Detalhe da pesquisa
1.
Human Genetics Society of Australasia Position Statement: Online DNA Testing.
Twin Res Hum Genet
; 23(4): 256-258, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32838824
2.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Genet Med
; 20(12): 1627-1634, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595813
3.
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Genet Med
; 19(12): 1346-1355, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661491
4.
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
Am J Med Genet A
; 170(6): 1439-49, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26892444
5.
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
Expert Rev Mol Med
; 17: e13, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132880
6.
Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.
Health Expect
; 18(1): 69-80, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23067225
7.
Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.
Genet Med
; 16(3): 207-16, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030436
8.
Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.
BMC Med Genet
; 15: 33, 2014 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24628824
9.
Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements.
Brain Cogn
; 85: 201-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424424
10.
Prenatal ß-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.
Prenat Diagn
; 34(3): 246-50, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24338659
11.
Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Am J Med Genet B Neuropsychiatr Genet
; 165B(1): 41-51, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166828
12.
Fragile X population carrier screening.
Genet Med
; 20(9): 1091-1092, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215647
13.
Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.
Genet Med
; 15(7): 533-40, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348769
14.
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Genet Med
; 15(4): 290-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23060046
15.
"It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.
Am J Med Genet A
; 161A(1): 48-58, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239566
16.
Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.
Twin Res Hum Genet
; 16(4): 833-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23870679
17.
"Taking its toll": the challenges of working in fetal medicine.
Birth
; 40(1): 52-60, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635425
18.
A systematic review of population screening for fragile X syndrome.
Genet Med
; 12(7): 396-410, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20548240
19.
"Testing times, challenging choices": an Australian study of prenatal genetic counseling.
J Genet Couns
; 19(1): 22-37, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19798554
20.
"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.
J Genet Couns
; 19(6): 640-52, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20658181