Publications by authors named "Chloe Stutterd"

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A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Haloom Rafehi, Liam G Fearnley, Justin Read, Penny Snell, Kayli C Davies, Chloe Stutterd

Genome Res· April 2025

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Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi, Chloe A Stutterd

Mol Genet Metab· August 2024

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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Mathew Wallis, Simon D Bodek, Jacob Munro, Haloom Rafehi, Mark F Bennett, Chloe Stutterd

Orphanet J Rare Dis· August 2024

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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
David I Francis, Zornitza Stark, Ingrid E Scheffer, Tiong Yang Tan, Krithika Murali, Chloe A Stutterd

Eur J Hum Genet· May 2023

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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F Bennett, Natasha J Brown, Chloe Stutterd

Hum Mutat· December 2022

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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Chloe Alice Stutterd

Am J Med Genet A· December 2022

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Chloe Stutterd

Brain· September 2022

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Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Chloe A Stutterd

J Med Genet· August 2022

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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.
Joanne Luke, Philippa Dalach, Lindsay Tuer, Ravi Savarirayan, Angeline Ferdinand, Chloe A Stutterd

Nat Commun· August 2022

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Somatic variant (p.R132C) in an adult male with Maffucci syndrome.
Natasha J Brown, Zimeng Ye, Chloe Stutterd, Sureshni I Jayasinghe, Amy Schneider

Cold Spring Harb Mol Case Stud· December 2021

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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Chloe A Stutterd, Alexa Kidd, Chris Florkowski, Edward Janus, Miriam Fanjul

Am J Med Genet A· October 2021

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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Guy Helman, Ayelet Zerem, Akshata Almad, Julia L Hacker, Sarah Woidill, Chloe A Stutterd

Pediatr Neurol· August 2021

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Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.
Ruth O Braden, Jessica O Boyce, Chloe A Stutterd, Kate Pope, Himanshu Goel

Neurology· April 2021

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Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Kenneth A Myers, Carla Marini, Gemma L Carvill, Amy McTague, Julie Panetta, Chloe Stutterd

Neurol Genet· April 2021

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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Menno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Chloe A Stutterd

Neurol Genet· April 2021

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Chloe A Stutterd

Eur J Hum Genet· February 2021

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Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
Aglaë Blauen, Chloe A Stutterd, Katrien Stouffs, Dana Dumitriu, Naima Deggouj

J Child Neurol· February 2021

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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Yanick J Crow, Heather Marshall, Gillian I Rice, Luis Seabra, Emma M Jenkinson, Chloe A Stutterd

Am J Med Genet A· January 2021

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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Chloe A Stutterd

J Neurol Sci· January 2021

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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Chloe Stutterd

Genet Med· December 2020

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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.
Chloe A Stutterd, Stefanie Brock, Katrien Stouffs, Miriam Fanjul-Fernandez, Paul J Lockhart

Brain Commun· December 2020

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung, Chloe A Stutterd

Mol Genet Genomic Med· November 2020

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Alan Ma, Saira Yousoof, John R Grigg, Maree Flaherty, Andre E Minoche, Chloe A Stutterd

Genet Med· October 2020

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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Johanna C Herkert, Judith M A Verhagen, Raquel Yotti, Alireza Haghighi, Dean G Phelan, Chloe Stutterd

Am Heart J· July 2020

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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
Carolyn Bursle, Eppie M Yiu, Alison Yeung, Jeremy L Freeman, Chloe Stutterd

JIMD Rep· January 2020

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