Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

(2016) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Docking-complex-independent alignment ofChlamydomonasouter dynein arms with 24-nm periodicityin vitro

(2016) Toshiyuki Oda et al.   JOURNAL OF CELL SCIENCE

Congenital valvular defects associated with deleterious mutations in the PLD1 gene

(2016) Asaf Ta-Shma et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

(2016) Karsten Boldt et al.   Nature Communications

Mutations in CCDC11 , which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer

(2015) Vijayashankaranarayanan Narasimhan et al.   HUMAN MUTATION

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

(2014) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A human laterality disorder associated with a homozygous WDR16 deletion

(2014) Asaf Ta-Shma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

(2013) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE 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

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A human laterality disorder associated with recessiveCCDC11mutation

(2012) Zeev Perles et al.   JOURNAL OF MEDICAL GENETICS

Loss of the Ciliary Kinase Nek8 Causes Left-Right Asymmetry Defects

(2012) D. K. Manning et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2012) Jana Djakow et al.   PEDIATRIC PULMONOLOGY

MNS1 Is Essential for Spermiogenesis and Motile Ciliary Functions in Mice

(2012) Jian Zhou et al.   PLoS Genetics

The Cardiac Malpositions

(2011) Joseph K. Perloff   AMERICAN JOURNAL OF CARDIOLOGY

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

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

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