Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

(2018) Chloé Quélin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

(2018) Iker Sanchez-Navarro et al.   Scientific Reports

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

(2017) Yannis Nevers et al.   MOLECULAR BIOLOGY AND EVOLUTION

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of human Bardet-Biedl syndrome, an updates

(2016) S.A. Khan et al.   CLINICAL 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

The Intraflagellar Transport Machinery

(2016) Michael Taschner et al.   Cold Spring Harbor Perspectives in Biology

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

(2015) Sophie Scheidecker et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

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

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

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

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

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

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

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients withLZTFL1(BBS17) mutations

(2013) E. Schaefer et al.   CLINICAL 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

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

Crystal structure of the intraflagellar transport complex 25/27

(2011) Sagar Bhogaraju et al.   EMBO JOURNAL

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

(2011) Mark A DePristo et al.   NATURE GENETICS

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS