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Paul Lockhart

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Group Leader

Murdoch Childrens Research Institute

Australia

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Determining the genetic control of Corpus Callosum development

Open Date: 2014-01-01

Close Date: 2016-12-01

Articles (20)

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Collaborators (13)

Anna Jansen

University of Antwerp

BELGIUM

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Darren Hocking

Lecturer

Victoria University

AUSTRALIA

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Silvia Velasco

Group Leader

Murdoch Childrens Research Institute

AUSTRALIA

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Blesson S

Assistant Professor

Presidency University

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Chiara Folland

University of Western Australia

AUSTRALIA

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Sarah Stephenson

Epilepsy Laboratory Head

Murdoch Childrens Research Institute

AUSTRALIA

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Venkata Hemanjani Bhavana

Baylor College of Medicine

UNITED STATES

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David J. Amor

University of Melbourne

AUSTRALIA

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Arianna Tucci

Clinical Reader in Genomic Medicine

Queen Mary University of London

UNITED KINGDOM

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Michael Gabbett

Queensland University of Technology

AUSTRALIA

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Snezana Maljevic

University of Melbourne

AUSTRALIA

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Christopher Reid

University of Melbourne

AUSTRALIA

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Kathryn North

Group Leader, Neuromuscular Research; Chief Investigator, Australian Genomic Health Alliance

Murdoch Childrens Research Institute

AUSTRALIA

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Paul Lockhart

Research Interests

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Recent Grants

Articles (20)

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.

Automated reanalysis of genomic data for rare disease diagnostics at scale

Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease

Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patients

Late-onset epileptic spasms: presentation, aetiology and outcome

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy

Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

An integrated framework for functional dissection of variable expressivity in genetic disorders

Comprehensive Characterisation of the <i>RFC1</i> Repeat in an Australian Cohort

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease

A CCG expansion in <i>ABCD3</i> causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)

Advancing molecular, phenotypic and mechanistic insights of <italic>FGF14 </italic>pathogenic expansions (SCA27B)

Collaborators (13)

Anna Jansen

Darren Hocking

Silvia Velasco

Blesson S

Chiara Folland

Sarah Stephenson

Venkata Hemanjani Bhavana

David J. Amor

Arianna Tucci

Michael Gabbett

Snezana Maljevic

Christopher Reid

Kathryn North

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