Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Identification of indels in next-generation sequencing data

(2015) Aakrosh Ratan et al.   BMC BIOINFORMATICS

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

Targeted Exon Sequencing in Usher Syndrome Type I

(2014) K. M. Bujakowska et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Mobile DNA elements in the generation of diversity and complexity in the brain

(2014) Jennifer A. Erwin et al.   NATURE REVIEWS NEUROSCIENCE

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

PRISM: Pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants

(2012) Yue Jiang et al.   BIOINFORMATICS

SOAPindel: Efficient identification of indels from short paired reads

(2012) S. Li et al.   GENOME RESEARCH

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

(2011) Rıza Köksal Özgül et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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 molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS