Detalhe da pesquisa
1.
Australian public perspectives on genomic newborn screening: which conditions should be included?
Hum Genomics
; 18(1): 45, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38720401
2.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275146
3.
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening.
Prenat Diagn
; 43(2): 213-225, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617980
4.
How should severity be understood in the context of reproductive genetic carrier screening?
Bioethics
; 37(4): 359-366, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36744627
5.
Experiences of receiving an increased chance of sex chromosome aneuploidy result from non-invasive prenatal testing in Australia: "A more complicated scenario than what I had ever realized".
J Genet Couns
; 32(1): 213-223, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114608
6.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
7.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Am J Med Genet A
; 188(1): 304-309, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545686
8.
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Aust N Z J Obstet Gynaecol
; 61(2): 232-238, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135161
9.
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
10.
Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.
Genet Med
; 24(5): 1158-1161, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35168887
11.
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
12.
"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result.
Am J Med Genet A
; 170(11): 2895-2904, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27411073
13.
"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia.
Am J Med Genet A
; 170(8): 2052-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27150953
14.
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
15.
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
16.
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
17.
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
18.
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.
Int J Neonatal Screen
; 10(1)2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248635
19.
Fragile X population carrier screening.
Genet Med
; 20(9): 1091-1092, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215647
20.
"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