A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

(2017) Winston Lee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases

(2017) Shashank Gupta et al.   EXPERIMENTAL EYE RESEARCH

In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases

(2017) Stéphanie S. Cornelis et al.   HUMAN MUTATION

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

(2017) Xiaolin Zhu et al.   PLoS Genetics

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

(2016) Monkol Lek et al.   NATURE

The current status of molecular diagnosis of inherited retinal dystrophies

(2015) John (Pei-wen) Chiang et al.   CURRENT OPINION IN OPHTHALMOLOGY

Quantitative Fundus Autofluorescence Distinguishes ABCA4-Associated and Non–ABCA4-Associated Bull's-Eye Maculopathy

(2015) Tobias Duncker et al.   OPHTHALMOLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

(2014) Yajing (Angela) Xie et al.   HUMAN MOLECULAR GENETICS

Analysis of the ABCA4 genomic locus in Stargardt disease

(2014) Jana Zernant et al.   HUMAN MOLECULAR GENETICS

Genetic and Clinical Analysis ofABCA4-Associated Disease in African American Patients

(2014) Jana Zernant et al.   HUMAN MUTATION

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation

(2012) Michael P. Epstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

(2011) Sara J Bowne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

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

Central Areolar Choroidal Dystrophy

(2009) Camiel J.F. Boon et al.   OPHTHALMOLOGY