Louise M Downs

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

Louise M Downs, Berit Wallin-Håkansson, M. E. G. Boursnell et al. · PLoS ONE · 2011 · 60 citations · Full text

Late‐onset progressive retinal atrophy in the <scp>G</scp>ordon and <scp>I</scp>rish <scp>S</scp>etter breeds is associated with a frameshift mutation in <i>C2orf71</i>

Louise M Downs, Jerold S. Bell, Julia Freeman et al. · Animal Genetics · 2012 · 50 citations · Full text

An Intronic SINE Insertion in &lt;i&gt;FAM161A&lt;/i&gt; that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers

Louise M Downs, Cathryn S. Mellersh · Figshare · 2016 · 41 citations · Full text

Genetic screening for <scp>PRA</scp>‐associated mutations in multiple dog breeds shows that <scp>PRA</scp> is heterogeneous within and between breeds

Louise M Downs, Rebekkah J. Hitti‐Malin, Silvia Pregnolato et al. · Veterinary Ophthalmology · 2013 · 41 citations

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by<i>NPHP5</i>mutation

Louise M Downs, Erin M. Scott, Artur V. Cideciyan et al. · Human Molecular Genetics · 2016 · 41 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +16