Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Katrina Fisk"'
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Akademický článek
A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency
Autor: Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard deJong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk
Publikováno v: JIMD Reports, Vol 63, Iss 4, Pp 271-275 (2022)
Abstract Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants
Externí odkaz: https://doaj.org/article/8369048c96c14402aa1d899a83ae76a9
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2
Akademický článek
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
Autor: Hope A. Tanudisastro, Katherine Holman, Gladys Ho, Elizabeth Farnsworth, Katrina Fisk, Thet Gayagay, Emma Hackett, Gemma Jenkins, Rahul Krishnaraj, Tiffany Lai, Karen Wong, Chirag Patel, Amali Mallawaarachchi, Andrew J. Mallett, Bruce Bennetts, Stephen I. Alexander, Hugh J. McCarthy
Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
Abstract Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missin
Externí odkaz: https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8
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4
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
Autor: Bruce Bennetts, David Francis, David J. Amor, Alison D Archibald, Rob Thomas, Gladys Ho, Essra Bartlett, Martin B. Delatycki, Gemma O'Farrell, Gabrielle Chandler, Emma Baker, Alison Pandelache, Katrina Fisk, Ling Ling, David E. Godler, Lisa Ward
Publikováno v: American Journal of Medical Genetics Part A. 188:304-309
The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (FM: ≥ 200 CGG) that causes fragile X syndrome (F
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b73de4df537d7d524617fc5d9db6baa
https://doi.org/10.1002/ajmg.a.62500
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5
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Autor: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v: Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611
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6
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
Autor: Tiffany Lai, Hope A Tanudisastro, Katherine Holman, Katrina Fisk, Bruce Bennetts, Andrew Mallett, Emma L. Hackett, Stephen I. Alexander, Karen Wong, Gladys Ho, Elizabeth Farnsworth, Hugh J. McCarthy, Amali Mallawaarachchi, Gemma Jenkins, Thet Gayagay, Chirag Patel, Rahul Krishnaraj
Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
NPJ Genomic Medicine
Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d51f60b0671870f2fc386074b16f55
https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8
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