Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease

Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network

(2015) David N. Palmer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Livestock Models in Translational Medicine

(2015) J. A. Roth et al.   ILAR JOURNAL

Insights into Morphology and Disease from the Dog Genome Project

(2014) Jeffrey J. Schoenebeck et al.   Annual Review of Cell and Developmental Biology

The sheep genome illuminates biology of the rumen and lipid metabolism

(2014) Y. Jiang et al.   SCIENCE

Phase II and Phase III attrition rates 2011–2012

(2013) John Arrowsmith et al.   NATURE REVIEWS DRUG DISCOVERY

Genomic responses in mouse models poorly mimic human inflammatory diseases

(2013) Junhee Seok et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Genetic testing for phenotype-causing variants in sheep and goats

(2012) Gesine Lühken   MOLECULAR AND CELLULAR PROBES

Exome Sequencing Deciphers Rare Diseases

(2011) Amy Maxmen   CELL

Applications of Next-Generation Sequencing Technologies to Diagnostic Virology

(2011) Luisa Barzon et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mouse models for LRRK2 Parkinson's disease

(2011) Qing Xu et al.   PARKINSONISM & RELATED DISORDERS

The Promise of Neuroprotective Agents in Parkinson?s Disease

(2011) Stacey E. Seidl et al.   Frontiers in Neurology

Gaucher disease in sheep

(2010) Litsa Karageorgos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tay-Sachs disease in Jacob sheep

(2010) Paola A. Torres et al.   MOLECULAR GENETICS AND METABOLISM

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

(2010) Clare V. Logan et al.   MOLECULAR NEUROBIOLOGY

Bovine Genome Database: integrated tools for genome annotation and discovery

(2010) Christopher P. Childers et al.   NUCLEIC ACIDS RESEARCH

Pathology of GM2 Gangliosidosis in Jacob Sheep

(2010) B. F. Porter et al.   VETERINARY PATHOLOGY

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

(2009) Meral Gunay-Aygun et al.   JOURNAL OF PEDIATRICS

Clinical and molecular characterization of a re-established line of sheep exhibiting hemophilia A

(2009) C. D. PORADA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Validation of the sheep as a large animal model for the study of vertebral osteoporosis

(2008) M. R. Zarrinkalam et al.   EUROPEAN SPINE JOURNAL

A decade of progress since the birth of Dolly

(2008) Ian Wilmut et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>>>A) leading to excision of exon 3

(2007) Tony Frugier et al.   NEUROBIOLOGY OF DISEASE