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1 . Academic Journal
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
저자
by
Roberts, Angharad M.
;
DiStefano, Marina T.
;
Riggs, Erin Rooney
;
Josephs, Katherine S.
;
Alkuraya, Fowzan S.
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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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
2024 2
Full Text (ScienceDirect)
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7 . Academic Journal
GA4GH: International policies and standards for data sharing across genomic research and healthcare
저자
by
Rehm, Heidi L.
;
Page, Angela J.H.
;
Smith, Lindsay
;
Adams, Jeremy B.
;
Alterovitz, Gil
, et al.
소스
In
Cell Genomics
10 November 2021 1(2)
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7 . Academic Journal
“It’s something I’ve committed to longer term”: The impact of an immersion program for physicians on adoption of genomic medicine
저자
by
Martyn, Melissa
;
McClaren, Belinda
;
Janinski, Monika
;
Lynch, Elly
;
Cunningham, Fiona
, et al.
소스
In
Patient Education and Counseling
March 2021 104(3):480-488
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7 . Academic Journal
The role of placental growth factor (PlGF) and its receptor system in retinal vascular diseases
저자
by
Van Bergen, Tine
;
Etienne, Isabelle
;
Cunningham, Fiona
;
Moons, Lieve
;
Schlingemann, Reinier O.
, et al.
소스
In
Progress in Retinal and Eye Research
March 2019 69:116-136
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7 . Academic Journal
Mainstreaming genomic testing: pre‐test counselling and informed consent.
저자
by
Cormack, Michaela
;
Irving, Kathryn B
;
Cunningham, Fiona
;
Fennell, Andrew P
.
소스
Medical Journal of Australia; May2024, Vol. 220 Issue 8, p403-406, 4p
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6 . Academic Journal
P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
저자
by
Pujar, Shashikant
;
Loveland, Jane
;
Astashyn, Alex
;
Bennett, Ruth
;
Berry, Andrew
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
저자
by
DiStefano, Marina
;
Amberger, Joanna
;
Austin-Tse, Christina
;
Balzotti, Marie
;
Amin, Mutaz
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Respiratory physicians and clinic coordinators' attitudes to population-based cystic fibrosis carrier screening
저자
by
Cunningham, Fiona
;
Lewis, Sharon
;
Curnow, Lisette
;
Glazner, Judith
;
Massie, John
.
소스
In
Journal of Cystic Fibrosis
January 2014 13(1):99-105
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7 . Dissertation/ Thesis
Regulating the bioactivity of placental growth factor in the aging outer retina as a new therapeutic approach to age-related macular degeneration
저자
by
Cunningham, Fiona
;
Stitt, Alan
;
Lengyel, Imre
.
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