DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Insight into planar cell polarity

(2014) Michael Sebbagh et al.   EXPERIMENTAL CELL RESEARCH

MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

(2014) Diana Zahnleiter et al.   HUMAN MUTATION

Basal body proteins regulate Notch signaling through endosomal trafficking

(2014) C. C. Leitch et al.   JOURNAL OF CELL SCIENCE

Subunit composition of the human cytoplasmic dynein-2 complex

(2014) D. Asante et al.   JOURNAL OF CELL SCIENCE

Ciliopathies: The Trafficking Connection

(2014) Kayalvizhi Madhivanan et al.   TRAFFIC

The MST1/2-SAV1 complex of the Hippo pathway promotes ciliogenesis

(2014) Miju Kim et al.   Nature Communications

The primary cilium

(2014) Andrew M Fry et al.   Organogenesis

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

(2013) Miriam Schmidts et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

Functional interaction between autophagy and ciliogenesis

(2013) Olatz Pampliega et al.   NATURE

Primary cilia in neurodevelopmental disorders

(2013) Enza Maria Valente et al.   Nature Reviews Neurology

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Context-Dependent Regulation of Wnt Signaling through the Primary Cilium

(2012) E. C. Oh et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

The ciliary transition zone: from morphology and molecules to medicine

(2012) Peter G. Czarnecki et al.   TRENDS IN CELL BIOLOGY

Human limb abnormalities caused by disruption of hedgehog signaling

(2012) Eve Anderson et al.   TRENDS IN GENETICS

Primary cilia and graded Sonic Hedgehog signaling

(2012) Noriaki Sasai et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stages of ciliogenesis and regulation of ciliary length

(2011) Prachee Avasthi et al.   DIFFERENTIATION

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

(2011) R Abou Jamra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

Scrutinizing ciliopathies by unraveling ciliary interaction networks

(2011) Jeroen van Reeuwijk et al.   HUMAN MOLECULAR GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Centrosomal Protein Pericentrin Identified at the Basal Body Complex of the Connecting Cilium in Mouse Photoreceptors

(2011) Johanna Mühlhans et al.   PLoS One

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

(2010) A. McKenna et al.   GENOME RESEARCH

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes

(2010) Maciej Geremek et al.   HUMAN GENETICS

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE

Primary cilia regulate mTORC1 activity and cell size through Lkb1

(2010) Christopher Boehlke et al.   NATURE CELL BIOLOGY

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

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

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

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

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

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

(2009) Amy E. Merrill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

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

(2009) Prateek Kumar et al.   Nature Protocols

Building it up and taking it down: The regulation of vertebrate ciliogenesis

(2008) Nicole Santos et al.   DEVELOPMENTAL DYNAMICS

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS