Detalhe da pesquisa
1.
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data.
Nat Rev Genet
; 21(6): 377-384, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251390
2.
Birth prevalence of congenital heart defects in Western Australia, 1990-2016.
J Paediatr Child Health
; 57(10): 1672-1680, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051121
3.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
J Paediatr Child Health
; 57(4): 477-483, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566436
4.
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Genet Med
; 19(5): 546-552, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27657686
5.
Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015.
Med J Aust
; 206(8): 351-356, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446117
6.
Protecting the rare during a rare pandemic.
Med J Aust
; 213(2): 94-94.e1, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32570278
7.
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.
J Paediatr Child Health
; 51(5): 555-560, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25418154
8.
Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.
Twin Res Hum Genet
; 16(4): 840-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23870680
9.
The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population-based cohort study.
Birth Defects Res
; 114(19): 1244-1256, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678518
10.
Translating Aboriginal genomics - four letters Closing the Gap.
Med J Aust
; 205(8): 379, 2016 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27736627
11.
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
Sci Rep
; 11(1): 12175, 2021 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34108542
12.
A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.
Twin Res Hum Genet
; 13(4): 297-300, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20707699
13.
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
NPJ Genom Med
; 5(1): 54, 2020 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303739
14.
The need for genetic studies of Indigenous Australians.
Med J Aust
; 196(5): 313, 2012 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22432664
15.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
; 40(6): 817-820, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705716
16.
A call for global action for rare diseases in Africa.
Nat Genet
; 52(1): 21-26, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31873296
17.
Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome.
J Clin Endocrinol Metab
; 98(12): E1979-87, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037887