Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Sequencing depth and coverage: key considerations in genomic analyses

(2014) David Sims et al.   NATURE REVIEWS GENETICS

FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data

(2013) Yuhao Shi et al.   BIOINFORMATICS

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation

(2013) J.L. Hayes et al.   GENOMICS

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

(2013) Christopher M. Watson et al.   HUMAN MUTATION

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS

(2012) Anne-Katrin Emde et al.   BIOINFORMATICS

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

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

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Genetic diagnosis of familial breast cancer using clonal sequencing

(2010) Joanne E. Morgan et al.   HUMAN MUTATION

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

(2009) Jonna Tallila et al.   HUMAN MUTATION

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION