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Zornitza Stark

Murdoch Children's Research Institute

52H指数
339论文数
1.1W被引数
收录论文 163
发表时间
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Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study新生儿基因组筛查的规模化:来自BabyScreen+研究的实施经验
err2026-07-23
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errOAAI
errNathasha Kugenthiran; Erin Tutty; Anaita Kanga-Parabia; Jade Caruana; Katrina Scarff; Nitzan Lang; Lilian Downie; Sebastian Lunke; Alison D. Archibald; Zornitza Stark; Stephanie Best
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Australian parents’ perspectives on extended genomic screening: what information to return and when?澳大利亚父母对扩展基因组筛查的看法:应返回哪些信息以及何时返回?
err2026-06-27
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errOAAI
errFiona Lynch; Christopher Gyngell; Stephanie Best; Clara Gaff; Lilian Downie; Alison Archibald; Ilias Goranitis; Julian Savulescu; Sebastian Lunke; Zornitza Stark; Danya F. Vears
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Automated reanalysis of genomic data for rare disease diagnostics at scale大规模罕见疾病诊断的基因组数据自动化再分析
err2026-06-24
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errOAAI
errMatthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
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Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing基因组新生儿筛查的健康经济学评价:国际新生儿测序联盟内各研究的方法
err2026-06-04
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PREAI
errHadley Stevens Smith; Martin Vu; Tamara Dangouloff; Camille Schubert; Camille Level; Ramesh Lamsal; Kurt D. Christensen; Zornitza Stark; Ilias Goranitis; Matthew Aujla; Thomas Westover; Amy Ponte; Nidhi Shah; Laurent Servais; Miranda Bailey; Tara A. Lavelle; Scott D. Grosse; Sarah Norris; James Buchanan
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Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen肾小球表型的基因-疾病关系: ClinGen的专家建议
err2026-05-21
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PREAI
errAlicia B. Byrne; Anna S. Li; Edmund Y. M. Chung; Enyonam Edoh; Hannah Dziadzio; Pamela Ajuyah; Elisabet Ars; Yasar Caliskan; Ahmet Burak Dirim; Mark D. Elliott; Asheeta Gupta; Kushani Jayasinghe; Andrew J. Mallett; Julie C. Ratliff; Matthew G. Sampson; Judy Savige; Johannes S. Schlondorff; Zornitza Stark; Ryan F. Webb; Parker C. Wilson; Janewit Wongboonsin; Martin R. Pollak; Hugh J. McCarthy; Catherine Quinlan; Rachel Lennon
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KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityKCNQ2新生儿癫痫:及时诊断和治疗的影响,以及结局严重程度的早期预测因素
err2026-05-04
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errOAAI
errTrupti Jadhav; Sophie E. Bouffler; Emily Innes; Michael Fahey; Matthew Hunter; Kavitha Kothur; Sebastian Lunke; Matthew Lynch; Emma Macdonald-Laurs; Elizabeth Emma Palmer; Chirag Patel; Jason Pinner; Kate Riney; Rani Sachdev; Sarah A. Sandaradura; Ingrid E. Scheffer; Zornitza Stark; Katherine B. Howell
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Genomic Newborn Screening: Verdict From an Australian Citizens’ Jury基因组新生儿筛查:澳大利亚公民陪审团的裁决
err2026-04-10
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errOAAI
errYves Saint James Aquino; Joanne Scarfe; Diana Popic; Lucy Carolan; Chris Degeling; Kathleen Prokopovich; Margaret F. A. Otlowski; Saniya Singh; Belinda Fabrianesi; Kaustuv Bhattacharya; Kristi Jones; Ainsley J. Newson; Patti Shih; Bruce Bennetts; Emma Frost; Zornitza L. Stark; Kristen Nowak; Louise Healy; Sarah Norris; Stacy M. Carter
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Mainstreaming genomic testing for mitochondrial disease in Australia将线粒体疾病的基因组检测纳入澳大利亚主流医学体系
err2026-02-26
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errOAAI
errMegan Ball; Naomi Baker; Sze Chern Lim; Sarah Casauria; Sebastian Lunke; Alison G. Compton; David R. Thorburn; John Christodoulou; Zornitza Stark
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Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study父母接收基因组新生儿筛查结果的经验:BabyScreen+研究的发现
err2026-02-24
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errErin Tutty; Anaita Kanga-Parabia; Nathasha Kugenthiran; Jade Caruana; Lilian Downie; Clara Gaff; Nitzan Lang; Sebastian Lunke; Katrina Scarff; Zornitza Stark; Stephanie Best; Alison D. Archibald
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Impact of a digital platform on genetic counselling encounters in the screening context数字平台在筛查背景下对遗传咨询会话的影响
err2026-02-13
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errOAAI
errChloe Mighton; Alli Jan; Ling Lee; Sophie Bouffler; Lilian Downie; Marc Clausen; Clara Gaff; Yvonne Bombard; Zornitza Stark; Melissa Martyn
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorderKDM2A基因中的全新变异导致一种综合征性神经发育障碍
err2026-01-01
err1
errOAAI
errAnderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad
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Determining the value of genomics in healthcare确定基因组学在医疗保健中的价值
err2025-11-27
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PREAI
errIlias Goranitis; Robin Z. Hayeems; Hadley Stevens Smith; James Buchanan; Deirdre Weymann; Dean A. Regier; Michael P. Mackley; Richard H. Scott; Sue L. Hill; Brian H. Y. Chung; Claudia C. Y. Chung; Stephanie Best; Emma L. Baple; Zornitza Stark
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Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing将Wilson-Jungner原则应用于基因组学时代:新生儿测序国际联盟的共识建议
err2025-10-24
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PREAI
errLilian Downie; Julie Yeo; Thomas Minten; Rose Heald; Derek Ansel; Mei Baker; Jorune Balciuniene; Jonathan S. Berg; François Boemer; Wendy K. Chung; Heidi L. Cope; David J. Eckstein; Nicolas Encina; Laurence Faivre; Alessandra Ferlini; Judit García-Villoria; Michael H. Gelb; José Manuel González De Aledo-Castillo; Katie Golden-Grant; Richard B. Parad; Nidhi Shah; Zornitza Stark; Kristen L. Sund; Petros Tsipouras; Meekai To; David Bick; Robert C. Green; Nina B. Gold
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function致病性UNC13A变异通过损害突触功能导致神经发育综合征
err2025-10-22
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errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study可行性、可接受性及BabyScreen+基因组新生儿筛查研究的临床结果
err2025-10-09
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errOAAI
errSebastian Lunke; Lilian Downie; Jade Caruana; Nathasha Kugenthiran; Paul De Fazio; Sebastian Hollizeck; Sophie E. Bouffler; David J. Amor; Alison D. Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Wendy Fagan; Clara Gaff; Ronda F. Greaves; Christopher Gyngell; Anaita Kanga-Parabia; Nitzan Lang; Crystle Lee; Fiona Lynch; Anthony Marty; Melanie Marty; Candice McGregor; Jessica Riseley; Simon Sadedin; Katrina Scarff; Michelle da Cunha Torres; Erin Tutty; Ching Vang; Meaghan Wall; Ee Ming Wong; Alison Yeung; Ilias Goranitis; Stephanie Best; Danya F. Vears; Zornitza Stark
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Role of CAMK2D in neurodevelopment and associated conditionsCAMK2D在神经发育及其相关疾病中的作用
err2025-08-11
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PREAI
errPomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van Woerden
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