Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Jackie Boyle"'
Autor:
Chloe Molnar, Iva Strnadová, Manjekah Dunn, Julie Loblinzk, Skie Sarfaraz, Yasmin Cathcart-King, Michelle Tso, Joanne Danker, Sarah Hayes, Sierra Angelina Willow, Jennifer Hansen, Tiffany Qing Lim, Jackie Boyle, Bronwyn Terrill, Jackie Leach Scully, Elizabeth Emma Palmer
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/9081aa2b37b946ab9a28bdf51b7e3ef2
Autor:
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo
Externí odkaz:
https://doaj.org/article/63d3a0019aca4329a6125469f294ebf6
Publikováno v:
Twin Research and Human Genetics. :1-7
This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests. In this Statement, the term ‘carrier testing’ refers to genetic testing in an indiv
Autor:
Iva Strnadová, Julie Loblinzk, Jackie Leach Scully, Joanne Danker, Michelle Tso, Karen-Maia Jackaman, Manjekah Dunn, Sierra Angelina Willow, Skie Sarfaraz, Vanessa Fitzgerald, Jackie Boyle, Elizabeth Emma Palmer
Publikováno v:
European Journal of Human Genetics.
There is limited research exploring the knowledge and experiences of genetic healthcare from the perspective of people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults with intell
Autor:
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
Publikováno v:
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784
http://hdl.handle.net/2066/290784
Publikováno v:
Twin Research and Human Genetics. 23:184-189
In 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical consideratio
Autor:
Jane Fleming, Huafrin Kotwal, Letitia Silberbauer, Jackie Boyle, Lucinda Murray, Kristine Barlow-Stewart, Elizabeth E. Palmer, Melanie Leffler
Publikováno v:
Journal of Genetic Counseling. 29:668-677
People with intellectual disability (PWID) consistently identify the importance of health service information that is accessible and relevant. Resources tailored to the information and support needs of PWID can facilitate inclusivity in their health
Autor:
Tony Roscioli, Louise Christie, Jackie Boyle, Rupendra N. Shrestha, Melanie Leffler, Nadine A. Kasparian, Michael Field, Radhika Rajkumar, Owen Tan, Deborah Schofield, Robert Tanton, Lucinda Murray, Morgan Rice, Sarah West, Jinjing Li
Publikováno v:
International Journal of Microsimulation. 13:52-66
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies. 24(6)
Human genetic and genomic information (HGI) is being generated, utilized and accessed across a wide range of healthcare settings. While traditionally clinical genetics services have maintained guardianship and enforced rigid protections of human gene
Publikováno v:
Twin Research and Human Genetics
The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic inf