Chloe Stutterd

Developmental delay can precede neurologic regression in metachromatic leukodystrophy

Laura A Adang, Samuel Groeschel, Chloe Grzyb, Florian S Eichler, Jamie L Fraser, Lisa Emrick, Keith Van Haren, Stephanie Keller, Michele Poe, John Bernat, Joshua L Bonkowsky, Genevieve Bernard, Chloe Stutterd, Paul J Orchard, Ashish Gupta, Merete Ljungberg, Sabine Grønborg, Francesca Fumagalli, Saskia Elgun, Christiane Kehrer, et al.

Journal article  |  2023  |  Molecular Genetics and Metabolism

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, Lyndon Gallacher, David J Amor, Himanshu Goel, Lilian Downie, Chloe A Stutterd, Emma I Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L Oliver, Anne Baxter, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic co..

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

Zimeng Ye, Sufang Lin, Xia Zhao, Mark F Bennett, Natasha J Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, et al.

Journal article  |  2022  |  HUMAN MUTATION

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10..

The Complexity Around Mosaic Embryo Decision Making– A Genetic Counselling Perspective

Maddie TEED, Abbie JEDWAB, Chloe STUTTERD, Kelli SORBY, Alice WEEKS

Journal article  |  2022  |  Fertility & Reproduction

Background: In recent years there is an evident increase in the interest of transferring mosaic embryos. Our genetic counselling t..

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, Julie McGaughran, Emma Kowal, Libby Massey, Gail Garvey, Hugh Dawkins, Misty Jenkins, Yin Paradies, Glenn Pearson, Chloe A Stutterd, Gareth Baynam, Margaret Kelaher

Journal article  |  2022  |  Nat Commun

Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine..

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, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter

Journal article  |  2022  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anom..

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 ..

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

Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krueger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, et al.

Journal article  |  2022  |  BRAIN

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in..

The Introduction and Development of a Genetic Counsellor-led Cardiac Genetics Service in a Metropolitan Hospital

H Chalinor, S Bodek, J Bojadzieva, O Farouque, D Hare, J Johns, L Kearney, H Lim, T Lin, S Mirzaee, J Ramchand, L Salmon, C Stutterd, A Teh, G Valente, M Wallis

Journal article  |  2022  |  Heart, Lung and Circulation

The use of genomic sequencing technologies to diagnose rare neurological disease

Chloe Alice Stutterd

Thesis / Dissertation  |  2022

Background Neurological diseases with presumed genetic aetiology contribute a significant burden of disease in the population, pa..