Paul Lockhart

Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1.

Kayli C Davies, Kiymet Bozaoglu, Paul J Lockhart

Journal article  |  2023  |  Stem Cell Res

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder predominantl..

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

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

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

Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy Hc Wu, Susan E Tomlinson, Stephen Tisch, et al.

Journal article  |  2023  |  Am J Hum Genet

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular dia..

Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II

Emma Macdonald-Laurs, Aaron EL Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey

Journal article  |  2022  |  EPILEPSIA

OBJECTIVE: Favorable seizure outcome is reported following resection of bottom-of-sulcus dysplasia (BOSD). We assessed the distrib..

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

Wei Shern Lee, Emma Macdonald-Laurs, Sarah EM Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart

Journal article  |  2022  |  EPILEPSIA OPEN

Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a chil..

RFC1-Related Disease: Molecular and Clinical Insights.

Kayli Davies, David J Szmulewicz, Louise A Corben, Martin Delatycki, Paul J Lockhart

Journal article  |  2022  |  Neurol Genet

In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a..

Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II

Wei Shern Lee, Richard J Leventer, Paul J Lockhart

Journal article  |  2022  |  BRAIN

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

Haloom Rafehi, Cherie Green, Kiymet Bozaoglu, Greta Gillies, Martin B Delatycki, Paul J Lockhart, Ingrid E Scheffer, Melanie Bahlo

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be di..

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

CA Stutterd, A Vanderver, PJ Lockhart, G Helman, K Pope, E Uebergang, C Love, MB Delatycki, D Thorburn, MT Mackay, H Peters, AJ Kornberg, C Patel, V Rodriguez-Casero, M Waak, J Silberstein, A Sinclair, M Nolan, M Field, MR Davis, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF MEDICAL GENETICS

BACKGROUND: Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central ..

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, et al.

Journal article  |  2022  |  BRAIN

Reelin, a large extracellular protein, plays several critical roles in brain development and function. It is encoded by RELN, firs..