Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

(2014) Xiao Zhang et al.   PLoS One

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

(2013) Michael H Farkas et al.   BMC GENOMICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN 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

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

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

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

Autosomal Recessive Bestrophinopathy

(2013) Camiel J.F. Boon et al.   OPHTHALMOLOGY

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

(2013) Jacques Zaneveld et al.   Science China-Life Sciences

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

(2012) Samuel P Strom et al.   BMC Medical Genetics

An informatics approach to analyzing the incidentalome

(2012) Jonathan S. Berg et al.   GENETICS IN MEDICINE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness

(2012) J. Bennett et al.   Science Translational Medicine

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Allelic and phenotypic heterogeneity inABCA4mutations

(2011) Tomas R. Burke et al.   OPHTHALMIC GENETICS

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

(2010) R. H. Henderson et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

(2010) Robert S. Molday et al.   PROGRESS IN LIPID RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A SNP discovery method to assess variant allele probability from next-generation resequencing data

(2009) Y. Shen et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mutation profile of theCDH23 gene in 56 probands with Usher syndrome type I

(2008) A. Oshima et al.   HUMAN MUTATION

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated

(2008) Shao H. Yang et al.   JOURNAL OF CLINICAL INVESTIGATION