Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

(2013) Christina Austin-Tse et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

(2013) Daniel J. Moore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

(2013) Maimoona A. Zariwala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of R2D2 Proteins ROPN1 and ROPN1L Causes Defects in Murine Sperm Motility, Phosphorylation, and Fibrous Sheath Integrity1

(2013) Sarah E. Fiedler et al.   BIOLOGY OF REPRODUCTION

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals

(2013) Julie Jerber et al.   HUMAN MOLECULAR GENETICS

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

(2013) M. Leigh Anne Daniels et al.   HUMAN MUTATION

A solid-state control system for dynein-based ciliary/flagellar motility

(2013) Stephen M. King   JOURNAL OF CELL BIOLOGY

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

(2013) Amjad Horani et al.   PLoS One

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

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

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

(2012) Dinu Antony et al.   HUMAN MUTATION

The CSC connects three major axonemal complexes involved in dynein regulation

(2012) Thomas Heuser et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

(2012) Ewa Ziętkiewicz et al.   PLoS One

Subunit interactions within the Chlamydomonas flagellar spokehead

(2011) Takahiro Kohno et al.   Cytoskeleton

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

(2011) A Shoemark et al.   JOURNAL OF CLINICAL PATHOLOGY

SMART 7: recent updates to the protein domain annotation resource

(2011) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Planar cell polarity signaling, cilia and polarized ciliary beating

(2010) John B Wallingford   CURRENT OPINION IN CELL BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL

Left-Right Determination: Involvement of Molecular Motor KIF3, Cilia, and Nodal Flow

(2009) N. Hirokawa et al.   Cold Spring Harbor Perspectives in Biology

Meichroacidin Containing the Membrane Occupation and Recognition Nexus Motif Is Essential for Spermatozoa Morphogenesis

(2008) Keizo Tokuhiro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery

(2008) Noveera T. Ahmed et al.   JOURNAL OF CELL BIOLOGY

Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis

(2008) A. Shoemark et al.   RESPIRATORY MEDICINE

Tissue expression patterns identify mouse cilia genes

(2007) Timothy S. McClintock et al.   PHYSIOLOGICAL GENOMICS