Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China

(2021) Yuhong Guan et al.   CHEST

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies

(2020) Zhen Liu et al.   Science Translational Medicine

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China

(2020) Zhuoyao Guo et al.   JOURNAL OF PEDIATRICS

Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

(2020) Lucía Bañuls et al.   Journal of Clinical Medicine

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

(2019) Bruna Rubbo et al.   CHEST

Ciliary functional analysis: Beating a path towards standardization

(2019) Céline Kempeneers et al.   PEDIATRIC PULMONOLOGY

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

(2019) Rahma Mani et al.   HUMAN MUTATION

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

(2019) Mahmoud R. Fassad et al.   CLINICAL GENETICS

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Advances in the Genetics of Primary Ciliary Dyskinesia

(2018) Amjad Horani et al.   CHEST

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

(2018) Katharina Schwarze et al.   GENETICS IN MEDICINE

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

(2018) Tamara Paff et al.   HUMAN MUTATION

Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings

(2018) Sabine Dettmer et al.   PLoS One

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

(2018) Bo Zhou et al.   JOURNAL OF MEDICAL GENETICS

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

VarCards: an integrated genetic and clinical database for coding variants in the human genome

(2017) Jinchen Li et al.   NUCLEIC ACIDS RESEARCH

The Reactome Pathway Knowledgebase

(2017) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

(2017) Virginia Mirra et al.   Frontiers in Pediatrics

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Recent advances in primary ciliary dyskinesia

(2016) Kazuhiko Takeuchi et al.   AURIS NASUS LARYNX

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

(2016) Laura Behan et al.   EUROPEAN RESPIRATORY JOURNAL

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

(2015) Christian R. Marshall et al.   G3-Genes Genomes Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Julia Wallmeier et al.   NATURE GENETICS

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

(2013) Maureen Wirschell et al.   NATURE GENETICS

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

(2013) Amjad Horani et al.   PLoS One

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

(2009) M Failly et al.   JOURNAL OF MEDICAL GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

PID: the Pathway Interaction Database

(2008) Carl F. Schaefer et al.   NUCLEIC ACIDS RESEARCH

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

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