Author details

Full Name

Gerard W Dougherty

Affiliation

University Hospital Muenster

ORCID

Career Start Year

2000

Papers

H Index

Expertise

CM4AI Collaborator

Nevan J Krogan (CM4AI)

PMID	Paper Title	Journal Title	Published Year
36727596	Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.	Genet Med	2023
36873931	Pathogenic gene variants in <i>CCDC39</i>, <i>CCDC40</i>, <i>RSPH1</i>, <i>RSPH9</i>, <i>HYDIN,</i> and <i>SPEF2</i> cause defects of sperm flagella composition and male infertility.	Front Genet	2023
36047773	Recessive Mutations in <i>CFAP74</i> Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.	Am J Respir Cell Mol Biol	2022
34077761	Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.	Am J Hum Genet	2021
33561200	Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.	Mol Hum Reprod	2021
31545650	<i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.	Am J Respir Cell Mol Biol	2020
31996837	Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.	Nat Med	2020
31959991	A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.	Nat Med	2020
33139725	CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.	Nat Commun	2020
32473706	The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.	Tissue Cell	2020
30408808	Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.	Respiration	2019
31638833	Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of <i>DNAH5</i> in Humans and Mice.	Circ Genom Precis Med	2019
31630787	De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.	Am J Hum Genet	2019
31568139	Acinetobacter baumannii Is a Risk Factor for Lower Respiratory Tract Infections in Children and Adolescents With a Tracheostomy.	Pediatr Infect Dis J	2019
31095607	CiliaCarta: An integrated and validated compendium of ciliary genes.	PLoS One	2019
29727693	Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.	Am J Hum Genet	2018
30148830	Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.	PLoS Genet	2018
28041644	Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.	Am J Hum Genet	2017
29257953	Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.	Dev Cell	2017
28543983	Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.	Hum Mutat	2017
26909801	DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.	Am J Respir Cell Mol Biol	2016
27173435	An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.	Nat Commun	2016
27486780	TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.	Am J Hum Genet	2016
26777464	Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.	Hum Mutat	2016
26373788	Ciliary function and motor protein composition of human fallopian tubes.	Hum Reprod	2015
26387594	Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.	Am J Hum Genet	2015
24747639	Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.	Nat Genet	2014
25192045	CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.	Am J Hum Genet	2014
25048963	MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.	Nat Commun	2014
25186273	Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.	Eur Respir J	2014
23891469	ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.	Am J Hum Genet	2013
24055112	Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.	Am J Hum Genet	2013
23849778	ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.	Am J Hum Genet	2013
23872636	DYX1C1 is required for axonemal dynein assembly and ciliary motility.	Nat Genet	2013
19287378	Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.	Nat Cell Biol	2009
18436335	The Rsu-1-PINCH1-ILK complex is regulated by Ras activation in tumor cells.	Eur J Cell Biol	2008
15878342	The Ras suppressor Rsu-1 binds to the LIM 5 domain of the adaptor protein PINCH1 and participates in adhesion-related functions.	Exp Cell Res	2005
16206169	CLAMP, a novel microtubule-associated protein with EB-type calponin homology.	Cell Motil Cytoskeleton	2005
14553901	Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery.	Hear Res	2003
12510772	Identification of an alternatively spliced RNA for the Ras suppressor RSU-1 in human gliomas.	J Neurooncol	2002
10930091	Ectopic expression of Rsu-1 results in elevation of p21CIP and inhibits anchorage-independent growth of MCF7 breast cancer cells.	Breast Cancer Res Treat	2000

1 - 41 of 41

Xi Luo

Baylor College of Medicine

Career Start Year 2014

Number of shared co-authors 2

Dhivya Kumar

Cardiovascular Research Institute, University of California san francisco

Career Start Year 2011

Number of shared co-authors 2

Florent Dingli

Institut Curie, PSL Research University

Career Start Year 2011

Number of shared co-authors 0

Kangkang Song

University of Massachusetts Chan Medical School

Career Start Year 2011

Number of shared co-authors 0

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 9

Theodore G Drivas

Department of Genetics University of Pennsylvania Philadelphia PA.

Career Start Year 2008

Number of shared co-authors 0

Joon Kim

Korea Advanced Institute of Science and Technology (KAIST)

Career Start Year 2008

Number of shared co-authors 2

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 5

Quanlong Lu

Brody School of Medicine, East Carolina University

Career Start Year 2007

Number of shared co-authors 2

David K Breslow

Yale University

Career Start Year 2006

Number of shared co-authors 1

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 4

Jean Muller

INSERM, Universite de Strasbourg

Career Start Year 2003

Number of shared co-authors 1

Edwin C Oh

University of Nevada Las Vegas.

Career Start Year 2003

Number of shared co-authors 3

Won-Jing Wang

Institute of Biochemistry and Molecular Biology, National Yang Ming University

Career Start Year 2002

Number of shared co-authors 0

Perciliz L Tan

Center for Human Disease Modeling, Duke University School of Medicine

Career Start Year 2002

Number of shared co-authors 5

Jeroen A A Demmers

Erasmus Medical Center

Career Start Year 2000

Number of shared co-authors 1

Stacey L Edwards

QIMR Berghofer Medical Research Institute

Career Start Year 1999

Number of shared co-authors 0

Christopher J Westlake

Center for Cancer Research

Career Start Year 1998

Number of shared co-authors 2

Luis Sanchez-Pulido

MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh

Career Start Year 1996

Number of shared co-authors 3

Damarys Loew

Institut Curie, PSL Research University

Career Start Year 1996

Number of shared co-authors 0

Dan Doherty

University of Washington

Career Start Year 1996

Number of shared co-authors 16

Lotte B Pedersen

University of Copenhagen

Career Start Year 1993

Number of shared co-authors 3

S??ren T Christensen

University of Copenhagen

Career Start Year 1992

Number of shared co-authors 0

Joseph G Gleeson

University of California

Career Start Year 1991

Number of shared co-authors 14

Bradley K Yoder

Heersink School of Medicine, University of Alabama at Birmingham

Career Start Year 1991

Number of shared co-authors 10

Timothy C Cox

University of Missouri-Kansas City Kansas City

Career Start Year 1990

Number of shared co-authors 8

Peter K Jackson

Stanford University School of Medicine, Center for Clinical Sciences Research

Career Start Year 1989

Number of shared co-authors 10

Shrikant Mane

Yale School of Medicine

Career Start Year 1989

Number of shared co-authors 9

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 8

Val C Sheffield

Carver College of Medicine, University of Iowa

Career Start Year 1980

Number of shared co-authors 7

row(s) 1 - 30 of 30

Heymut Omran

University Hospital Muenster

Co-authored papers 33

Petra Pennekamp

University Hospital Muenster

Co-authored papers 21

Claudius Werner

Universitatsklinikum Munster

Co-authored papers 19

Tabea N??the-Menchen

University Hospital Muenster

Co-authored papers 16

Nicholas Katsanis

Northwestern University

Co-authored papers 4

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 4

Matthias Griese

University of Munich, German Center for Lung Research (DZL)

Co-authored papers 4

Cecilia W Lo

University of Pittsburgh School of Medicine

Co-authored papers 3

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 2

Teunis J P van Dam

Utrecht University

Co-authored papers 2

Martijn A Huynen

Radboud University Medical Centre Nijmegen

Co-authored papers 2

Friedhelm Hildebrandt

Boston Children's Hospital

Co-authored papers 2

Robert B Russell

Heidelberg University

Co-authored papers 2

Alexandros Onoufriadis

Co-authored papers 2

Nikolai Klena

Co-authored papers 2

Rachel H Giles

University Medical Center Utrecht

Co-authored papers 2

Rebecca D Burdine

Princeton University

Co-authored papers 2

Chanjae Lee

University of Texas

Co-authored papers 2

David M Sabatini

Whitehead Institute for Biomedical Research and Massachusetts Institute of Technology

Co-authored papers 2

Richard Durbin

University of Cambridge

Co-authored papers 2

John B Wallingford

University of Texas

Co-authored papers 2

Martina Brueckner

Co-authored papers 1

Colin A Johnson

University of Leeds Leeds Institute of Medical Research at St James's

Co-authored papers 1

Galo Garcia

Cardiovascular Research Institute, University of California san francisco

Co-authored papers 1

Rama Rao Damerla

Kasturba Medical College, Manipal Academy of Higher Education (MAHE)

Co-authored papers 1

Fabian Rentzsch

University of Bergen

Co-authored papers 1

Michael J Bamshad

University of Washington

Co-authored papers 1

Harvey M Florman

University of Massachusetts Medical School

Co-authored papers 1

Kimberlie A Burns

Co-authored papers 1

Melissa K Jungnickel

The Roslin Institute, The University of Edinburgh

Co-authored papers 1

1 - 30

Author Details

Column Actions

Recommended Authors

Collaborators