Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Martin Delatycki"'
Autor:
Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adu
Externí odkaz:
https://doaj.org/article/3db51aa91e4d4222a42db0a751cb4260
Autor:
Sirio Cocozza, Sara Bosticardo, Matteo Battocchio, Louise Corben, Martin Delatycki, Gary Egan, Nellie Georgiou‐Karistianis, Serena Monti, Giuseppe Palma, Chiara Pane, Francesco Saccà, Simona Schiavi, Louisa Selvadurai, Mario Tranfa, Alessandro Daducci, Arturo Brunetti, Ian H. Harding
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1691-1702 (2024)
Abstract Objective The dentato‐thalamo‐cortical tract (DTT) is the main cerebellar efferent pathway. Degeneration of the DTT is a core feature of Friedreich ataxia (FRDA). However, it remains unclear whether DTT disruption is spatially specific,
Externí odkaz:
https://doaj.org/article/d4eb1b573f2a4570a1fdf5b47c296bef
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 953-963 (2023)
ABSTRACT Objective Recent studies have found that human Friedreich ataxia patients have dysfunction of transmission in the auditory neural pathways. Here, we characterize hearing deficits in a mouse model of Friedreich ataxia and compare these to a c
Externí odkaz:
https://doaj.org/article/dddc2ed16fe549c38f90732743a3153c
Autor:
Stephanie Best, Melissa Martyn, Ling Lee, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Martin Delatycki, Lilian Downie, Sebastian Lunke, Elly Lynch, Belinda Chong, Lisette Curnow, Fiona Lynch, Sophie E Bouffler, Ivan Macciocca, Giulia McCorkell, Justine E Marum, Danya F Vears, Clara L Gaff
Publikováno v:
BMJ Open, Vol 13, Iss 6 (2023)
Introduction As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for many different types of AF may be avail
Externí odkaz:
https://doaj.org/article/7b9c2441a5ce4fef80e3d9c1afb28803
Autor:
Martin Delatycki
Publikováno v:
Fertility & Reproduction, Vol 05, Iss 04, Pp 258-258 (2023)
Advances in genetics have had a huge impact on reproductive choices. Reproductive carrier screening has transitioned from testing for a small number of conditions, often ethnically specific, to pan ethnic large panels. The Australian Reproductive Gen
Externí odkaz:
https://doaj.org/article/93f730c98c5149768f9667a73358d719
Autor:
Jane Tiller, Aideen McInerney-Leo, Andrea Belcher, Tiffany Boughtwood, Penny Gleeson, Martin Delatycki, Kristine Barlow-Stewart, Ingrid Winship, Margaret Otlowski, Louise Keogh, Paul Lacaze
Publikováno v:
BMC Medical Ethics, Vol 22, Iss 1, Pp 1-14 (2021)
Abstract Background The use of genetic test results in risk-rated insurance is a significant concern internationally, with many countries banning or restricting the use of genetic test results in underwriting. In Australia, life insurers’ use of ge
Externí odkaz:
https://doaj.org/article/6ad283767a6941b2b17b4811e5806dae
Autor:
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes w
Externí odkaz:
https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc
Autor:
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J. Brown, Kate Pope, Cherie C. Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Sp
Externí odkaz:
https://doaj.org/article/7d85cf9b4a764a35955099983a2154e6
Publikováno v:
Frontiers in Public Health, Vol 6 (2018)
In Australia and New Zealand, by contrast with much of the developed world, insurance companies can use genetic test results to refuse cover or increase premiums for mutually-rated insurance products, including life, income protection and disability
Externí odkaz:
https://doaj.org/article/a7bd9cddb1c1424884242ab059b1e087
Autor:
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247