List of works - Greta Gillies

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

scientific article

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

scientific article published in January 2005

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

scientific article published on 18 August 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

scientific article published on 12 March 2015

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

scientific article published on 15 April 2015

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

scientific article published on 20 June 2019

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

scientific article published on 18 October 2016

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

scientific article published on 01 August 2014

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

scientific article

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

scientific article published on 22 March 2019

Rasmussen encephalitis tissue transfer program

scientific article published in June 2016

Jews and the British Empire c.1900

scholarly article in History Workshop Journal, vol. 63 no. 1, January 2007

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

scientific article published on 21 January 2021

Genetic characterisation identifies bottom-of-sulcus dysplasia as an mTORopathy

scientific article published on 26 August 2020

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

scientific article published on 17 June 2019

List of works by Greta Gillies

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

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

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Cornelia de Lange syndrome in diverse populations

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Rasmussen encephalitis tissue transfer program

Jews and the British Empire c.1900

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Genetic characterisation identifies bottom-of-sulcus dysplasia as an mTORopathy

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA