P. Lockhart

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Genetics.

Identification of a novel gene linked to parkin via a bi-directional promoter.

P. Lockhart, M. Farrer, A. West, 2003, Journal of molecular biology.

Expression and localization of the Parkin Co-Regulated Gene in mouse CNS suggests a role in ependymal cilia function

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2009, Neuroscience Letters.

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

P. Lockhart, G. Egan, M. Delatycki, 2010, Human molecular genetics.

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.

α-synuclein gene haplotypes are associated with Parkinson’s disease

Matthew J. Farrer, John Hardy, Mariza de Andrade, 2001 .

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Peter Nürnberg, Ivan Dikic, Melanie Bahlo, 2014, Nature Genetics.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

P. Lockhart, Z. Stark, G. McGillivray, 2017, American journal of medical genetics. Part A.

Cell and gene therapy for Friedreich ataxia: progress to date.

P. Lockhart, L. Corben, A. Pébay, 2014, Human gene therapy.

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.

P. Lockhart, D. Newgreen, A. Grimes, 1997, Human molecular genetics.

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population.

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2009, Parkinsonism & related disorders.

Long Range Regulation of Human FXN Gene Expression

P. Lockhart, J. Sarsero, M. Delatycki, 2011, PloS one.

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

N. Brown, P. Lockhart, I. Scheffer, 2019, Stem cell research.

Parental health spillover effects of paediatric rare genetic conditions

P. Lockhart, I. Scheffer, J. Christodoulou, 2020, Quality of Life Research.

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

P. Lockhart, M. Bahlo, M. Delatycki, 2017, bioRxiv.

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

N. Brown, P. Lockhart, I. Scheffer, 2020, International journal of molecular sciences.

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

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

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

P. Lockhart, O. Gileadi, S. Halder, 2016, Molecular cell.

RING finger 1 mutations in Parkin produce altered localization of the protein.

P. Lockhart, M. Farrer, M. Cookson, 2003, Human molecular genetics.

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

P. Lockhart, D. Paterson, B. Nayagam, 2022, Journal of Molecular Medicine.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Timothy J. Edwards, P. Lockhart, C. Walsh, 2018, Human mutation.

Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism

P. Lockhart, M. Farrer, J. Kachergus, 2004, Movement disorders : official journal of the Movement Disorder Society.

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

P. Lockhart, M. Oulad-Abdelghani, D. Finkelstein, 2019, Molecular Brain.

Detecting tandem repeat expansions in cohorts sequenced with short-read 1 sequencing data 2 3

P. Lockhart, M. Bahlo, M. Delatycki, 2018 .

Detecting known repeat expansions with standard protocol next generation sequencing, towards developing a single screening test for neurological repeat expansion disorders

P. Lockhart, M. Bahlo, M. Delatycki, 2017 .

ASK1 inhibition: a therapeutic strategy with multi-system benefits

P. Lockhart, B. Nayagam, Jacqueline M. Ogier, 2020, Journal of Molecular Medicine.

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

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

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

P. Lockhart, A. Harvey, H. Adle-Biassette, 2021, Annals of clinical and translational neurology.

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

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

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

P. Lockhart, M. Farrer, S. Lincoln, 2002, Gene.

Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment.

P. Lockhart, Juliet M. Taylor, Kate M. Brody, 2012, Experimental cell research.

Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)

P. Lockhart, J. Nutt, M. Farrer, 2004, Movement disorders : official journal of the Movement Disorder Society.

Oligomeric α-synuclein inhibits tubulin polymerization

P. Lockhart, Jing Zhang, Yan Wang, 2007 .

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

P. Lockhart, L. Richards, C. Depienne, 2020, Developmental medicine and child neurology.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

P. Lockhart, Ruili Li, D. Tomas, 2018, Scientific Reports.

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

P. Lockhart, E. Storey, M. Delatycki, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

alpha-Synuclein gene haplotypes are associated with Parkinson's disease.

D. Hernandez, A. Singleton, P. Lockhart, 2001, Human molecular genetics.

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.

P. Lockhart, M. Farrer, M. Hanson, 2002, Genetic testing.

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

P. Lockhart, D. Lynch, L. Corben, 2014, Movement disorders : official journal of the Movement Disorder Society.

Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis

P. Lockhart, M. Farrer, M. Hulihan, 2004, DNA sequence : the journal of DNA sequencing and mapping.

Identification and validation of control cell lines for accurate parkin dosage analysis

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2009, Journal of Neuroscience Methods.

Cloning and expression analysis of the sheep ceruloplasmin cDNA.

P. Lockhart, J. Mercer, 1999, Gene.

Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells.

P. Lockhart, J. Mercer, 2001, European journal of cell biology.

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

P. Lockhart, N. Brüggemann, K. Lohmann, 2020, Neurology.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Martin A. M. Reijns, P. Lockhart, I. Jackson, 2011, American journal of human genetics.

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

P. Lockhart, Soma Das, S. Perlman, 2020, Neurology: Genetics.

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.

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

P. Lockhart, M. Farrer, M. Delatycki, 2009, Parkinsonism & related disorders.

Short communication Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2009 .

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

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

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

P. Lockhart, K. Leslie, J. Sleigh, 2019, Anesthesiology.

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

P. Lockhart, M. Bahlo, M. Meisler, 2017, Annals of clinical and translational neurology.

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.

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

P. Lockhart, M. Baybis, P. Crino, 2018, Neurobiology of Disease.

RFC1-Related Disease

P. Lockhart, L. Corben, M. Delatycki, 2022, Neurology: Genetics.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue.

P. Lockhart, J. Mercer, H. Dahl, 2000, Biochimica et biophysica acta.

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

P. Lockhart, L. Gurrin, M. Aitken, 2012, European Journal of Human Genetics.

ARID1B-mediated disorders: Mutations and possible mechanisms.

P. Lockhart, S. White, Joe C H Sim, 2015, Intractable & rare diseases research.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

P. Lockhart, M. Bahlo, D. Amor, 2018, bioRxiv.

Eukaryotic expression vectors that replicate to low copy number in bacteria: transient expression of the Menkes protein.

P. Lockhart, J. Mercer, S. Firth, 1998, Plasmid.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

P. Lockhart, E. Stanley, A. Elefanty, 2018, Stem cell research.

Generation of RAB 39 B knockout isogenic human embryonic stem cell lines to model RAB 39 B-mediated Parkinson ' s disease

P. Lockhart, E. Stanley, A. Elefanty, 2018 .

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

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

Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum

Timothy J. Edwards, P. Lockhart, L. Richards, 2018, Neurology.

Parkin genetics: one model for Parkinson's disease.

P. Lockhart, M. Farrer, I. Mata, 2004, Human molecular genetics.

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

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

ASK1 inhibition: a therapeutic strategy with multi-system benefits

P. Lockhart, B. Nayagam, Jacqueline M. Ogier, 2020, Journal of Molecular Medicine.

Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B.

P. Lockhart, J. Mercer, Julian F. B. Mercer, 2000, Biochimica et biophysica acta.

Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases*

P. Lockhart, R. Reddel, A. Englezou, 1998, The Journal of Biological Chemistry.

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

P. Lockhart, R. Parton, J. Camakaris, 1998, Human molecular genetics.

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

P. Lockhart, A. Grimes, J. Mercer, 1994, FEBS letters.

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

P. Lockhart, T. Glover, A. Grimes, 1994, Nature Genetics.

The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein*

P. Lockhart, J. Mercer, S. Firth, 1999, The Journal of Biological Chemistry.

Ligand‐regulated transport of the Menkes copper P‐type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

P. Lockhart, J. Culvenor, P. Gleeson, 1996, The EMBO journal.

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux.

P. Lockhart, T. Glover, P. Shen, 1995, Human molecular genetics.

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures

P. Lockhart, Julia W. Chang, G. Mathern, 2021, Frontiers in Immunology.

Intravenously delivered aminoglycoside antibiotics, tobramycin and amikacin, are not ototoxic in mice

P. Lockhart, R. Burt, Jacqueline M. Ogier, 2019, Hearing Research.

Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease.

P. Lockhart, G. Meredith, J. Xu, 2005, Brain research. Molecular brain research.

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

P. Lockhart, M. Delatycki, M. O’Bryan, 2010, Fertility and sterility.

Isolation of a partial candidate gene for Menkes disease by positional cloning

Thomas W. Glover, Paul Lockhart, P. Lockhart, 1993, Nature Genetics.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

B. Coe, K. Friend, P. Lockhart, 2017, Nature Genetics.

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

P. Lockhart, L. Corben, J. Sarsero, 2015, Journal of Neurology.

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

David T. W. Jones, P. Lockhart, C. Greenwood, 2016, Acta Neuropathologica.

Degeneration in Different Parkinsonian Syndromes Relates to Astrocyte Type and Astrocyte Protein Expression

P. Lockhart, A. Lees, G. Halliday, 2009, Journal of neuropathology and experimental neurology.

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

P. Lockhart, E. Stanley, J. Schiesser, 2019, Stem cell research.

Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism

P. Lockhart, M. Farrer, M. Hulihan, 2009, Movement disorders : official journal of the Movement Disorder Society.

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Melanie Bahlo, Katherine R. Smith, P. Lockhart, 2011, Genome Biology.

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

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

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Functional analysis of the Menkes protein (MNK) expressed from a cDNA construct.

P. Lockhart, J. Camakaris, J. Mercer, 1999, Advances in experimental medicine and biology.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

P. Lockhart, S. Baulac, R. Leventer, 2022, International journal of molecular sciences.

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.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

P. Lockhart, S. Nelson, K. Zerres, 2016, Brain : a journal of 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.

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

Melanie Bahlo, P. Lockhart, M. Bahlo, 2018, American journal of human genetics.

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

P. Lockhart, P. Farlie, S. Holbert, 2007, Frontiers in bioscience : a journal and virtual library.

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

P. Lockhart, A. Kania, B. Weber, 2018, Cell reports.

ADGRV1 is implicated in myoclonic epilepsy

P. Lockhart, I. Scheffer, A. Boys, 2018, Epilepsia.

Dysmorphic neuron density is highest in the centre of epileptogenic cortical tubers

P. Lockhart, S. Petrou, S. Barton, 2019, bioRxiv.

Dysmorphic neuron density underlies intrinsic epileptogenicity of the centre of cortical tubers

P. Lockhart, S. Petrou, S. Barton, 2019 .

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

P. Lockhart, M. Bahlo, M. Delatycki, 2015, Neurology: Genetics.

Genetics of Complex Diseases The genetics of cardiomyopathy, new technologies and the path to personalised medicine

P. Lockhart, D. Phelan, P. James, 2013 .

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Monique M. Ryan, Alicia Oshlack, Peter Georgeson, 2017, Annals of clinical and translational neurology.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 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 SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Katherine R. Smith, P. Lockhart, M. Bahlo, 2013, European Journal of Human Genetics.

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

Timothy J. Edwards, Laura R. Fenlon, P. Lockhart, 2021, eLife.

The DCC receptor regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

Timothy J. Edwards, Laura R. Fenlon, P. Lockhart, 2020, bioRxiv.

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.

P. Lockhart, Z. Stark, D. Amor, 2010, European journal of medical genetics.

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

P. Lockhart, O. Gileadi, S. Halder, 2016, Molecular cell.

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Michael K. Hutchinson, P. Lockhart, A. Destée, 2011, American journal of human genetics.

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

P. Lockhart, G. Mellick, Yujing Gao, 2020, Frontiers in Neurology.

Clinical and Neuropathological Features Associated With Loss of RAB39B

P. Lockhart, K. Hogan, V. Martínez‐Cerdeño, 2020, Movement disorders : official journal of the Movement Disorder Society.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease

P. Lockhart, K. Bozaoglu, M. Farrer, 2018, Movement disorders : official journal of the Movement Disorder Society.

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

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

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

Bertram Müller-Myhsok, Manu Sharma, Thomas Gasser, 2004, American journal of human genetics.

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

P. Lockhart, I. Scheffer, H. Mefford, 2020, Neuron.

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.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

P. Lockhart, A. Vanderver, S. Grimmond, 2013, American journal of human genetics.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

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

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

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

Melanie Bahlo, P. Lockhart, M. Bahlo, 2018, F1000Research.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

P. Lockhart, A. Durr, L. Corben, 2016, Annals of neurology.

P. Lockhart, L. Corben, M. Delatycki, 2022 .

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

P. Lockhart, M. Bahlo, E. Janus, 2021, American journal of medical genetics. Part A.

Identi®cation and characterization of the human parkin gene promoter

P. Lockhart, L. Petrucelli, M. Farrer, 2001 .

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

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

Identification of a Novel Gene Linked to Parkin via a Bidirectional Promoter

P. Lockhart, M. Farrer, A. West, 2003 .

Biochemical characterization of torsinB.

A. Singleton, P. Lockhart, S. Lincoln, 2004, Brain research. Molecular brain research.

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

A. Singleton, P. Lockhart, M. Farrer, 2001, European Journal of Human Genetics.

Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

P. Lockhart, K. North, J. Payne, 2020, Stem cell research.

Advancing the diagnosis of repeat expansion disorders

P. Lockhart, 2022, The Lancet Neurology.

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.

Parkin Protects against the Toxicity Associated with Mutant α-Synuclein Proteasome Dysfunction Selectively Affects Catecholaminergic Neurons

P. Lockhart, L. Petrucelli, M. Farrer, 2002, Neuron.

Parkinson’s Disease and Parkin: Insights from Park2 Knockout Mice

P. Lockhart, Juliet M. Taylor, S. Stephenson, 2012 .

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

P. Lockhart, M. Farrer, J. Kachergus, 2004, Journal of Medical Genetics.

Mutant torsinA interacts with tyrosine hydroxylase in cultured cells

P. Lockhart, M. Cookson, M. Hutton, 2009, Neuroscience.

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

P. Lockhart, E. Stanley, D. Elliott, 2016, European heart journal.

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

P. Lockhart, Ruili Li, D. Tomas, 2018, Scientific Reports.

Functional association of the parkin gene promoter with idiopathic Parkinson's disease.

P. Lockhart, M. Farrer, D. Maraganore, 2002, Human molecular genetics.

Parkinson ’ s Disease and Parkin : Insights from Park 2 Knockout Mice

P. Lockhart, Juliet M. Taylor, S. Stephenson, 2019 .

Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases

P. Lockhart, M. Farrer, G. Halliday, 2007, Neurobiology of Disease.

It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG)

P. Lockhart, M. Farrer, Paul J. Lockhart, 2004, Movement disorders : official journal of the Movement Disorder Society.

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.

Regional and cellular localisation of Parkin Co-Regulated Gene in developing and adult mouse brain

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2008, Brain Research.

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

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

Resection of tuber centers only for seizure control in tuberous sclerosis complex

P. Lockhart, S. Barton, A. Harvey, 2021, Epilepsy Research.

Oligomeric alpha-synuclein inhibits tubulin polymerization.

P. Lockhart, Jing Zhang, Yan Wang, 2007, Biochemical and biophysical research communications.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations

P. Lockhart, C. Stutterd, A. Jansen, 2020, Journal of child neurology.

Multiplication of the α-synuclein gene is not a common disease mechanism in Lewy body disease

P. Lockhart, M. Farrer, J. Kachergus, 2007, Journal of Molecular Neuroscience.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

SCA-2 presenting as parkinsonism in an Alberta family

P. Lockhart, M. Farrer, Z. Wszolek, 2002, Neurology.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

P. Lockhart, V. Wickramasinghe, J. Christodoulou, 2021, Human molecular genetics.

Fetal alcohol spectrum disorders for mental health professionals - a brief review

P. Lockhart, 2001 .

Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II

Aaron E. L. Warren, P. Lockhart, J. Yang, 2022, Epilepsia.

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.

Using PANDA (Preventing the Abuse of Tobacco, Narcotics, Drugs, and Alcohol) in a Baltimore City Head Start Setting: A Preliminary Study

P. Lockhart, M. Mcnally, H. Belcher, 2000 .

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

P. Lockhart, G. Novarino, R. Leventer, 2018, European Journal of Human Genetics.

Rasmussen encephalitis tissue transfer program

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

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD

P. Lockhart, T. Cummins, M. Bellgrove, 2012, Behavioral and Brain Functions.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

P. Lockhart, A. Vanderver, R. Taft, 2019, JIMD reports.

Intracellular Localization and Loss of Copper Responsiveness of Mnk, the Murine Homologue of the Menkes Protein, in Cells from Blotchy (Moblo) and Brindled (Mobr) Mouse Mutants

P. Lockhart, J. Camakaris, J. Mercer, 1999 .

Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.

P. Lockhart, J. Camakaris, J. Mercer, 1999, Human molecular genetics.

13 Parkinson ’ s Disease and Parkin : Insights from Park 2 Knockout Mice

P. Lockhart, Juliet M. Taylor, S. Stephenson, 2012 .

Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond

P. Lockhart, W. Lee, 2023, Neural regeneration research.

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.

P. Lockhart, C. Stutterd, D. Francis, 2020, European journal of medical genetics.

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.

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease.

P. Lockhart, M. Farrer, J. Kachergus, 2004, Journal of molecular neuroscience : MN.

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Michael K. Hutchinson, P. Lockhart, A. Destée, 2011, American journal of human genetics.

Clinical seizure manifestations in the absence of synaptic connections.

P. Lockhart, S. Barton, A. Harvey, 2021, Epileptic disorders : international epilepsy journal with videotape.