Clinical and Genetic Analysis of Children with Kartagener Syndrome

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia

(2018) Kazuhiko Takeuchi et al.   AURIS NASUS LARYNX

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

(2018) Lin Yang et al.   Frontiers in Genetics

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

(2018) Stephane E. Castel et al.   NATURE GENETICS

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

(2016) Xuan Xu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

(2016) Gen Kano et al.   Molecular Medicine Reports

Cilia-based flow network in the brain ventricles

(2016) R. Faubel et al.   SCIENCE

Cilia and Mucociliary Clearance

(2016) Ximena M. Bustamante-Marin et al.   Cold Spring Harbor Perspectives in Biology

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

(2015) Stephanie D. Davis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Major regulatory mechanisms involved in sperm motility

(2015) Rute Pereira et al.   ASIAN JOURNAL OF ANDROLOGY

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature

(2015) Weiguo Sui et al.   Clinical Respiratory Journal

Mutation analysis in patients with total sperm immotility

(2015) Rute Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

(2015) Jorge Oliveira et al.   JOURNAL OF HUMAN GENETICS

A genome-wide approach to link genotype to clinical outcome by utilizing next generation sequencing and gene chip data of 6,697 breast cancer patients

(2015) Lőrinc Pongor et al.   Genome Medicine

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Left-Right Organizer Flow Dynamics: How Much Cilia Activity Reliably Yields Laterality?

(2014) Pedro Sampaio et al.   DEVELOPMENTAL CELL

Structure of human cytoplasmic dynein-2 primed for its power stroke

(2014) Helgo Schmidt et al.   NATURE

A molecular ruler determines the repeat length in eukaryotic cilia and flagella

(2014) T. Oda et al.   SCIENCE

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

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

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

(2013) Thomas W. Ferkol et al.   JOURNAL OF PEDIATRICS

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Human housekeeping genes, revisited

(2013) Eli Eisenberg et al.   TRENDS IN GENETICS

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

(2012) Nader Nakhleh et al.   CIRCULATION

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

(2012) Dinu Antony et al.   HUMAN MUTATION

Delineation ofCCDC39/CCDC40mutation spectrum and associated phenotypes in primary ciliary dyskinesia

(2012) Sylvain Blanchon et al.   JOURNAL OF MEDICAL GENETICS

The 2.8 Å crystal structure of the dynein motor domain

(2012) Takahide Kon et al.   NATURE

Insights into dynein motor domain function from a 3.3-Å crystal structure

(2012) Helgo Schmidt et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

(2012) Jana Djakow et al.   PEDIATRIC PULMONOLOGY

Structural Basis for Microtubule Binding and Release by Dynein

(2012) W. B. Redwine et al.   SCIENCE

Protein localization in disease and therapy

(2011) M.-C. Hung et al.   JOURNAL OF CELL SCIENCE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

Ciliary Transport, Gamete Interaction, and Effects of the Early Embryo in the Oviduct: Ex Vivo Analyses Using a New Digital Videomicroscopic System in the Cow1

(2009) Sabine Kölle et al.   BIOLOGY OF REPRODUCTION

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

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS