Publications by authors named "Hayley Salvemini"

4Publications

Professional regulation for Australasian genetic counselors.

Authors:
Cass Hoskins Clara Gaff Alison McEwen Ivan Macciocca Amy Pearn Carolyn Shalhoub Hayley Salvemini Jennifer Berkman Kate E Riley Rachel Williams Michael Milward Mary-Anne Young

J Genet Couns 2020 Nov 5. Epub 2020 Nov 5.

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

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November 2020

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Authors:
Marisa W Friederich Sharita Timal Christopher A Powell Cristina Dallabona Alina Kurolap Sara Palacios-Zambrano Drago Bratkovic Terry G J Derks David Bick Katelijne Bouman Kathryn C Chatfield Nadine Damouny-Naoum Megan K Dishop Tzipora C Falik-Zaccai Fuad Fares Ayalla Fedida Ileana Ferrero Renata C Gallagher Rafael Garesse Micol Gilberti Cristina González Katherine Gowan Clair Habib Rebecca K Halligan Limor Kalfon Kaz Knight Dirk Lefeber Laura Mamblona Hanna Mandel Adi Mory John Ottoson Tamar Paperna Ger J M Pruijn Pedro F Rebelo-Guiomar Ann Saada Bruno Sainz Hayley Salvemini Mirthe H Schoots Jan A Smeitink Maciej J Szukszto Hendrik J Ter Horst Frans van den Brandt Francjan J van Spronsen Joris A Veltman Eric Wartchow Liesbeth T Wintjes Yaniv Zohar Miguel A Fernández-Moreno Hagit N Baris Claudia Donnini Michal Minczuk Richard J Rodenburg Johan L K Van Hove

Nat Commun 2018 10 3;9(1):4065. Epub 2018 Oct 3.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.

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October 2018

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

Authors:
Kate E Riley Hayley Salvemini Eric Haan Lara Fitzgerald Kirsty Stallard Sarah Borrie Electra Pontikinas Anne Baxendale

J Genet Couns 2017 02 21;26(1):159-172. Epub 2016 Jul 21.

South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), 72 King William Road, North Adelaide, SA, 5006, Australia.

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February 2017

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Authors:
Dylan A Mordaunt Liam C McIntyre Hayley Salvemini Afdal Ibrahim Drago Bratkovic David Ketteridge Hamish S Scott Karin S Kassahn Nicholas Smith

Am J Med Genet A 2015 Nov 20;167A(11):2697-701. Epub 2015 Aug 20.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.

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November 2015