Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

(2018) Leonardo Murgiano et al.   G3-Genes Genomes Genetics

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

(2017) Shobi Veleri et al.   HUMAN MOLECULAR GENETICS

Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy

(2017) Dilsad Turkdogan et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Genomic Analyses Reveal the Influence of Geographic Origin, Migration, and Hybridization on Modern Dog Breed Development

(2017) Heidi G. Parker et al.   Cell Reports

Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa

(2017) Freya M. Mowat et al.   Frontiers in Neuroscience

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

(2016) Gavin Arno et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration

(2016) Oliver P. Forman et al.   MAMMALIAN GENOME

Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

(2016) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

The Ensembl gene annotation system

(2016) Bronwen L. Aken et al.   Database-The Journal of Biological Databases and Curation

Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in theCNGA1gene

(2015) A. C. Wiik et al.   ANIMAL GENETICS

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Dog Models for Blinding Inherited Retinal Dystrophies

(2015) Simon M. Petersen-Jones et al.   Human Gene Therapy Clinical Development

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17

(2015) Oliver P. Forman et al.   PLoS One

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

(2014) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers

(2014) Louise M. Downs et al.   PLoS One

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone–Rod Dystrophy

(2013) Elsa Lhériteau et al.   MOLECULAR THERAPY

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

(2013) Saija J. Ahonen et al.   PLoS One

Rhodopsin homeostasis and retinal degeneration: lessons from the fly

(2013) Bo Xiong et al.   TRENDS IN NEUROSCIENCES

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation inC2orf71

(2012) L. M. Downs et al.   ANIMAL GENETICS

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

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

Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy

(2012) Lolita Petit et al.   MOLECULAR THERAPY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Drosophila Fatty Acid Transport Protein Regulates Rhodopsin-1 Metabolism and Is Required for Photoreceptor Neuron Survival

(2012) Pierre Dourlen et al.   PLoS Genetics

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations

(2011) Louise M. Downs et al.   PLoS One

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd)

(2010) Orly Goldstein et al.   GENOMICS

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

(2010) Regina Kropatsch et al.   MOLECULAR AND CELLULAR PROBES

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

(2009) Anna V. Kukekova et al.   MAMMALIAN GENOME

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene

(2009) Gabriele Dekomien et al.   NEUROGENETICS

Accumulation of Rhodopsin in Late Endosomes Triggers Photoreceptor Cell Degeneration

(2009) Yashodhan Chinchore et al.   PLoS Genetics

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

(2008) A. C. Wiik et al.   GENOME RESEARCH

The absence of the clathrin-dependent endocytosis in rod bipolar cells of the FVB/N mouse retina

(2008) Sung-Jin Park et al.   NEUROSCIENCE LETTERS