Mutations in human IFT140 cause non-syndromic retinal degeneration

Distinct functions for IFT140 and IFT20 in opsin transport

(2014) Jacquelin A. Crouse et al.   Cytoskeleton

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

(2014) Arif O. Khan et al.   JOURNAL OF AAPOS

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

eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

(2013) D Blain et al.   CLINICAL GENETICS

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   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

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

(2013) Kerry A. Miller et al.   PLoS Genetics

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

(2011) Pleasantine Mill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

IFT20 is required for opsin trafficking and photoreceptor outer segment development

(2011) Brian T. Keady et al.   MOLECULAR BIOLOGY OF THE CELL

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Structure and function of WD40 domain proteins

(2011) Chao Xu et al.   Protein & Cell

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN 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

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

(2009) J. de Vries et al.   EUROPEAN JOURNAL OF PEDIATRICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Characterization of mouse IFT complex B

(2009) John A. Follit et al.   CELL MOTILITY AND THE CYTOSKELETON

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Intraflagellar Transport and Functional Analysis of Genes Required for Flagellum Formation in Trypanosomes

(2007) Sabrina Absalon et al.   MOLECULAR BIOLOGY OF THE CELL