Melissa Martyn

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

Amy Nisselle, Monika Janinski, Melissa Martyn, Belinda McClaren, Nadia Kaunein, Kristine Barlow-Stewart, Andrea Belcher, John A Bernat, Stephanie Best, Michelle Bishop, June C Carroll, Martina Cornel, Vajira HW Dissanayake, Agnes Dodds, Kate Dunlop, Gunjan Garg, Russell Gear, Debra Graves, Ken Knight, Bruce Korf, et al.

Journal article  |  2021  |  GENETICS IN MEDICINE

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A la..

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  |  2021  |  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  |  2021  |  PATIENT EDUCATION AND COUNSELING

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

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz, et al.

Journal article  |  2021  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for ..

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

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

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  |  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

Evaluating the resource implications of different service delivery models for offering additional genomic findings

Martin Vu, Koen Degeling, Melissa Martyn, Elly Lynch, Belinda Chong, Clara Gaff, Maarten J IJzerman

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: To evaluate the resource implications of different delivery models for the provision of additional findings (AF) in genom..

Mapping the Minnesota Living with Heart Failure Questionnaire (MLHFQ) onto the Assessment of Quality of Life 8D (AQoL-8D) utility scores

Max Catchpool, Jay Ramchand, David L Hare, Melissa Martyn, Ilias Goranitis

Journal article  |  2020  |  QUALITY OF LIFE RESEARCH

Purpose The Minnesota Living with Heart Failure Questionnaire (MLHFQ) is a widely used condition-specific measure of quality of li..

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..