S
Samantha Ayres
Publications - 7
Citations - 211
Samantha Ayres is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 4, co-authored 4 publications receiving 69 citations.
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Journal ArticleDOI
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Sebastian Lunke,Stefanie Eggers,Meredith Wilson,Chirag Patel,Christopher P. Barnett,Jason Pinner,Sarah A. Sandaradura,Michael Buckley,Emma I. Krzesinski,Michelle G. de Silva,Gemma R Brett,Kirsten Boggs,David Mowat,Edwin P. Kirk,Edwin P. Kirk,Lesley C. Adès,Lauren S. Akesson,David J. Amor,David J. Amor,Samantha Ayres,Anne Baxendale,Sarah Borrie,Alessandra Bray,Natasha J Brown,Cheng Yee Chan,Cheng Yee Chan,Belinda Chong,Corrina Cliffe,Martin B. Delatycki,Matthew S. Edwards,George Elakis,Michael C Fahey,Andrew Fennell,Lindsay F. Fowles,Lyndon Gallacher,Megan Higgins,Megan Higgins,Katherine B. Howell,Katherine B. Howell,Lauren Hunt,Lauren Hunt,Matthew F. Hunter,Kristi J. Jones,Sarah R. B. King,Smitha Kumble,Sarah Lang,Maelle Le Moing,Alan Ma,Dean Phelan,Michael C.J. Quinn,Anna E. Richards,Christopher M. Richmond,Jessica R. Riseley,Jonathan Rodgers,Rani Sachdev,Simon Sadedin,Luregn J. Schlapbach,Janine Smith,Amanda Springer,Natalie B Tan,Tiong Yang Tan,Suzanna L. Temple,Christiane Theda,Christiane Theda,Anand Vasudevan,Susan M. White,Alison Yeung,Ying Zhu,Melissa Martyn,Stephanie Best,Tony Roscioli,Tony Roscioli,John Christodoulou,Zornitza Stark +73 more
TL;DR: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system, however, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.
Journal ArticleDOI
Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.
TL;DR: Couning issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory.
Journal ArticleDOI
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Gemma R Brett,Melissa Martyn,Fiona Lynch,Michelle G. de Silva,Samantha Ayres,Lyndon Gallacher,Kirsten Boggs,Anne Baxendale,Sarah Schenscher,Sarah L King-Smith,Lindsay F. Fowles,Amanda Springer,Sebastian Lunke,Anand Vasudevan,Emma I. Krzesinski,Jason Pinner,Sarah A. Sandaradura,Christopher Barnett,Chirag Patel,Meredith Wilson,Zornitza Stark +20 more
TL;DR: This study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs.
Journal ArticleDOI
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo,Hui Guo,Qiumeng Zhang,Rujia Dai,Rujia Dai,Bin Yu,Kendra Hoekzema,Jieqiong Tan,Senwei Tan,Xiangbin Jia,Wendy K. Chung,Rebecca Hernan,Fowzan S. Alkuraya,Ahood Alsulaiman,Mohammad A. Al-Muhaizea,Gaetan Lesca,Linda Pons,Audrey Labalme,Linda Laux,Emily Bryant,Natasha J Brown,Elena Savva,Samantha Ayres,Dhamidhu Eratne,Hilde Peeters,Frédéric Bilan,Lucile Letienne-Cejudo,Brigitte Gilbert-Dussardier,Inge Lore Ruiz-Arana,Jenny Meylan Merlini,Alexia Boizot,Lucia Bartoloni,Federico Santoni,Danielle Karlowicz,Marie T. McDonald,Huidan Wu,Zhengmao Hu,Guodong Chen,Jianjun Ou,Charlotte Brasch-Andersen,Christina Fagerberg,Inken Dreyer,Anne chun-hui Tsai,Anne chun-hui Tsai,Valerie Slegesky,Rose B. McGee,Brina Daniels,Elizabeth A. Sellars,Lori A. Carpenter,Bradley Schaefer,Maria J. Guillen Sacoto,Amber Begtrup,Rhonda E. Schnur,Sumit Punj,Ingrid M. Wentzensen,Lindsay Rhodes,Qian Pan,Raphael Bernier,Chao Chen,Evan E. Eichler,Kun Xia,Kun Xia +61 more
TL;DR: Mouse in utero electroporation experiments reveal that Nckap1 loss of function promotes neuronal migration during early cortical development, and data support a role for disruptive NCKAP1 variants in neurodevelopmental delay/autism, possibly by interfering with neuronal migration early in cortical development.
Journal ArticleDOI
Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening
TL;DR: A potential role for genetic counselors is highlighted in the implementation of GNBS on a larger scale by developing educational resources to facilitate obtaining informed consent and return of results.