Detalles de la búsqueda
1.
Australian public perspectives on genomic newborn screening: which conditions should be included?
Hum Genomics
; 18(1): 45, 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38720401
2.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 May.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36744627
5.
"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners.
J Genet Couns
; 32(5): 1057-1068, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37186486
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36114608
7.
Ethical considerations in gene selection for reproductive carrier screening.
Hum Genet
; 141(5): 1003-1012, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34426854
8.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906502
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34545686
10.
Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.
Prenat Diagn
; 41(6): 708-719, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33533079
11.
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Aust N Z J Obstet Gynaecol
; 61(2): 232-238, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33135161
12.
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.
Genet Med
; 22(12): 1944-1955, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32807973
13.
International perspectives on the implementation of reproductive carrier screening.
Prenat Diagn
; 40(3): 301-310, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31774570
14.
Outcomes of children diagnosed antenatally with sex chromosome aneuploidies.
J Paediatr Child Health
; 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38769937
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29595813
16.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(5): 513-523, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29261177
17.
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genet Med
; 20(11): 1485, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29388943
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35168887
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28661491
20.
"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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27411073