Greta Gillies

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

P. Lockhart, S. Haas, K. Hogan, 2014, American journal of human genetics.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

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

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

N. Brown, P. Lockhart, I. Scheffer, 2019, bioRxiv.

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

P. Lockhart, G. Jackson, A. Harvey, 2020, Neurology.

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

P. Lockhart, P. Crino, W. Maixner, 2015, Neurology.

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

Katherine R. Smith, P. Lockhart, M. Mackay, 2014, International journal of stroke : official journal of the International Stroke Society.

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

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

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

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.

P. Lockhart, I. Scheffer, M. Bahlo, 2022, European journal of human genetics : EJHG.

A family study implicates GBE1 in the etiology of autism spectrum disorder

Bradley P. Coe, B. Coe, N. Brown, 2021, Human mutation.

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

P. Lockhart, I. Scheffer, S. Berkovic, 2019, Annals of clinical and translational neurology.

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

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

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

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

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

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

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

P. Lockhart, E. Storey, M. Bahlo, 2016, Neurology: Genetics.

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, medRxiv.

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

P. Lockhart, I. Scheffer, S. Berkovic, 2018, Neurology: Genetics.

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

P. Lockhart, P. Crino, M. Bahlo, 2015, Annals of neurology.

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

P. Lockhart, I. Scheffer, R. Lister, 2021, Brain communications.

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

M. Zeviani, Z. Shah, H. Jacobs, 2005, European Journal of Human Genetics.

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

P. Lockhart, I. Scheffer, G. Jackson, 2015, Annals of clinical and translational neurology.

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

P. Lockhart, R. Djaldetti, M. Bahlo, 2019, Parkinsonism & related disorders.

Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology

P. Lockhart, S. Haas, K. Hogan, 2014 .

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

Liam G. Fearnley, P. Lockhart, M. Eberle, 2023, American journal of human genetics.

Rasmussen encephalitis tissue transfer program

P. Lockhart, M. Smyth, C. Cepeda, 2016, Epilepsia.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

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

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, American journal of human genetics.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.