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Helen Mountain

Observed names: H Mountain, H. Mountain
ORCID: 0000-0003-2295-0210
Observed ORCID: 0000-0003-2295-0210
OpenAlex ID: A5065100704
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation
1999 · S. L. White, S. Shanske, et al. · Journal of Inherited Metabolic Disease · 112
Changing profile of couples seeking genetic counseling for consanguinity in Australia
2004 · Katrina E. Port, Helen Mountain, et al. · American Journal of Medical Genetics Part A · 23
Trimethylaminuria (fish malodour syndrome): a “benign” genetic condition with major psychosocial sequelae
2008 · Helen Mountain, Joanna M Brisbane, et al. · The Medical Journal of Australia · 22
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 20
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Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand
2024 · Anaita Kanga-Parabia, Anaita Kanga-Parabia, et al. · Genetics in Medicine Open · 17
A Retrospective Exploration of the Impact of the ‘Angelina Jolie Effect’ on the Single State‐Wide Familial Cancer Program in Perth, Western Australia
2016 · Rebecca Freedman, Helen Mountain, et al. · Journal of Genetic Counseling · 12
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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
2024 · Rachel Austin, Jaye S. Brown, et al. · Genetics in Medicine Open · 9
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals
2022 · Bhavya Bhupen Vora, Helen Mountain, et al. · Journal of Community Genetics · 8
Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective
2019 · R. Johnson, S. Peters, et al. · Heart Lung and Circulation · 5
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A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program
2024 · Holly Canton, Rebecca Macintosh, et al. · Genetics in Medicine Open · 4
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy
2025 · Edwin Kirk, Linda Mundy, et al. · Pathology · 3
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Preparing the workforce for genomic medicine: International challenges and strategies
2022 · Desalyn L. Johnson, Bruce R. Korf, et al. · Elsevier eBooks · 3
Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients.
1997 · A Ryan, J McGill, et al. · PubMed · 3
Well‐being and self‐care strategies for cardiovascular genetic counselors: A qualitative study
2025 · Laura Yeates, Lucas A. Mitchell, et al. · Journal of Genetic Counseling
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Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2024 · Renee Johnson, Robert A Fletcher, et al. · Apollo (University of Cambridge)
PDF
Yield and Predictors of Genetic Testing for Hypertrophic and Dilated Cardiomyopathy in the Western Australian Cohort
2024 · C. Walters, C. Greer, et al. · Heart Lung and Circulation
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Development and Outcomes of a Multidisciplinary Inherited Cardiac Clinic in Western Australia
2024 · C. Greer, E. Stackpoole, et al. · Heart Lung and Circulation
Contributors
2022 · Michelle E. Abadingo, Marta Ascurra, et al. · Elsevier eBooks
Everyone is unique: Dealing with diversity in genetic counselling
2015 · Helen Mountain · Murdoch University Research Portal
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When Work, Family And Friendship Collide
2011 · Mandi MacShane, Helen Mountain · Journal of Genetic Counseling
A clinic-based profile of couples seeking genetic counselling for consanguineous marriage
1999 · K. Port, Helen Mountain, et al. · Murdoch University Research Portal
A Western Australian study of couples seeking genetic counselling for consanguineous marriage
1999 · Helen Mountain, K. Port, et al. · Murdoch University Research Portal
Works count: 23
Citation count: 261
H-index: 8
I10-index: 7
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