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1 . Academic Journal
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
저자
by
Dias, Kerith-Rae
;
Shrestha, Rupendra
;
Schofield, Deborah
;
Evans, Carey-Anne
;
O’Heir, Emily
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
Full Text (ScienceDirect)
Web of Science
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7 . Academic Journal
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
저자
by
Ades, Lesley
;
Enriquez, Annabel
;
McLean, Alison
;
Smyth, Renee
;
Alankarage, Dimithu
, et al.
소스
In
Genetics in Medicine Open
March 2024
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7 . Academic Journal
The Data Use Ontology to streamline responsible access to human biomedical datasets
저자
by
Lawson, Jonathan
;
Cabili, Moran N.
;
Kerry, Giselle
;
Boughtwood, Tiffany
;
Thorogood, Adrian
, et al.
소스
In
Cell Genomics
10 November 2021 1(2)
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7 . Periodical
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
저자
by
Tiller, Jane
;
Bakshi, Andrew
;
Dowling, Grace
;
Keogh, Louise
;
McInerney-Leo, Aideen
, et al.
소스
European Journal of Human Genetics: EJHG; March 2024, Vol. 32 Issue: 3 p286-294, 9p
Web of Science
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7 . Academic Journal
Genomics and inclusion of Indigenous peoples in high income countries.
저자
by
Gwynne, Kylie
;
Jiang, Shirley
;
Venema, Robertson
;
Christie, Vita
;
Boughtwood, Tiffany
, et al.
소스
Human Genetics
. Sep2023, Vol. 142 Issue 9, p1407-1416. 10p.
Web of Science
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7 . Academic Journal
Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
저자
by
Tiller, Jane M.
;
Stott, Ami
;
Finlay, Keri
;
Boughtwood, Tiffany
;
Madelli, Evanthia O.
, et al.
소스
European Journal of Human Genetics
. 32(1):98-108
Web of Science
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7 . Academic Journal
Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort
저자
by
Haas, Matilda A.
;
Madelli, Evanthia O.
;
Brown, Rosie
;
Prictor, Megan
;
Boughtwood, Tiffany
.
소스
European Journal of Human Genetics
. 32(1):61-68
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7 . Academic Journal
Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.
저자
by
Tiller, Jane
;
Nowak, Kristen
;
Boughtwood, Tiffany
;
Otlowski, Margaret
.
소스
BioTech
. Jun2023, Vol. 12 Issue 2, p45. 13p.
Scopus
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6 . Academic Journal
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
저자
by
Stark, Zornitza
;
Boughtwood, Tiffany
;
Haas, Matilda
;
Braithwaite, Jeffrey
;
Gaff, Clara L.
, et al.
소스
American Journal of Human Genetics
. Mar2023, Vol. 110 Issue 3, p419-426. 8p.
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7 . Academic Journal
Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study
저자
by
Dowling, Grace
;
Tiller, Jane
;
McInerney-Leo, Aideen
;
Belcher, Andrea
;
Haining, Casey
, et al.
소스
European Journal of Human Genetics
. 30(11):1262-1268
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