Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Autor: Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, Sarah E Calvo, Sabine W Grønborg, Emma I Krzesinski, David J Amor, Michael C Fahey, Cas Simons, Flemming Wibrand, Vamsi K Mootha, Monkol Lek, Sebastian Lunke, Zornitza Stark, Elsebet Østergaard, John Christodoulou, David R Thorburn, David A Stroud, Alison G Compton

Publikováno v: Human Molecular Genetics.

MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the mitoribosome synthesizes the 13 subunits of the mitochondrial oxidative phosphoryla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::816fde7086f5cb842c879e453a664cc4
https://doi.org/10.1093/hmg/ddad069

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Autor: Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, Lilian Johnstone

Publikováno v: Genetics in Medicine

Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ce68ae635ad6990da54397a9010d63
https://doi.org/10.1038/s41436-020-00963-4

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Autor: Maie Walsh, Joshua Schultz, Sebastian Lunke, Paul A. James, Tianxin Pan, Zornitza Stark, Ilias Goranitis, Zanfina Ademi, Anna Jarmolowicz, Mathew Wallis, Dennis Velakoulis, Belinda Creighton, Aamira Huq, Michael C Fahey, Kirsty West, Dean Phelan, Yael Prawer, J. Taylor, Martin B. Delatycki, Melanie O'Keefe, Amy L Schneider, Clara Gaff, Ella Lynch, Yana Smagarinsky, Haloom Rafehi, Eloise Uebergang, Dhamidhu Eratne, Rebecca Purvis, Heather Chalinor, Chloe A Stutterd, Emma I. Krzesinski, Melissa Martyn, Kirby Siemering, Patrick Kwan, Samuel F. Berkovic, Nikki Gelfand, Belinda Chong, Tamar Saks, Melanie Bahlo, Richard J. Leventer, Adrienne Sexton

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7036dfbb78e1ed249f7d35d0651934a7
https://hdl.handle.net/10453/154663

Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system

Autor: Anna E. Richards, Emma I. Krzesinski, Stefanie Eggers, Lauren Hunt, Michelle G. de Silva, Matthew S. Edwards, Megan Higgins, Lyndon Gallacher, Stephanie Best, Kirsten Boggs, Lindsay F. Fowles, Sarah Lang, Alan Ma, Edwin P. Kirk, Zornitza Stark, George Elakis, Natasha J Brown, Lauren S. Akesson, Michael Buckley, Alison Yeung, Sebastian Lunke, Michael C Fahey, Susan M. White, Christopher M. Richmond, Amanda Springer, David Mowat, Alessandra Bray, Janine Smith, Sarah Borrie, Luregn J. Schlapbach, Jessica R. Riseley, Ying Zhu, Jonathan Rodgers, Dean Phelan, Rani Sachdev, Chirag Patel, Sarah A. Sandaradura, Sarah R. B. King, Christopher P. Barnett, John Christodoulou, Maelle Le Moing, Lesley C. Adès, Gemma R Brett, Katherine B. Howell, Meredith Wilson, Matthew F. Hunter, Anne Baxendale, Natalie B Tan, Belinda Chong, Anand Vasudevan, Tiong Yang Tan, Kristi J. Jones, Christiane Theda, Michael C.J. Quinn, Andrew Fennell, Jason Pinner, Smitha Kumble, Melissa Martyn, Tony Roscioli, Cheng Yee Chan, Simon Sadedin, Corrina Cliffe, David J. Amor, Suzanna L. Temple, Samantha Ayres, Martin B. Delatycki

Multiple studies have shown that genomic testing has a high diagnostic yield and an impact on clinical management for patients with suspected genetic conditions. Therefore, there has been a push worldwide to apply rapid genomic sequencing in critical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a33ca900ac169cc9fafbd67055827d1
https://hdl.handle.net/11541.2/145752

Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate

Autor: Matthew F. Hunter, Zornitza Stark, Andrew Fennell, Sandra T. Cooper, Ilias Goranitis, Adam Bournazos, Sebastian Lunke, Crystle Lee, Emma I. Krzesinski, David S. Francis, Katherine Rose, John Christodoulou, Kenneth Tan, Amanda Springer, Lauren S. Akesson

Publikováno v: Pathology. 52:S106

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::942677470c4683d9051f74c87a688266
https://doi.org/10.1016/j.pathol.2020.01.363