Pesquisa | BVS Educação Profissional em Saúde

1.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L; Goranitis, Ilias; Spurdle, Amanda B; Hansen, David P; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J; Scott, Hamish S; Thorne, Natalie; Ward, Robyn L; Dinger, Marcel E; Best, Stephanie; Long, Janet C; Grimmond, Sean M; Pearson, John; Waddell, Nicola; Barnett, Christopher P; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J; Lockhart, Paul J; Lunke, Sebastian; Mallett, Andrew J; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E; Semsarian, Christopher; Simons, Cas; Thomas, David M; Thorburn, David R; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael Cj; Mattiske, Tessa.

Am J Hum Genet ; 110(3): 419-426, 2023 03 02.

Artigo em Inglês | MEDLINE | ID: mdl-36868206

2.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

Nisselle, Amy; Janinski, Monika; Martyn, Melissa; McClaren, Belinda; Kaunein, Nadia; Barlow-Stewart, Kristine; Belcher, Andrea; Bernat, John A; Best, Stephanie; Bishop, Michelle; Carroll, June C; Cornel, Martina; Dissanayake, Vajira H W; Dodds, Agnes; Dunlop, Kate; Garg, Gunjan; Gear, Russell; Graves, Debra; Knight, Ken; Korf, Bruce; Kumar, Dhavendra; Laurino, Mercy; Ma, Alan; Maguire, Jane; Mallett, Andrew; McCarthy, Maria; McEwen, Alison; Mulder, Nicola; Patel, Chirag; Quinlan, Catherine; Reed, Kate; Riggs, Erin Rooney; Sinnerbrink, Ingrid; Slavotinek, Anne; Suppiah, Vijayaprakash; Terrill, Bronwyn; Tobias, Edward S; Tonkin, Emma; Trumble, Steve; Wessels, Tina-Marie; Metcalfe, Sylvia; Jordan, Helen; Gaff, Clara.

Genet Med ; 23(7): 1356-1365, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-33824503

3.

The expectations and realities of nutrigenomic testing in australia: A qualitative study.

Tutty, Erin; Hickerton, Chriselle; Terrill, Bronwyn; McClaren, Belinda; Tytherleigh, Rigan; Stackpoole, Elaine; Savard, Jaqueline; Newson, Ainsley; Middleton, Anna; Nisselle, Amy; Cusack, Marie; Adamski, Melissa; Gaff, Clara; Metcalfe, Sylvia.

Health Expect ; 24(2): 670-686, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-33635607

4.

Human Genetics Society of Australasia Position Statement: Online DNA Testing.

Savard, Jacqueline; Terrill, Bronwyn; Dunlop, Kate; Samanek, Amanda; Metcalfe, Sylvia A.

Twin Res Hum Genet ; 23(4): 256-258, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32838824

5.

Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.

Nisselle, Amy; Macciocca, Ivan; McKenzie, Fiona; Vuong, Hannah; Dunlop, Kate; McClaren, Belinda; Metcalfe, Sylvia; Gaff, Clara.

J Genet Couns ; 28(2): 367-377, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30779404

6.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Kraan, Claudine M; Bui, Quang M; Field, Mike; Archibald, Alison D; Metcalfe, Sylvia A; Christie, Louise M; Bennetts, Bruce H; Oertel, Ralph; Smith, Melanie J; du Sart, Desiree; Bruno, Damien; Wotton, Tiffany L; Amor, David J; Francis, David; Godler, David E.

Genet Med ; 20(12): 1627-1634, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-29595813

7.

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.

Metcalfe, Sylvia A; Martyn, Melissa; Ames, Alice; Anderson, Vicki; Archibald, Alison D; Couns, Grad Dip Gen; Carter, Rob; Cohen, Jonathan; Cotter, Megan; GenCouns, M; Dang, William; Delatycki, Martin B; Donath, Susan; Edwards, Samantha; Educ, PGrad Dip; Couns, Grad Dip Gen; Forbes, Robin; Couns, Grad Dip Gen; Gavrila, Mioara; MedSci, M; Halliday, Jane; Hickerton, Chriselle; Hill, Melissa; Couns, Grad Dip Gen; Jacobs, Lorilli; Ultrasound, PGrad Dip; Petrou, Vicki; Couns, Grad Dip Gen; Plunkett, Loren; GenCouns, M; Sheffield, Leslie; Racp, F; Thornton, Alison; Couns, Grad Dip Gen; Younie, Sandra; Econ, PGrad Dip Hlth; Emery, Jon D.

Genet Med ; 19(12): 1346-1355, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-28661491

8.

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Cotter, Megan; Archibald, Alison D; McClaren, Belinda J; Burgess, Trent; Francis, David; Hills, Louise; Martyn, Melissa; Oertel, Ralph; Slater, Howard; Cohen, Jonathan; Metcalfe, Sylvia A.

Am J Med Genet A ; 170(6): 1439-49, 2016 06.

Artigo em Inglês | MEDLINE | ID: mdl-26892444

9.

Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda.

Aust N Z J Obstet Gynaecol ; 56(6): 605-613, 2016 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-27402530

10.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Godler, David E; Inaba, Yoshimi; Schwartz, Charles E; Bui, Quang M; Shi, Elva Z; Li, Xin; Herlihy, Amy S; Skinner, Cindy; Hagerman, Randi J; Francis, David; Amor, David J; Metcalfe, Sylvia A; Hopper, John L; Slater, Howard R.

Expert Rev Mol Med ; 17: e13, 2015 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-26132880

11.

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.

Ames, Alice G; Jaques, Alice; Ukoumunne, Obioha C; Archibald, Alison D; Duncan, Rony E; Emery, Jon; Metcalfe, Sylvia A.

Health Expect ; 18(1): 69-80, 2015 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23067225

12.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.

Ioannou, Liane; McClaren, Belinda J; Massie, John; Lewis, Sharon; Metcalfe, Sylvia A; Forrest, Laura; Delatycki, Martin B.

Genet Med ; 16(3): 207-16, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24030436

13.

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

Hodgson, Jan M; Metcalfe, Sylvia A; Aitken, Maryanne; Donath, Susan M; Gaff, Clara L; Winship, Ingrid M; Delatycki, Martin B; Skene, Loane L C; McClaren, Belinda J; Paul, Jean L; Halliday, Jane L.

BMC Med Genet ; 15: 33, 2014 Mar 14.

Artigo em Inglês | MEDLINE | ID: mdl-24628824

14.

Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements.

Shelton, Annie L; Cornish, Kim; Kraan, Claudine; Georgiou-Karistianis, Nellie; Metcalfe, Sylvia A; Bradshaw, John L; Hocking, Darren R; Archibald, Alison D; Cohen, Jonathan; Trollor, Julian N; Fielding, Joanne.

Brain Cogn ; 85: 201-8, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24424424

15.

Prenatal ß-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.

Cousens, Nicole E; Gaff, Clara L; Delatycki, Martin B; Metcalfe, Sylvia A.

Prenat Diagn ; 34(3): 246-50, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24338659

16.

Genetics in general practice.

Blashki, Grant; Metcalfe, Sylvia; Emery, Jon.

Aust Fam Physician ; 43(7): 428-31, 2014 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-25006600

17.

Klinefelter syndrome - a general practice perspective.

Bourke, Elyssia; Herlihy, Amy; Snow, Pamela; Metcalfe, Sylvia; Amor, David.

Aust Fam Physician ; 43(1): 38-41, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24563893

18.

Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.

Kraan, Claudine M; Hocking, Darren R; Georgiou-Karistianis, Nellie; Metcalfe, Sylvia A; Archibald, Alison D; Fielding, Joanne; Trollor, Julian; Bradshaw, John L; Cohen, Jonathan; Cornish, Kim M.

Am J Med Genet B Neuropsychiatr Genet ; 165B(1): 41-51, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24166828

19.

Fragile X population carrier screening.

Metcalfe, Sylvia A; Delatycki, Martin B; Cohen, Jonathan; Archibald, Alison D; Emery, Jon D.

Genet Med ; 20(9): 1091-1092, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29215647

20.

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.

McClaren, Belinda J; Aitken, Maryanne; Massie, John; Amor, David; Ukoumunne, Obioha C; Metcalfe, Sylvia A.

Genet Med ; 15(7): 533-40, 2013 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-23348769

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