Publications by authors named "Jacqui Russell"

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Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy.
Michelle Anne Farrar, Melissa Mandarakas, Nancy Briggs, Anita G Cairns, Karen Herbert, Jacqui Russell

Neurology· July 2025

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An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.
Samantha A Sandelowsky, Alison McEwen, Jacqui Russell, Kirsten Boggs, Rosie Junek

Int J Neonatal Screen· April 2025

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Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Louisa Adams, Arthavan Selvanathan, Kiera J Batten, Nancy van Doorn, Susan Thompson, Jacqui Russell

JIMD Rep· September 2023

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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.
Didu Kariyawasam, Arlene D'Silva, David Mowat, Jacqui Russell, Hugo Sampaio

Eur J Hum Genet· December 2022

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Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, Catherine Bonifant, John Christodoulou, Jacqui Russell

Intern Med J· January 2022

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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René G Feichtinger, Matias Wagner, Jacqui Russell, Russell C Dale

Genet Med· September 2021

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Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René G Feichtinger, Matias Wagner, Jacqui Russell, Russell C Dale

Genet Med· September 2021

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