Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis

(2017) Bing Zhu et al.   PLoS Genetics

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

(2016) Elise Schaefer et al.   JOURNAL OF HUMAN GENETICS

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

(2016) Monkol Lek et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

(2016) Corinne Stoetzel et al.   Nature Communications

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ophthalmic phenotype ofIFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

(2015) Inam N Bifari et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distinct functions for IFT140 and IFT20 in opsin transport

(2014) Jacquelin A. Crouse et al.   Cytoskeleton

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

(2014) Kinga M. Bujakowska et al.   HUMAN MOLECULAR GENETICS

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

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

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

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

CANOES: detecting rare copy number variants from whole exome sequencing data

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

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

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

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 of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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

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

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

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS