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T

Tiffany Boughtwood

murdoch childrens research institute
H指数:20
被引数:1,759

个人简介

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教育背景

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工作经历

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荣誉奖项

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Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses

使用扩展基因组学和RNA剪接分析提高遗传性心脏病的基因诊断产量

Genetics in Medicine
IF6.2
2025-10-290
OAAI
Yuchen Chang; Emma M. Rath; Magdalena Soka; Emma S. Singer; Gunjan Trivedi; Charlotte Burns; Rachel Austin; Tiffany Boughtwood; Jaye S. Brown; Sarah Casauria; Belinda Chong; Jasmina Cvetkovska; Sally L. Dunwoodie; Sebastian Lunke; Tessa Mattiske; Julie McGaughran; Sarah-Jane Pantaleo; Michael C.J. Quinn; Chris Semsarian; Ivan Macciocca; Jodie Ingles; Diane Fatkin; Eleni Giannoulatou; Richard D. Bagnall
The evolution of health data ecosystems: An international survey

健康数据生态系统的演变：一项国际调查

american journal of human genetics
IF0
2025-07-210
PRE
Jordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy

遗传生殖携带者筛查指南：囊性纤维化、脆性X综合征和脊髓性肌萎缩症

Pathology
IF3
2025-03-260
PRE
Edwin Kirk; Linda Mundy; Eric Lee; Ben Lundie; Nigel Laing; Alison D. Archibald; Ainsley J. Newson; Kym Mina; Kevin Carpenter; Kate Neas; Richard King; Monica Ferrie; Sebastian Lunke; Tiffany Boughtwood; Martin B. Delatycki; Jon Emery; Helen Mountain; Lisa Hui; Lisa Dive; Michelle A. Farrar; John Massie
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023
HUMAN GENOMICS
IF4.3
2024-08-172
OAAI
Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析

GENETICS IN MEDICINE
IF6.2
2024-05-012
PRE
Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony
Equity, diversity, and inclusion at the Global Alliance for Genomics and Health
CELL GENOMICS
IF9
2023-10-013
OAAI
Skantharajah, Neerjah; Baichoo, Shakuntala; Boughtwood, Tiffany F.; Casas-Silva, Esmeralda; Chandrasekharan, Subhashini; Dave, Sanjay M.; Fakhro, Khalid A.; de Vargas, Aida B. Falcon; Gayle, Sylvia S.; Gupta, Vivek K.; Hendricks-Sturrup, Rachele; Hobb, Ashley E.; Li, Stephanie; Llamas, Bastien; Lopez-Correa, Catalina; Machirori, Mavis; Melendez-Zajgla, Jorge; Millner, Mareike A.; Page, Angela J. H.; Pagilone, Laura D.; Raven-Adams, Maili C.; Smith, Lindsa; Thomas, Ericka M.; Kumthini, Judi; Corpas, Manuel
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

澳大利亚基因组学: 一项为期5年的国家计划的成果，以加速基因组学在医疗保健中的整合

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-03-0130
OAAI
Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L.; Goranitis, Ilias; Spurdle, Amanda B.; Hansen, David P.; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J.; Scott, Hamish S.; Thorne, Natalie; Ward, Robyn L.; Dinger, Marcel E.; Best, Stephanie; Long, Janet C.; Grimmond, Sean M.; Pearson, John; Waddell, Nicola; Barnett, Christopher P.; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B.; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J.; Lockhart, Paul J.; Lunke, Sebastian; Mallett, Andrew J.; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E.; Semsarian, Christopher; Simons, Cas; Thomas, David M.; Thorburn, David R.; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T.; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael CJ.; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H.; Christodoulou, John; North, Kathryn N.

研究方向

暂未获取到该数据
Z
Zornitza Stark
H 指数:52论文数:339被引数:1.1万
M
Martin B. Delatycki
H 指数:70论文数:525被引数:1.7万
J
Jane Tiller
H 指数:32论文数:153被引数:3,303
M
Margaret Otlowski
H 指数:27论文数:319被引数:2,704
K
Kristine Barlow‐Stewart
H 指数:32论文数:181被引数:3,360
S
Sebastian Lunke
H 指数:38论文数:158被引数:4,876
S
Stephanie Best
H 指数:29论文数:203被引数:2,962
I
Ingrid Winship
H 指数:60论文数:494被引数:1.7万
I
Ilias Goranitis
H 指数:28论文数:144被引数:2,205
A
Aideen McInerney‐Leo
H 指数:34论文数:173被引数:4,124