Rebekkah J. Hitti‐Malin

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 · 43 citations

Life Sciences, Genetics, Molecular Genetics +16

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas et al. · Genetics in Medicine · 2022 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Oliver P. Forman, Rebekkah J. Hitti‐Malin, M. E. G. Boursnell et al. · Mammalian Genome · 2016 · 33 citations

Life Sciences, Genetics, Molecular Genetics +16

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

Joe Fenn, M. E. G. Boursnell, Rebekkah J. Hitti‐Malin et al. · BMC Genetics · 2016 · 32 citations · Full text

Life Sciences, Neurology, Neuroscience +17

An Inversion Disrupting <i>FAM134B</i> Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Oliver P. Forman, Rebekkah J. Hitti‐Malin, Louise Pettitt et al. · G3 Genes Genomes Genetics · 2016 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14