Chloe A Stutterd

Richard J Leventer 7 collaborations

Zornitza Stark 5 collaborations

Martin B Delatycki 5 collaborations

Paul J Lockhart 5 collaborations

Cas Simons 4 collaborations

David J Amor 4 collaborations

George McGillivray 4 collaborations

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Guy Helman 3 collaborations

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C A Stutterd 2 collaborations

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Kate Pope 2 collaborations

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N J Lake 1 collaboration

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Paola Goffrini 1 collaboration

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G Helman 1 collaboration

K Pope 1 collaboration

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Ram Kumar 1 collaboration

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Affiliations

Publications (21)

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.

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

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

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

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

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

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

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

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Réseau de co-auteurs