Melissa Martyn

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes

Piers Blombery, Lucy C Fox, Georgina L Ryland, Ella R Thompson, Jennifer Lickiss, Michelle McBean, Satwica Yerneni, David Hughes, Anthea Greenway, Francoise Mechinaud, Erica M Wood, Graham J Lieschke, Jeff Szer, Pasquale Barbaro, John Roy, Joel Wight, Elly Lynch, Melissa Martyn, Clara Gaff, David Ritchie

Journal article  |  2021  |  Haematologica: the hematology journal

Bone marrow failure (BMF) related to hypoplasia of haematopoietic elements in the bone marrow is a heterogeneous clinical entity w..

Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis

Lilian Downie, David J Amor, Jane Halliday, Sharon Lewis, Melissa Martyn, Ilias Goranitis

Journal article  |  2020  |  The Laryngoscope

OBJECTIVES/HYPOTHESIS: To assess the relative cost-effectiveness of exome sequencing for isolated congenital deafness compared wit..

Additional Genomic Findings: towards a feasible, effective model of care

E Lynch, M Martyn, L Lee, A Kanga-Parabia, R Weerasuriya, R Tytherleigh, CL Gaff

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings.

David Ireland, DanaKai Bradford, Emma Szepe, Ella Lynch, Melissa Martyn, David Hansen, Clara Gaff

Journal article  |  2020  |  Patient Education and Counseling

OBJECTIVE: To support informed decision-making about reanalysis of clinical genomic data for risk of preventable conditions ('addi..

"It's something I've committed to longer term": The impact of an immersion program for physicians on adoption of genomic medicine.

Melissa Martyn, Belinda McClaren, Monika Janinski, Elly Lynch, Fiona Cunningham, Clara Gaff

Journal article  |  2020  |  Patient Education and Counseling

OBJECTIVE: To foster implementation of genomic testing in medical care by providing a cadre of physicians with 'hands on' experien..

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidne..

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, Matthew F Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R Brett, Anna Jarmolowicz, Yael Prawer, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions..

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R Brett, Melissa Martyn, Fiona Lynch, Michelle G de Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah King-Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: ..

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  JAMA

Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathwa..

Evaluating barriers to uptake of comprehensive genomic profiling (CGP) in advanced cancer patients (pts).

Kortnye Maureen Smith, Sophie O Haire, Anh Khuong-Quang Dong, Ben Markman, Hui Kong Gan, Paul G Ekert, Kenneth John O'Byrne, Michael Millward, Benjamin J Solomon, Ben Tran, Clare L Scott, Damien Kee, Grant A McArthur, Andrew Fellowes, Rona Weerasuriya, Elly Lynch, Melissa Martyn, Clara Gaff, Stephen B Fox, Jayesh Desai

Conference Proceedings  |  2020  |  Journal of Clinical Oncology