Greta Gillies

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 275 citations · Full text

Life Sciences, Neurology, Neuroscience +16

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 164 citations · Full text

Life Sciences, Neurology, Neuroscience +10

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator <i>NPRL3</i>

Joe C. Sim, Thomas Scerri, Miriam Fanjul‐Fernández et al. · Annals of Neurology · 2015 · 135 citations

Life Sciences, Genetics, Neurology +17

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Howard T. Jacobs, Timothy Hutchin, Timo Käppi et al. · European Journal of Human Genetics · 2004 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14