Works matching AU Archibald, Alison

Results: 35

'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations.

Published in:

Prenatal Diagnosis, 2025, v. 45, n. 2, p. 155, doi. 10.1002/pd.6696

By:

Cifuentes Ochoa, Marta;
Archibald, Alison Dalton;
Flowers, Nicola Jane;
Pertile, Mark Domenic

Publication type:

Article

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.

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 2, p. 213, doi. 10.1002/pd.6307

By:

Scarff, Katrina L.;
Flowers, Nicola;
Love, Clare J.;
Archibald, Alison D.;
Hunt, Clare E.;
Giouzeppos, Olivia;
Elliott, Justine;
Delatycki, Martin B.;
Pertile, Mark D.

Publication type:

Article

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 6, p. 708, doi. 10.1002/pd.5914

By:

Best, Stephanie;
Long, Janet;
Theodorou, Tahlia;
Hatem, Sarah;
Lake, Rebecca;
Archibald, Alison;
Freeman, Lucinda;
Braithwaite, Jeffrey

Publication type:

Article

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

Published in:

Prenatal Diagnosis, 2021, v. 41, n. 6, p. 708, doi. 10.1002/pd.5914

By:

Best, Stephanie;
Long, Janet;
Theodorou, Tahlia;
Hatem, Sarah;
Lake, Rebecca;
Archibald, Alison;
Freeman, Lucinda;
Braithwaite, Jeffrey

Publication type:

Article

International perspectives on the implementation of reproductive carrier screening.

Published in:

2020

By:

Delatycki, Martin B.;
Alkuraya, Fowzan;
Archibald, Alison;
Castellani, Carlo;
Cornel, Martina;
Grody, Wayne W.;
Henneman, Lidewij;
Ioannides, Adonis S.;
Kirk, Edwin;
Laing, Nigel;
Lucassen, Anneke;
Massie, John;
Schuurmans, Juliette;
Thong, Meow‐Keong;
van Langen, Irene;
Zlotogora, Joël;
Thong, Meow-Keong

Publication type:

journal article

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 6, doi. 10.3390/ijns10010006

By:

Lynch, Fiona;
Best, Stephanie;
Gaff, Clara;
Downie, Lilian;
Archibald, Alison D.;
Gyngell, Christopher;
Goranitis, Ilias;
Peters, Riccarda;
Savulescu, Julian;
Lunke, Sebastian;
Stark, Zornitza;
Vears, Danya F.

Publication type:

Article

How should severity be understood in the context of reproductive genetic carrier screening?

Published in:

Bioethics, 2023, v. 37, n. 4, p. 359, doi. 10.1111/bioe.13136

By:

Dive, Lisa;
Archibald, Alison D.;
Freeman, Lucinda;
Newson, Ainsley J.

Publication type:

Article

Population-based genetic carrier screening for cystic fibrosis in Victoria.

Published in:

2014

By:

Archibald, Alison D.;
Massie, John;
Smith, Melanie J.;
Dalton, Deborah G.;
du Sail, Desirée;
Amor, David J.

Publication type:

Letter to the Editor

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

Published in:

Health Expectations, 2015, v. 18, n. 1, p. 69, doi. 10.1111/hex.12009

By:

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

Publication type:

Article

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500

By:

Bartlett, Essra;
Archibald, Alison D.;
Francis, David;
Ling, Ling;
Thomas, Rob;
Chandler, Gabrielle;
Ward, Lisa;
O'Farrell, Gemma;
Pandelache, Alison;
Delatycki, Martin B.;
Bennetts, Bruce H.;
Ho, Gladys;
Fisk, Katrina;
Baker, Emma K.;
Amor, David J.;
Godler, David E.

Publication type:

Article

'It wasn't a disaster or anything': Parents' experiences of their child's uncertain chromosomal microarray result.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2895, doi. 10.1002/ajmg.a.37838

By:

Wilkins, Ella J.;
Archibald, Alison D.;
Sahhar, Margaret A.;
White, Susan M.

Publication type:

Article

'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.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2052, doi. 10.1002/ajmg.a.37697

By:

Beard, Catherine A.;
Amor, David J.;
Di Pietro, Louisa;
Archibald, Alison D.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1439, doi. 10.1002/ajmg.a.37603

By:

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.

Publication type:

Article

'It's about having the choice': Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 48, doi. 10.1002/ajmg.a.35674

By:

Archibald, Alison D.;
Hickerton, Chriselle L.;
Jaques, Alice M.;
Wake, Samantha;
Cohen, Jonathan;
Metcalfe, Sylvia A.

Publication type:

Article

Australian public perspectives on genomic newborn screening: which conditions should be included?

Published in:

Human Genomics, 2024, v. 18, p. 1, doi. 10.1186/s40246-024-00611-x

By:

Lynch, Fiona;
Best, Stephanie;
Gaff, Clara;
Downie, Lilian;
Archibald, Alison D.;
Gyngell, Christopher;
Goranitis, Ilias;
Peters, Riccarda;
Savulescu, Julian;
Lunke, Sebastian;
Stark, Zornitza;
Vears, Danya F.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 1, p. 41, doi. 10.1002/ajmg.b.32203

By:

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.

Publication type:

Article

Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach.

Published in:

Australian Journal of Primary Health, 2023, v. 29, n. 5, p. 480, doi. 10.1071/PY23022

By:

Best, Stephanie;
Long, Janet C.;
Fehlberg, Zoe;
Archibald, Alison D.;
Braithwaite, Jeffrey

Publication type:

Article

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.

Published in:

Australian Journal of Primary Health, 2022, v. 28, n. 6, p. 580, doi. 10.1071/PY21247

By:

Leibowitz, Ruth;
Lewis, Sharon;
Emery, Jon;
Massie, John;
Smith, Melanie;
Delatycki, Martin;
Archibald, Alison

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1294, doi. 10.1038/ejhg.2014.301

By:

Wong, Siaw H;
McClaren, Belinda J;
Archibald, Alison Dalton;
Weeks, Alice;
Langmaid, Tess;
Ryan, Monique M;
Kornberg, Andrew;
Metcalfe, Sylvia A

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 575, doi. 10.1038/ejhg.2014.147

By:

Lawton, Sally;
Hickerton, Chriselle;
Archibald, Alison D;
McClaren, Belinda J;
Metcalfe, Sylvia A

Publication type:

Article

Measuring informed choice in population-based reproductive genetic screening: a systematic review.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 1, p. 8, doi. 10.1038/ejhg.2014.89

By:

Ames, Alice Grace;
Metcalfe, Sylvia Ann;
Archibald, Alison Dalton;
Duncan, Rony Emily;
Emery, Jon

Publication type:

Article

"It becomes your whole life"—Exploring experiences of reciprocal translocation carriers and their partners.

Published in:

Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 1057, doi. 10.1002/jgc4.1716

By:

Cifuentes Ochoa, Marta;
Flowers, Nicola Jane;
Pertile, Mark Domenic;
Archibald, Alison Dalton

Publication type:

Article

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".

Published in:

Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 213, doi. 10.1002/jgc4.1635

By:

Lewit‐Mendes, Miranda F.;
Robson, Hazel;
Kelley, Joanne;
Elliott, Justine;
Brown, Erica;
Menezes, Melody;
Archibald, Alison D.

Publication type:

Article

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 752, doi. 10.1007/s10897-012-9524-8

By:

Finucane, Brenda;
Abrams, Liane;
Cronister, Amy;
Archibald, Alison;
Bennett, Robin;
McConkie-Rosell, Allyn

Publication type:

Article

Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.

Published in:

2012

By:

Finucane, Brenda;
Abrams, Liane;
Cronister, Amy;
Archibald, Alison;
Bennett, Robin;
McConkie-Rosell, Allyn

Publication type:

Correction Notice

Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences.

Published in:

Clinical Teacher, 2025, v. 22, n. 1, p. 1, doi. 10.1111/tct.70013

By:

Fehlberg, Zoe;
Long, Janet C.;
Kanga‐Parabia, Anaita;
Archibald, Alison D.;
Braithwaite, Jeffrey;
Best, Stephanie

Publication type:

Article

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2021, v. 61, n. 2, p. 232, doi. 10.1111/ajo.13264

By:

Valente, Giulia M.;
Amor, David J.;
Ioannou, Liane J.;
Archibald, Alison D.

Publication type:

Article

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1781, doi. 10.3390/jpm12111781

By:

Archibald, Alison D.;
McClaren, Belinda J.;
Caruana, Jade;
Tutty, Erin;
King, Emily A.;
Halliday, Jane L.;
Best, Stephanie;
Kanga-Parabia, Anaita;
Bennetts, Bruce H.;
Cliffe, Corrina C.;
Madelli, Evanthia O.;
Ho, Gladys;
Liebelt, Jan;
Long, Janet C.;
Braithwaite, Jeffrey;
Kennedy, Jillian;
Massie, John;
Emery, Jon D.;
McGaughran, Julie;
Marum, Justine E.

Publication type:

Article

Outcomes of children diagnosed antenatally with sex chromosome aneuploidies.

Published in:

Journal of Paediatrics & Child Health, 2024, v. 60, n. 6, p. 266, doi. 10.1111/jpc.16567

By:

Angley, Eleanor;
Grob, Francisca;
McGillivray, George;
Archibald, Alison;
Fawcett, Susan;
Hui, Lisa;
Welch, John;
Zacharin, Margaret;
White, Mary

Publication type:

Article

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

Published in:

Cells (2073-4409), 2023, v. 12, n. 18, p. 2330, doi. 10.3390/cells12182330

By:

Tassone, Flora;
Protic, Dragana;
Allen, Emily Graves;
Archibald, Alison D.;
Baud, Anna;
Brown, Ted W.;
Budimirovic, Dejan B.;
Cohen, Jonathan;
Dufour, Brett;
Eiges, Rachel;
Elvassore, Nicola;
Gabis, Lidia V.;
Grudzien, Samantha J.;
Hall, Deborah A.;
Hessl, David;
Hogan, Abigail;
Hunter, Jessica Ezzell;
Jin, Peng;
Jiraanont, Poonnada;
Klusek, Jessica

Publication type:

Article

Perinatal Genetic Screening From the Perspective of India-Born Individuals and Healthcare Providers in Victoria, Australia: A Community-Engaged Grounded Theory Protocol.

Published in:

International Journal of Qualitative Methods, 2025, p. 1, doi. 10.1177/16094069251316998

By:

Kanga-Parabia, Anaita;
Biggs, Laura J.;
Dawson-McClaren, Belinda;
Lewis, Sharon;
Pangli, Karamdeep K.;
Archibald, Alison D.

Publication type:

Article

Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Published in:

Australian Journal of General Practice, 2024, v. 53, p. S78, doi. 10.31128/ajgp-10-23-6989

By:

Leibowitz, Ruth;
Lewis, Sharon;
Delatycki, Martin;
Massie, John;
Emery, Jon;
Archibald, Alison

Publication type:

Article

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Published in:

Australian Journal of General Practice, 2019, v. 48, n. 3, p. 106

By:

Delatycki, Martin B.;
Laing, Nigel G.;
Moore, Sarah J.;
Emery, Jon;
Archibald, Alison D.;
Massie, John;
Kirk, Edwin P.

Publication type:

Article

Ethical considerations in gene selection for reproductive carrier screening.

Published in:

Human Genetics, 2022, v. 141, n. 5, p. 1003, doi. 10.1007/s00439-021-02341-9

By:

Dive, Lisa;
Archibald, Alison Dalton;
Newson, Ainsley J.

Publication type:

Article

Scaling-up and future sustainability of a national reproductive genetic carrier screening program.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00357-w

By:

Fehlberg, Zoe;
Best, Stephanie;
Long, Janet C.;
Theodorou, Tahlia;
Pope, Catherine;
Hibbert, Peter;
Williams, Sharon;
Freeman, Lucinda;
Righetti, Sarah;
Archibald, Alison D.;
Braithwaite, Jeffrey

Publication type:

Article