DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Out with the old, in with the new: reassessing morpholino knockdowns in light of genome editing technology

(2014) S. Schulte-Merker et al.   DEVELOPMENT

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

(2014) Martin Kircher et al.   NATURE GENETICS

Transcriptional Program of Ciliated Epithelial Cells Reveals New Cilium and Centrosome Components and Links to Human Disease

(2013) Ramona A. Hoh et al.   PLoS One

Congenital heart disease and the specification of left-right asymmetry

(2012) Richard J. B. Francis et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

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

(2012) Nader Nakhleh et al.   CIRCULATION

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

A unified taxonomy for ciliary dyneins

(2011) Erik F. Y. Hom et al.   Cytoskeleton

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

(2011) Muhammad Tariq et al.   GENOME BIOLOGY

Overlapping functions of Pea3 ETS transcription factors in FGF signaling during zebrafish development

(2010) Wade A. Znosko et al.   DEVELOPMENTAL BIOLOGY

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy

(2010) Matthew Swisher et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE 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

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Disorders of left-right asymmetry: Heterotaxy and situs inversus

(2009) Mardi J. Sutherland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Prenatal diagnosis of left atrial isomerism

(2009) S Pepes et al.   HEART

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE