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G. Gillies · SciRah

Researcher profile · Semantic Scholar

G. Gillies

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G. Gillies — researcher profile on SciRah

h-index: 18
Works: 37
Citations: 1,677

Most-cited papers

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Gabrielle R. Wilson, Joe C. H. Sim, C. Mclean, Maila Giannandrea +29 more
2014American Journal of Human Genetics232 citations Open access
Semantic Scholar
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
H. Rafehi, D. Szmulewicz, M. Bennett, N. Sobreira +29 more
2019American Journal of Human Genetics224 citations Open access
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2022American Journal of Human Genetics144 citations Open access
Semantic Scholar
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Joe C. H. Sim, T. Scerri, Miriam Fanjul-Fernández, Jessica R. Riseley +16 more
2015Annals of Neurology134 citations
Semantic Scholar
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
H. Jacobs, T. Hutchin, Timo Käppi, G. Gillies +12 more
2005European Journal of Human Genetics123 citations
Semantic Scholar
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
T. Scerri, J. Riseley, G. Gillies, K. Pope +15 more
2015Annals of Clinical and Translational Neurology101 citations Open access
Semantic Scholar
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh, D. Heron, Timothy J. Edwards, A. Quartier +49 more
2017Nature Genetics91 citations Open access
Semantic Scholar
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +64 more
2013Orphanet Journal of Rare Diseases78 citations Open access
Semantic Scholar
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
W. Lee, Sarah E. M. Stephenson, K. Howell, K. Pope +10 more
2019Annals of Clinical and Translational Neurology71 citations Open access
Semantic Scholar
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
R. Leventer, T. Scerri, Ashley P. L. Marsh, K. Pope +9 more
2015Neurology69 citations Open access
Semantic Scholar
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Zi-Meng Ye, Zac Chatterton, Jahnvi Pflueger, J. Damiano +20 more
2021Brain Communications65 citations Open access
Semantic Scholar
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2023American Journal of Human Genetics60 citations Open access
Semantic Scholar
Cornelia de Lange Syndrome in Diverse Populations
Leah Dowsett, A. R. Porras, P. Kruszka, Brandon Davis +63 more
2019American Journal of Medical Genetics. Part A40 citations Open access
Semantic Scholar
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
W. Lee, Sarah E. M. Stephenson, K. Pope, G. Gillies +8 more
2020Neurology31 citations
Semantic Scholar
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
Michael S. Hildebrand, A. Harvey, Stephen Malone, J. Damiano +16 more
2018Neurology: Genetics31 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C. H. Sim, S. White, E. Fitzpatrick, Gabrielle R. Wilson +12 more
2014Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
D. Amor, Ashley P. L. Marsh, E. Storey, Rick M. Tankard +7 more
2016Neurology: Genetics21 citations Open access
Semantic Scholar
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.
Sarah E. M. Stephenson, R. Djaldetti, H. Rafehi, Gabrielle R. Wilson +3 more
2019Parkinsonism & Related Disorders15 citations
Semantic Scholar
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype
Krysta J. Trevis, Natasha J. Brown, Cherie C Green, P. Lockhart +14 more
2019bioRxiv13 citations Open access
Semantic Scholar
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
H. Rafehi, L. Fearnley, Justin L. Read, P. Snell +38 more
2025Genome Research10 citations Open access
Semantic Scholar
Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy
Katherine R. Smith, R. Leventer, M. Mackay, K. Pope +5 more
2014International Journal of Stroke10 citations
Semantic Scholar
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
H. Rafehi, Cherie C Green, K. Bozaoglu, G. Gillies +4 more
2022European Journal of Human Genetics7 citations Open access
Semantic Scholar
The phenotype of floating-harbor syndrome
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +57 more
20166 citations
Semantic Scholar
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
K. Davies, H. Rafehi, L. Fearnley, P. Snell +16 more
2025Cerebellum5 citations
Semantic Scholar
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, P. Snell, W. Lee +12 more
2025Brain Communications4 citations Open access
Semantic Scholar
A family study implicates GBE1 in the etiology of autism spectrum disorder
Miriam Fanjul-Fernández, Natasha J. Brown, Peter F. Hickey, Peter Diakumis +18 more
2021Human Mutation3 citations Open access
Semantic Scholar
Rasmussen encephalitis tissue transfer program
C. Kruse, C. Pardo, A. Hartman, G. Jallo +50 more
2016Epilepsia3 citations Open access
Semantic Scholar
Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +64 more
20132 citations
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)
H. Rafehi, J. Read, D. Szmulewicz, K. Davies +27 more
2022medRxiv1 citations Open access
Semantic Scholar
Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS
H. Rafehi, D. Szmulewicz, M. Bennett, N. Sobreira +29 more
2019bioRxiv1 citations Open access
Semantic Scholar
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski +38 more
2025medRxiv0 citations Open access
Semantic Scholar
Validation of new bioinformatic tools to identify expanded repeats: a non-reference 1 intronic pentamer expansion in RFC1 causes CANVAS 2
H. Rafehi, D. Szmulewicz, M. Bennett, N. Sobreira +29 more
20190 citations
Semantic Scholar
the Victorian Collaborative Autism Study: A family and community study of the genetics of autism spectrum disorder
I. Scheffer, K. Williams, Cherie C Green, K. Pereira +8 more
20160 citations
Semantic Scholar
Sim et al-2015-Annals of Neurology.sup-1
Joe C. H. Sim, T. Scerri, Miriam Fanjul-Fernández, J. Riseley +16 more
20160 citations
Semantic Scholar
Identification and characterisation of a novel gene for cardiomyopathy
D. Phelan, Gabrielle R. Wilson, K. Pope, G. Gillies +10 more
20140 citations
Semantic Scholar
Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology
Gabrielle R. Wilson, C. Mclean, Maila Giannandrea, C. Galea +25 more
20140 citations
Semantic Scholar

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