Carrier screening in preconception consultation in primary care

Por Metcalfe, Sylvia A.
Publicado em 2011

Carrier screening for Beta-thalassaemia: a review of international practice

Por Cousens, Nicole E, Gaff, Clara L, Metcalfe, Sylvia A, Delatycki, Martin B
Publicado em 2010

Development of a questionnaire for evaluating genetics education in general practice

Por Flouris, Anna, Hawthorne, Graeme, Aitken, MaryAnne, Gaff, Clara, Metcalfe, Sylvia A.
Publicado em 2010

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

Por Brett, Gemma R, Metcalfe, Sylvia A, Amor, David J, Halliday, Jane L
Publicado em 2012

“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes

Por Cousens, Nicole E., Gaff, Clara L., Metcalfe, Sylvia A., Delatycki, Martin B.
Publicado em 2013

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

Por Turbitt, Erin, Wiest, Michelle M, Halliday, Jane L, Amor, David J, Metcalfe, Sylvia A
Publicado em 2014

A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy

Por Lawton, Sally, Hickerton, Chriselle, Archibald, Alison D, McClaren, Belinda J, Metcalfe, Sylvia A
Publicado no Eur J Hum Genet (2015)

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

Por Archibald, Alison D., Hickerton, Chriselle L., Wake, Samantha A., Jaques, Alice M., Cohen, Jonathan, Metcalfe, Sylvia A.
Publicado no J Community Genet (2016)

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Por McClaren, Belinda J, Metcalfe, Sylvia A, Aitken, MaryAnne, Massie, R John, Ukoumunne, Obioha C, Amor, David J
Publicado em 2010

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

Por Ames, Alice G., Jaques, Alice, Ukoumunne, Obioha C., Archibald, Alison D., Duncan, Rony E., Emery, Jon, Metcalfe, Sylvia A.
Publicado no Health Expect (2012)

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Por Wong, Siaw H, McClaren, Belinda J, Archibald, Alison Dalton, Weeks, Alice, Langmaid, Tess, Ryan, Monique M, Kornberg, Andrew, Metcalfe, Sylvia A
Publicado no Eur J Hum Genet (2015)

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

Por Hodgson, Jan M, Metcalfe, Sylvia A, Aitken, MaryAnne, Donath, Susan M, Gaff, Clara L, Winship, Ingrid M, Delatycki, Martin B, Skene, Loane LC, McClaren, Belinda J, Paul, Jean L, Halliday, Jane L
Publicado em 2014

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

Por 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.
Publicado no Expert Rev Mol Med (2015)

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Por Cornish, Kim M., Kraan, Claudine M., Bui, Quang Minh, Bellgrove, Mark A., Metcalfe, Sylvia A., Trollor, Julian N., Hocking, Darren R., Slater, Howard R., Inaba, Yoshimi, Li, Xin, Archibald, Alison D., Turbitt, Erin, Cohen, Jonathan, Godler, David E.
Publicado no Neurology (2015)

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

Por Delatycki, Martin B, Wolthuizen, Michelle, Collins, Veronica, Varley, Elizabeth, Craven, Joanna, Allen, Katrina J, Gurrin, Lyle C, Aitken, Maryanne, Trembath, M Kaye, Bond, Lyndal, Wilson, Gabrielle R, Stephenson, Sarah EM, Macciocca, Ivan, Hickerton, Chriselle, Lockhart, Paul J, Metcalfe, Sylvia A
Publicado em 2012

Responsible implementation of expanded carrier screening

Por Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Publicado no Eur J Hum Genet (2016)