Chloe A. Stutterd

Flemington Road
Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 37 publications

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

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

Journal: Genome research

Published: June 11, 2024

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

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

Journal: Molecular genetics and metabolism

Published: March 19, 2024

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

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

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

Journal: European journal of human genetics : EJHG

Published: September 07, 2022

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Journal: Human mutation

Published: March 10, 2022

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

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

Journal: American journal of medical genetics. Part A

Published: February 20, 2022

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

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

Journal: European journal of medical genetics

Published: January 23, 2022

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

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

Journal: Nature communications

Published: October 07, 2021

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

Journal: Cold Spring Harbor molecular case studies

Published: July 01, 2021

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

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

Journal: Journal of medical genetics

Published: May 02, 2021

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Journal: Brain : a journal of neurology

Published: March 12, 2021

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

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

Journal: Pediatric neurology

Published: March 08, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026