Publications by authors named "Ellenore Martin"

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The value of functional genomics: a contingent valuation.
Francisco Santos Gonzalez, Ellenore Martin, Madeleine Harris, Sarah Casauria, The Australian Undiagnosed Diseases Network Udn-Aus

Expert Rev Pharmacoecon Outcomes Res· December 2025

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The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rocio Rius, Alison G Compton, Naomi L Baker, Shanti Balasubramaniam, Stephanie Best, Martin B Delatycki, Ellenore M Martin

Genet Med· January 2025

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Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in .
Wui-Kwan Wong, Christopher Troedson, Russell C Dale, Tony Roscioli, Michael Field, Ellenore M Martin

Mov Disord Clin Pract· September 2022

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Men with premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).
Ellenore M Martin, Ying Zhu, Claudine M Kraan, Kishore R Kumar, David E Godler

J Med Genet· July 2022

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Martina Wilke, E Martina Bebin, Martin B Delatycki, Ellenore Martin

Am J Hum Genet· June 2021

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Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Rachel Austin, Michael C J Quinn, Clifford Afoakwah, Alejandro Metke-Jimenez, Hugo Leroux, Ellenore M Martin

Int J Cardiol· May 2021

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Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells.
Matilda Jackson, Ainslie Derrick Roberts, Ellenore Martin, Nathan Rout-Pitt, Stan Gronthos

Mol Genet Metab· April 2015

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