostomy.
Joerg Grosse-Onnebrink, Johanna Rudloff, Christina Kessler, Claudius Werner, Gerard W Dougherty

Pediatr Infect Dis J· October 2019

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Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of in Humans and Mice.
Tabea Nöthe-Menchen, Julia Wallmeier, Petra Pennekamp, Inga M Höben, Heike Olbrich, Gerard W Dougherty

Circ Genom Precis Med· October 2019

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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira

PLoS Genet· August 2018

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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Inga M Höben, Rim Hjeij, Heike Olbrich, Gerard W Dougherty, Tabea Nöthe-Menchen

Am J Hum Genet· May 2018

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Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.
Monika Abedin Sigg, Tabea Menchen, Chanjae Lee, Jeffery Johnson, Melissa K Jungnickel, Gerard W Dougherty

Dev Cell· December 2017

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Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich

Hum Mutat· August 2017

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Gerard W Dougherty

Am J Hum Genet· January 2017

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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Gerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, Heike Olbrich, Petra Pennekamp

Am J Respir Cell Mol Biol· August 2016

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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, Christine Edelbusch, Rim Hjeij

Am J Hum Genet· August 2016

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T Nguyen, Gerard Dougherty

Nat Commun· May 2016

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Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Israel Amirav, Julia Wallmeier, Niki T Loges, Tabea Menchen, Petra Pennekamp, Gerard W Dougherty

Hum Mutat· April 2016

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