Alison Archibald

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

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

Journal article  |  2023  |  Bioethics

Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditio..

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, Melody Menezes, Alison D Archibald

Journal article  |  2023  |  J Genet Couns

Many non-invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally inclu..

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 LL Scarff, Nicola Flowers, Clare JJ Love, Alison DD Archibald, Clare EE Hunt, Olivia Giouzeppos, Justine Elliott, Martin BB Delatycki, Mark DD Pertile

Journal article  |  2023  |  PRENATAL DIAGNOSIS

OBJECTIVES: To evaluate the performance of cell-free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal proce..

The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.

Stephanie Best, Janet C Long, Zoe Fehlberg, Tahlia Theodorou, Sarah Hatem, Alison Archibald, Jeffrey Braithwaite

Journal article  |  2022  |  Eur J Hum Genet

Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As awarene..

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, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia O Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D Emery, Julie McGaughran, Justine E Marum, et al.

Journal article  |  2022  |  JOURNAL OF PERSONALIZED MEDICINE

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosoma..

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

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

Journal article  |  2022  |  AUSTRALIAN JOURNAL OF PRIMARY HEALTH

BACKGROUND: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of G..

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, Anaita Kanga-Parabia, Martin B Delatycki, Nigel G Laing, Edwin P Kirk, Ainsley J Newson, undefined counselling, psycho-social, and implementation science teams at Mackenzie’s Mission and the Gene Selection Committee

Journal article  |  2022  |  Genet Med

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Development and use of the Australian reproductive genetic carrier screening decision aid

Emily King, Jane Halliday, Alison D Archibald, Martin Delatycki, Kristine Barlow-Stewart, Ainsley J Newson, Belinda J McClaren

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Reproductive genetic carrier screening (RGCS) may be offered to all individuals and couples, regardless of family history or ethni..

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

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

Journal article  |  2021  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally tr..