Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Autor: Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, J Andrew Black, Alex Brown, John R Burnett, Christina A Bursill, Alison Colley, Peter M Clifton, Elif I Ekinci, Gemma A Figtree, Brett H Forge, Jacquie Garton-Smith, Dorothy F Graham, Ian Hamilton-Craig, Christian R Hamilton-Craig, Clare Heal, Charlotte M Hespe, Amanda J Hooper, Laurence G Howes, Jodie Ingles, Edward D Janus, Nadarajah Kangaharan, Anthony C Keech, Andrew B Kirke, Leonard Kritharides, Campbell V Kyle, Paul Lacaze, Stephen CH Li, Stjepana Maticevic, Brendan M McQuillan, Sam Mirzaee, Trevor A Mori, Allison C Morton, David M Colquhoun, Joanna C Moullin, Paul J Nestel, Kristen J Nowak, Richard C O'Brien, Nicholas Pachter, Michael M Page, Peter J Psaltis, Jan Radford, Nicola J Reid, Elizabeth N Robertson, Jacqueline DM Ryan, Mitchell N Sarkies, Carl J Schultz, Russell S Scott, Christopher Semsarian, Leon A Simons, Catherine Spinks, Andrew M Tonkin, Frank van Bockxmeer, Kathryn E Waddell-Smith, Natalie C Ward, Harvey D White, Andrew M Wilson, Ingrid Winship, Ann Marie Woodward, Stephen J Nicholls, Peter Brett, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti

Publikováno v: American Journal of Preventive Cardiology, Vol 6, Iss , Pp 100151- (2021)

Summary: Introduction: Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practic

Externí odkaz: https://doaj.org/article/dc3b0f2fd062444885e764503620da67

The impact of coding germline variants on contralateral breast cancer risk and survival

Autor: Anna Morra, Nasim Mavaddat, Taru A. Muranen, Thomas U. Ahearn, Jamie Allen, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Sabine Behrens, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Nicola J. Camp, Sara Carvalho, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Georgia Chenevix-Trench, Kamila Czene, Brennan Decker, Joe Dennis, Thilo Dörk, Leila Dorling, Alison M. Dunning, Arif B. Ekici, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Montserrat García-Closas, Willemina R.R. Geurts-Giele, Graham G. Giles, Pascal Guénel, Melanie Gündert, Eric Hahnen, Per Hall, Ute Hamann, Patricia A. Harrington, Wei He, Päivi Heikkilä, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, Anna Jakubowska, Audrey Y. Jung, Renske Keeman, Vessela N. Kristensen, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Anna Marie Mulligan, William G. Newman, Tjoung-Won Park-Simon, Paolo Peterlongo, Paul D.P. Pharoah, Valerie Rhenius, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Amanda B. Spurdle, Ian Tomlinson, Thérèse Truong, Elke M. van Veen, Maaike P.G. Vreeswijk, Qin Wang, Camilla Wendt, Xiaohong R. Yang, Heli Nevanlinna, Peter Devilee, Douglas F. Easton, Marjanka K. Schmidt, Kristine K. Sahlberg, Anne-Lise Børresen-Dale, Inger Torhild Gram, Karina Standahl Olsen, Olav Engebråten, Bjørn Naume, Jürgen Geisler, null OSBREAC, Grethe I. Grenaker Alnæs, David Amor, Lesley Andrews, Yoland Antill, Rosemary Balleine, Jonathan Beesley, Ian Bennett, Michael Bogwitz, Leon Botes, Meagan Brennan, Melissa Brown, Michael Buckley, Jo Burke, Phyllis Butow, Liz Caldon, Ian Campbell, Michelle Cao, Anannya Chakrabarti, Deepa Chauhan, Manisha Chauhan, Alice Christian, Paul Cohen, Alison Colley, Ashley Crook, James Cui, Eliza Courtney, Margaret Cummings, Sarah-Jane Dawson, Anna DeFazio, Martin Delatycki, Rebecca Dickson, Joanne Dixon, Ted Edkins, Stacey Edwards, Gelareh Farshid, Andrew Fellows, Georgina Fenton, Michael Field, James Flanagan, Peter Fong, Laura Forrest, Stephen Fox, Juliet French, Michael Friedlander, Clara Gaff, Mike Gattas, Peter George, Sian Greening, Marion Harris, Stewart Hart, Nick Hayward, John Hopper, Cass Hoskins, Clare Hunt, Paul James, Mark Jenkins, Alexa Kidd, Judy Kirk, Jessica Koehler, James Kollias, Sunil Lakhani, Mitchell Lawrence, Jason Lee, Shuai Li, Geoff Lindeman, Lara Lipton, Liz Lobb, Sherene Loi, Graham Mann, Deborah Marsh, Sue Anne McLachlan, Bettina Meiser, Roger Milne, Sophie Nightingale, Shona O'Connell, Sarah O'Sullivan, David Gallego Ortega, Nick Pachter, Jia-Min Pang, Gargi Pathak, Briony Patterson, Amy Pearn, Kelly Phillips, Ellen Pieper, Susan Ramus, Edwina Rickard, Bridget Robinson, Mona Saleh, Anita Skandarajah, Elizabeth Salisbury, Christobel Saunders, Jodi Saunus, Rodney Scott, Clare Scott, Adrienne Sexton, Andrew Shelling, Peter Simpson, Melissa Southey, Amanda Spurdle, Jessica Taylor, Renea Taylor, Heather Thorne, Alison Trainer, Kathy Tucker, Jane Visvader, Logan Walker, Rachael Williams, Ingrid Winship, Mary Ann Young, Milita Zaheed

Publikováno v: American Journal of Human Genetics
Morra, A, Mavaddat, N, Muranen, T A, Ahearn, T U, Allen, J, Andrulis, I L, Auvinen, P, Becher, H, Behrens, S, Blomqvist, C, Bojesen, S E, Bolla, M K, Brauch, H, Camp, N J, Carvalho, S, Castelao, J E, Cessna, M H, Chang-Claude, J, Chenevix-Trench, G, Czene, K, Decker, B, Dennis, J, Dörk, T, Dorling, L, Dunning, A M, Ekici, A B, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J D, Flyger, H, Gago-Dominguez, M, García-Closas, M, Geurts-Giele, W R R, Giles, G G, Guénel, P, Gündert, M, Hahnen, E, Hall, P, Hamann, U, Harrington, P A, He, W, Heikkilä, P, Hooning, M J, Hoppe, R, Howell, A, Humphreys, K, Jakubowska, A, Jung, A Y, Keeman, R, Kristensen, V N, Lubiński, J, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Mavroudis, D, Milne, R L, Mulligan, A M, Newman, W G, Park-Simon, T-W, Peterlongo, P, Pharoah, P D P, Rhenius, V, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Spurdle, A B, Tomlinson, I, Truong, T, van Veen, E M, Vreeswijk, M P G, Wang, Q, Wendt, C, Yang, X R, Nevanlinna, H & Devilee, P & Easton, D F & Schmidt, M K 2023, ' The impact of coding germline variants on contralateral breast cancer risk and survival ', American Journal of Human Genetics, vol. 110, no. 3, pp. 475-486 . https://doi.org/10.1016/j.ajhg.2023.02.003

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3606211c9deba682d78e97c763520f8
https://hdl.handle.net/11250/3079721

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Autor: Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

Publikováno v: European journal of human genetics : EJHG. 30(10)

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6f9de4b9af8f6385a7da9953edaf85
https://pubmed.ncbi.nlm.nih.gov/35970915

Beyond the panel: preconception screening in consanguineous couples using the TruSight One 'clinical exome'

Autor: Edwin P. Kirk, Velimir Gayevskiy, Sulekha Rajagopalan, Arthavan Selvanathan, Kristine Barlow-Stewart, George Elakis, Michael Buckley, Sarah Josephi-Taylor, William Lo, Lisa Worgan, Alan H. Bittles, Tony Roscioli, Alison Colley, Mark J. Cowley, Leslie Burnett

Publikováno v: Genetics in Medicine. 21:608-612

To provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples. Consanguineous couples were screened for autosomal recessive and X-linked disorders using the TruSight On

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf46f9d84263f7a481f0f21d9845abab
https://doi.org/10.1038/s41436-018-0082-9

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Autor: Michael Buckley, Lisa Worgan, Mary-Louise Freckmann, David Mowat, Edwin P. Kirk, Michael Field, Kevin Ying, Velimir Gayevskiy, Ying Zhu, Michelle Lipke, Marcel E. Dinger, Lisa Ewans, Eric Lee, Corrina Walsh, Tony Roscioli, Rupendra N. Shrestha, Alison Colley, Deborah Schofield, Mark J. Cowley, David Miller, Carolyn Ellaway, Anne M. Turner, Rani Sachdev

Publikováno v: Genetics in Medicine. 20:1564-1574

© 2018, American College of Medical Genetics and Genomics. Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef03368de70da72a1ebfeb3b2ce94aa0
https://doi.org/10.1038/gim.2018.39