Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7

COLQvariant associated with Devon Rex and Sphynx feline hereditary myopathy

(2015) Barbara Gandolfi et al.   ANIMAL GENETICS

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

(2015) Juyuan Guo et al.   BMC Veterinary Research

A NovelKCNJ13Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

(2015) Bikash R. Pattnaik et al.   HUMAN MUTATION

DNA mutations of the cat

(2015) Leslie A Lyons   JOURNAL OF FELINE MEDICINE AND SURGERY

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

(2015) D. Gilliam et al.   MOLECULAR GENETICS AND METABOLISM

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

(2015) Samuel G. Jacobson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

(2015) Cali E. Willet et al.   PLoS One

Companion animals: Translational scientist’s new best friends

(2015) Amir Kol et al.   Science Translational Medicine

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

(2015) Neil A. Miller et al.   Genome Medicine

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

Whole genome sequencing confirmsKITinsertions in a white cat

(2014) Mirjam Frischknecht et al.   ANIMAL GENETICS

SAMBLASTER: fast duplicate marking and structural variant read extraction

(2014) G. G. Faust et al.   BIOINFORMATICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Gene therapy for eye as regenerative medicine? Lessons from RPE65 gene therapy for Leber's Congenital Amaurosis

(2014) Elizabeth P. Rakoczy et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Japanese Bobtail: vertebral morphology and genetic characterization of an established cat breed

(2014) Rachel E Pollard et al.   JOURNAL OF FELINE MEDICINE AND SURGERY

Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats

(2014) Hasan Alhaddad et al.   MAMMALIAN GENOME

Recent novel approaches for population genomics data analysis

(2014) Kimberly R. Andrews et al.   MOLECULAR ECOLOGY

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

(2014) Juyuan Guo et al.   MOLECULAR GENETICS AND METABOLISM

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

(2014) Hans D Daetwyler et al.   NATURE GENETICS

Diagnostic Clinical Genome and Exome Sequencing

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Resistance to Therapy in Acute Promyelocytic Leukemia

(2014) Jacqueline Lehmann-Che et al.   NEW ENGLAND JOURNAL OF MEDICINE

The UCSC Genome Browser database: 2015 update

(2014) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

(2014) Barbara Gandolfi et al.   PLoS One

Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

(2014) Michael J. Montague et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Hes7 3′UTR is required for somite segmentation function

(2014) Takeshi Fujimuro et al.   Scientific Reports

Clinical Exome Sequencing

(2014) Christopher M. Gomez et al.   JAMA Neurology

Oscillatory links of Fgf signaling and Hes7 in the segmentation clock

(2013) Yukiko Harima et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed

(2013) Barbara Gandolfi et al.   PLoS One

Genomic Medicine: A Decade of Successes, Challenges, and Opportunities

(2013) J. J. McCarthy et al.   Science Translational Medicine

A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats

(2013) Barbara Gandolfi et al.   Scientific Reports

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Selkirk Rex: Morphological and Genetic Characterization of a New Cat Breed

(2012) Serina Filler et al.   JOURNAL OF HEREDITY

Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats

(2012) Katherine P Ponder et al.   MOLECULAR THERAPY

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

(2012) Mei Hong Tan et al.   PLoS One

First WNK4-Hypokalemia Animal Model Identified by Genome-Wide Association in Burmese Cats

(2012) Barbara Gandolfi et al.   PLoS One

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Accurate and comprehensive sequencing of personal genomes

(2011) S. S. Ajay et al.   GENOME RESEARCH

Light whole genome sequence for SNP discovery across domestic cat breeds

(2010) James C Mullikin et al.   BMC GENOMICS

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

(2010) Duncan B Sparrow et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Long-term Amelioration of Feline Mucopolysaccharidosis VI After AAV-mediated Liver Gene Transfer

(2010) Gabriella Cotugno et al.   MOLECULAR THERAPY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

(2008) D. B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY