Melissa Martyn

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 l..

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L Rehm, David J Amor

Journal article  |  2020  |  European Journal of Human Genetics

Congenital hearing impairment (HI) is the most common sensory impairment and can be isolated or part of a syndrome. Diagnosis thro..

Utility of clinical comprehensive genomic characterisation for diagnostic categorisation in patients presenting with hypocellular bone marrow failure syndromes.

Piers Blombery, Lucy 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  |  2020  |  Haematologica

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

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J Amor

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce thi..

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L Hare, Paul James

Journal article  |  2020  |  Journal of the American Heart Association

Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencin..

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

Max Catchpool, Jay Ramchand, Melissa Martyn, David L Hare, Paul A James, Alison H Trainer, Josh Knight, Illias Goranitis

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated c..

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul-Fernandez, Justine E Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J Brown, Chloe Stutterd, Martin B Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara L Gaff, Susan M White

Journal article  |  2019  |  European Journal of Human Genetics

Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including..

Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach

Amy Nisselle, Melissa Martyn, Helen Jordan, Nadia Kaunein, Alison McEwen, Chirag Patel, Bronwyn Terrill, Michelle Bishop, Sylvia Metcalfe, Clara Gaff

Journal article  |  2019  |  Frontiers in Genetics

Targeted genomic education and training of professionals have been identified as core components of strategies and implementation ..

iPREDICT: Incorporating complex profiling of patients to enrol onto molecularly directed cancer therapeutics. Preliminary results of the adult and paediatric

Kortnye Smith, Sophie O'Haire, Khuong-Quang Dong-Anh, Ben Markman, Hui Gan, Paul G Ekert, Ken O'Byrne, Michael Milward, Ben Solomon, Ben Tran, Clare Scott, Grant McArthur, Damien Kee, Andrew Fellowes, Huiling Xu, Melissa Martyn, Elly Lynch, Paula Lorgelly, Clara Gaff, Stephen Fox, et al.

Conference Proceedings  |  2019  |  ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Natalie B Tan, Tiong Yang Tan, Melissa M Martyn, Ravi Savarirayan, David J Amor, Amanda Moody, Susan M White, Zornitza Stark

Journal article  |  2019  |  Journal of Paediatrics and Child Health

AIM: To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal int..

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Zornitza Stark, Amy Nisselle, Belinda McClaren, Fiona Lynch, Stephanie Best, Janet C Long, Melissa Martyn, Chirag Patel, Luregn J Schlapbach, Christopher Barnett, Christiane Theda, Jason Pinner, Marcel E Dinger, Sebastian Lunke, Clara L Gaff

Journal article  |  2019  |  European Journal of Human Genetics

We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal an..

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett

Journal article  |  2019  |  BMJ Open

INTRODUCTION: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new..

Amalgamating theoretical frameworks to understand individual and organisational level implementation

Stephanie Best, Janet C Long, Melissa Martyn, Clara Gaff, Jeffrey Braithwaite, Natalie Taylor

Conference Proceedings  |  2019  |  IMPLEMENTATION SCIENCE

Patient perspectives after genomic sequencing testing in clinical care

M Martyn, A Kanga-Parabia, L Keogh, A Trainer, CL Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Decision-making for additional genomic findings in parents of newborns with congenital deafness

L Downie, M Martyn, A Jarmolowicz, V Sung, A Kanga-Parabia, J Halliday, E Lynch, Z Poulakis, Y Prawer, C Gaff, D Amor

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The patient voice in design of systems to share clinical genomic sequencing data

M Martyn, P Gleeson, C Walker, H Chia, A Kanga-Parabia, CL Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

"Experience is the teacher of all things"- upskilling the genomics workforce in variant interpretation

F Cunningham, S Lunke, TY Tan, M Martyn, E Lynch, SNA Roesley, N Thorne, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

Natalie Taylor, Stephanie Best, Melissa Martyn, Janet C Long, Kathryn N North, Jeffrey Braithwaite, Clara Gaff

Journal article  |  2019  |  BMJ Open

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system

Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, et al.

Journal article  |  2019  |  Journal of Genetic Counseling

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White

Journal article  |  2019  |  Genetics in Medicine

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, et al.

Journal article  |  2018  |  Genetics in Medicine

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Rob Carter, Jonathan Cohen, Megan Cotter, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, Robin Forbes, Mioara Gavrila, Jane Halliday, Chriselle Hickerton, Melissa Hill, Lorilli Jacobs, Vicki Petrou, Loren Plunkett, et al.

Journal article  |  2017  |  Genetics in Medicine

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Lilian Downie, Jane L Halliday, Rachel A Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew Hunter, Kerryn Saunders, Elizabeth Rose, Heidi L Rehm, David J Amor

Journal article  |  2017  |  BMJ Paediatrics Open

Introduction: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents..

Interacting with Genomic Data: Clinician Requirements and Prototype Structure

Dana Bradford, Shlomo Berkovsky, Melissa Martyn, Tim Bakkar, Martin Krahnert, Michelle Rodriguez, Denis Bauer, Derek Ireland, Clara Gaff

Book Chapter  |  2017  |  Studies in Health Technology and Informatics

Healthcare is currently being transformed by the introduction of genomic sequencing - a major advancement in personalised medicine..

Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions

Megan Cotter, Alison D Archibald, Belinda J McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2016  |  American Journal of Medical Genetics Part A

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population

M Martyn, V Anderson, A Archibald, R Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, S Younie, S Metcalfe

Journal article  |  2013  |  BMJ Open

Developing a curriculum statement based on clinical practice: genetics in primary care

Sarah Burke, Melissa Martyn, Anna Stone, Catherine Bennett, Hywel Thomas, Peter Farndon

Journal article  |  2009  |  British Journal of General Practice

The development of core learning outcomes relevant to clinical practice: identifying priority areas for genetics education for non-genetics specialist registrars

Sarah Burke, Melissa Martyn, Hywel Thomas, Peter Farndon

Journal article  |  2009  |  Clinical Medicine

Advances in medical genetics are increasingly impacting on clinical practice outside specialist genetic services. It is widely ack..