Publications by authors named "Giulia Valente"

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"Bubbly heart," a case report of Morgagni hernia delayed diagnosis in patient with Down syndrome: The hernia is in the details.
Valerio D'Agostino, Giulia Valente, Emanuela Federico, Fiorentino Mondillo

Radiol Case Rep· August 2025

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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, Giulia Valente

Orphanet J Rare Dis· August 2024

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Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.
Amali Mallawaarachchi, Erik Biros, Trudie Harris, Bruce Bennetts, Tiffany Boughtwood, Giulia Valente

Hum Genomics· August 2024

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Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Kushani Jayasinghe, Erik Biros, Trudie Harris, Alasdair Wood, Rosie O'Shea, Giulia Valente

Kidney Int Rep· August 2024

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Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Giulia Valente

Clin J Am Soc Nephrol· July 2024

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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, Giulia Valente

Hum Mutat· December 2022

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Clinical impact of whole-genome sequencing in patients with early-onset dementia.
Aamira J Huq, Bryony Thompson, Mark F Bennett, Adam Bournazos, Shobhana Bommireddipalli, Giulia Valente

J Neurol Neurosurg Psychiatry· July 2022

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Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Giulia M Valente, David J Amor, Liane J Ioannou, Alison D Archibald

Aust N Z J Obstet Gynaecol· April 2021

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, Giulia Valente

Genet Med· 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, Giulia Valente

Genet Med· December 2020

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Defective Mitochondrial Pyruvate Flux Affects Cell Bioenergetics in Alzheimer's Disease-Related Models.
Alice Rossi, Giulia Rigotto, Giulia Valente, Valentina Giorgio, Emy Basso

Cell Rep· February 2020

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Purification of Functional F-ATP Synthase from Blue Native PAGE.
Chiara Galber, Giulia Valente, Sophia von Stockum, Valentina Giorgio

Methods Mol Biol· June 2019

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A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Giulia Valente

J Genet Couns· April 2019

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Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Gemma R Brett, Ella J Wilkins, Emma T Creed, Kirsty West, Anna Jarmolowicz, Giulia M Valente

J Genet Couns· September 2018

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