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9 results for Jarmolowicz,+Anna

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ArticlesPeer ReviewedFull Text
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Author / Creator:Jayasinghe, Kushani ; Stark, Zornitza ; Kerr, Peter G. ; Gaff, Clara ; Martyn, Melissa ; Whitlam, John ; Creighton, Belinda ; Donaldson, Elizabeth ; Hunter, Matthew ; Jarmolowicz, Anna ; Johnstone, Lilian ; Krzesinski, Emma ; Lunke, Sebastian ; Lynch, Elly ; Nicholls, Kathleen ; Patel, Chirag ; Prawer, Yael ; Ryan, Jessica ; See, Emily J. ; Talbot, Andrew ; Trainer, Alison ; Tytherleigh, Rigan ; Valente, Giulia ; Wallis, Mathew ; Wardrop, Louise ; West, Kirsty H. ; White, Susan M. ; Wilkins, Ella ; Mallett, Andrew J. ; Quinlan, Catherine
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.183-191
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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
Author / Creator:Downie, Lilian ; Halliday, Jane ; Burt, Rachel ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Poulakis Zeffie ; Gaff Clara ; Sung, Valerie ; Wake, Melissa ; Hunter, Matthew F ; Saunders, Kerryn ; Rose, Elizabeth ; Lewis, Sharon ; Jarmolowicz Anna ; Phelan, Dean ; Rehm, Heidi L ; Amor, David J
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.587-596
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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
Author / Creator:Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y. ; Stark, Zornitza ; Brown, Natasha ; Hunter, Matthew F. ; Delatycki, Martin ; Stutterd, Chloe ; Savarirayan, Ravi ; Mcgillivray, George ; Stapleton, Rachel ; Kumble, Smitha ; Downie, Lilian ; Regan, Matthew ; Lunke, Sebastian ; Chong, Belinda ; Phelan, Dean ; Brett, Gemma R. ; Jarmolowicz, Anna ; Prawer, Yael ; Valente, Giulia ; Smagarinsky, Yana ; Martyn, Melissa ; McEwan, Callum ; Goranitis, Ilias ; Gaff, Clara ; White, Susan M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.1986-1993
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Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
Author / Creator:Downie, Lilian ; Halliday, Jane ; Burt, Rachel ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Poulakis Zeffie ; Gaff Clara ; Sung, Valerie ; Wake, Melissa ; Hunter, Matthew F ; Saunders, Kerryn ; Rose, Elizabeth ; Lewis, Sharon ; Jarmolowicz Anna ; Phelan, Dean ; Rehm, Heidi L ; Amor, David J
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.363-363
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Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Author / Creator:Stark, Zornitza ; Lunke, Sebastian ; Brett, Gemma R. ; Tan, Natalie B. ; Stapleton, Rachel ; Kumble, Smitha ; Yeung, Alison ; Phelan, Dean G. ; Chong, Belinda ; Fanjul-Fernandez, Miriam ; Marum, Justine E. ; Hunter, Matthew ; Jarmolowicz, Anna ; Prawer, Yael ; Riseley, Jessica R. ; Regan, Matthew ; Elliott, Justine ; Martyn, Melissa ; Best, Stephanie ; Tan, Tiong Y. ; Gaff, Clara L. ; White, Susan M.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-12, Vol.20 (12), p.1554-1563
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Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
Author / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Lunke, Sebastian ; Lynch, Elly ; Martyn, Melissa ; Gaff, Clara ; Jarmolowicz, Anna ; Amor, David J.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.937-944
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Exome sequencing in newborns with congenital deafness as a modelfor genomic newborn screening: the Baby Beyond Hearing project
Author / Creator:Downie, Lilian ; Halliday, Jane ; Lewis, Sharon ; Lunke Sebastian ; Lynch, Elly ; Martyn, Melissa ; Gaff Clara ; Jarmolowicz Anna ; Amor, David J
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.937-944
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Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
Author / Creator:Brett, Gemma R ; Wilkins, Ella J ; Creed, Emma T ; West, Kirsty ; Jarmolowicz, Anna ; Valente, Giulia M ; Prawer, Yael ; Lynch, Elly ; Macciocca, Ivan
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2018-10, Vol.27 (5), p.1010-1021
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STATINS AND MEMORY LOSS: THE AUSTRALIAN PERSPECTIVE
Author / Creator:Jarmolowicz, Anna ; Yang Chen, Huei ; K Panegyres, Peter
Journal title:Australasian medical journal, 2015, Vol.8 (3)
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Clinical impact of genomic testing in patients with suspected monogenic kidney disease

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

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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

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

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

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

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

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Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

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STATINS AND MEMORY LOSS: THE AUSTRALIAN PERSPECTIVE

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