Publications by authors named "Anna Jarmolowicz"

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Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes.
Lucy C Fox, Erin Goode, Nicole Den Elzen, Lin Cheng, Laura Barth, Anna Jarmolowicz

Intern Med J· August 2025

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Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.
Christy Atkinson, Yong Quan Lee, Mariana L Lauretta, Anna Jarmolowicz, David J Amor

Eur J Hum Genet· July 2025

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An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech.
Mariana L Lauretta, Anna Jarmolowicz, David J Amor, Stephanie Best, Angela T Morgan

J Speech Lang Hear Res· September 2024

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Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Piers Blombery, Georgina L Ryland, Lucy C Fox, Zornitza Stark, Meg Wall, Anna Jarmolowicz

Br J Haematol· July 2022

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Personal utility of genomic sequencing for infants with congenital deafness.
Erin Tutty, David J Amor, Anna Jarmolowicz, Kate Paton, Lilian Downie

Am J Med Genet A· December 2021

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Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Anna I Jarmolowicz, Emma K Baker, Essra Bartlett, David Francis, Ling Ling

Am J Med Genet A· May 2021

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Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Anna Jarmolowicz

Eur J Hum Genet· February 2021

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, Anna Jarmolowicz

Genet Med· January 2021

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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, Anna Jarmolowicz

J Neurol Sci· January 2021

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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, Anna Jarmolowicz

Genet Med· December 2020

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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Anna Jarmolowicz

Eur J Hum Genet· May 2020

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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, Anna Jarmolowicz

Genet Med· May 2020

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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, Anna Jarmolowicz

J Genet Couns· April 2019

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Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Anna Jarmolowicz

Genet Med· December 2018

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Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Gemma R Brett, Ella J Wilkins, Emma T Creed, Kirsty West, Anna Jarmolowicz

J Genet Couns· September 2018

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Anna Jarmolowicz

JAMA Pediatr· September 2017

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The patterns of inheritance in early-onset dementia: Alzheimer's disease and frontotemporal dementia.
Anna I Jarmolowicz, Huei-Yang Chen, Peter K Panegyres

Am J Alzheimers Dis Other Demen· May 2015

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Comparison of two methods for the analysis of CSF Aβ and tau in the diagnosis of Alzheimer's disease.
Matthew Faull, Simon Yl Ching, Anna I Jarmolowicz, John Beilby, Peter K Panegyres

Am J Neurodegener Dis· January 2015

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The needs of patients with early onset dementia.
Elizabeth Armari, Anna Jarmolowicz, Peter K Panegyres

Am J Alzheimers Dis Other Demen· February 2013

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