Publications by authors named "Alison D Archibald"

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Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
Sebastian Lunke, Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Paul De Fazio, Alison D Archibald

Nat Med· December 2025

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Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, Alison D Archibald, Belinda Dawson-McClaren

Eur J Hum Genet· November 2025

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Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy.
Nicola J Flowers, Clare J Love, Katrina L Scarff, Olivia Giouzeppos, Alison D Archibald

Clin Chem· October 2025

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Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
Edwin Kirk, Linda Mundy, Eric Lee, Ben Lundie, Nigel Laing, Alison D Archibald

Pathology· August 2025

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Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.
Erin Tutty, Belinda J McClaren, Sharon Lewis, Kristine Barlow-Stewart, Tiffany Boughtwood, Alison D Archibald

Eur J Hum Genet· August 2025

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Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.
Riccarda Peters, Stephanie Best, Fiona Lynch, Danya F Vears, Lilian Downie, Alison D Archibald

Am J Hum Genet· July 2025

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Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review.
Anaita Kanga-Parabia, Alison D Archibald, Laura J Biggs, Sharon Lewis, Erin Tutty

Eur J Hum Genet· June 2025

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Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.
Lucinda Freeman, Alison D Archibald, Lisa Dive, Martin B Delatycki, Edwin P Kirk

Eur J Hum Genet· March 2025

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Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.
Elisha Swainson, Erin Tutty, Lucinda Freeman, Lisa Dive, Belinda Dawson McClaren, Alison D Archibald

Eur J Hum Genet· March 2025

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'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.
Marta Cifuentes Ochoa, Alison Dalton Archibald, Nicola Jane Flowers, Mark Domenic Pertile

Prenat Diagn· February 2025

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Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences.
Zoe Fehlberg, Janet C Long, Anaita Kanga-Parabia, Alison D Archibald, Jeffrey Braithwaite

Clin Teach· February 2025

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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework.
Erin Tutty, Alison D Archibald, Lilian Downie, Clara Gaff, Sebastian Lunke

Eur J Hum Genet· December 2024

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Nationwide, Couple-Based Genetic Carrier Screening.
Edwin P Kirk, Martin B Delatycki, Alison D Archibald, Erin Tutty, Jade Caruana

N Engl J Med· November 2024

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Gene selection for genomic newborn screening: Moving toward consensus?
Lilian Downie, Sophie E Bouffler, David J Amor, John Christodoulou, Alison Yeung, Alison D Archibald

Genet Med· May 2024

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Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald

Hum Genomics· May 2024

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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald

Int J Neonatal Screen· January 2024

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Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach.
Stephanie Best, Janet C Long, Zoe Fehlberg, Alison D Archibald, Jeffrey Braithwaite

Aust J Prim Health· October 2023

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"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners.
Marta Cifuentes Ochoa, Nicola Jane Flowers, Mark Domenic Pertile, Alison Dalton Archibald

J Genet Couns· October 2023

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D Archibald, Anna Baud

Cells· September 2023

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Scaling-up and future sustainability of a national reproductive genetic carrier screening program.
Zoe Fehlberg, Stephanie Best, Janet C Long, Tahlia Theodorou, Catherine Pope, Alison D Archibald

NPJ Genom Med· July 2023

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How should severity be understood in the context of reproductive genetic carrier screening?
Lisa Dive, Alison D Archibald, Lucinda Freeman, Ainsley J Newson

Bioethics· May 2023

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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".
Miranda F Lewit-Mendes, Hazel Robson, Joanne Kelley, Justine Elliott, Erica Brown, Alison D Archibald

J Genet Couns· February 2023

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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.
Katrina L Scarff, Nicola Flowers, Clare J Love, Alison D Archibald, Clare E Hunt

Prenat Diagn· February 2023

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King

J Pers Med· October 2022

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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.
Sarah Righetti, Lisa Dive, Alison D Archibald, Lucinda Freeman, Belinda McClaren

Genet Med· May 2022

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