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John Christodoulou

murdoch children's research institute

77H指数
538论文数
2.7W被引数
收录论文 212
发表时间
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders对未诊断罕见疾病个体进行功能基因组检测的经济性评估
err2026-09-09
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errOAAI
errFrancisco Santos Gonzalez; Ellenore Martin; Madeleine Harris; Sarah Casauria; Fahaz Nazer; Smitha Kumble; Michelle G. de Silva; Tiong Yang Tan; Susan M. White; John Christodoulou; Ilias Goranitis
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NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin TreatmentNAXD缺乏症:异质性表型及烟酸治疗的积极反应
err2026-08-20
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errOAAI
errNajmesadat Seyedkatouli; Liana N. Semcesen; Lucia Gallucci; Tim Sikora; Jean-François Conrotte; Mei R. M. Du; Marat Kasakin; Gezime Seferi; Licia Corona; Martin Jakubec; Brunda Nijagal; Sajel Lala; Rebecca D. Ganetzky; Ana Maria Rodriguez Barreto; Marina Szlago; Melanie Wong; Margit Shah; James Nurse; Nicola Foulds; Shankar Sadagopan; Ha Nguyen Thu; Dung Vu Chi; Khanh Nguyen Ngoc; Michelle G. de Silva; Mirana Ramialison; Fernando Rossello; MitoMDT Diagnostic Network for Genomics and Omics; David R. Thorburn; Matthew Lynch; Pauline McGrath; David A. Stroud; John Christodoulou; Carole L. Linster; Nicole J. Van Bergen
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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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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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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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Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
err2025-12-18
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errOAAI
errBen Lundie; Sze Yee Chai; Alicia B. Byrne; Dimitar Azmanov; John Christodoulou; Matilda A. Haas; Karin S. Kassahn; Sebastian Lunke; Ami Stott; Bryony A. Thompson; Tony Badrick; Bruce Bennetts
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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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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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Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel SyndromeSimpson-golabi-behmel综合征中新型GPC3错义变体的功能表征
err2025-10-01
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PREAI
errZhao, Teresa; Allan, Kirsten; Taylor, Juliet; Thorburn, David R.; White, Susan M.; Tan, Tiong Y.; Christodoulou, John; Tan, Natalie B.; Stroud, David A.
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An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsiPSC来源的神经元模型揭示了锰在神经元内吞作用、钙离子流和线粒体生物能量学中的作用
err2025-08-06
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errDimitri Budinger; Sharmin Alhaque; Ramón González-Méndez; Chris Dadswell; Katy Barwick; Arianna Ferrini; Charlotte Roth; Conor J. McCann; Karin Tuschl; Fatma Al Jasmi; Maha S. Zaki; Julien H. Park; Russell C. Dale; Shekeeb Mohammad; John Christodoulou; Dale Moulding; Michael R. Duchen; Serena Barral; Manju A. Kurian
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Therapies for Mitochondrial Disease: Past, Present, and Future线粒体疾病的治疗:过去、现在与未来
err2025-07-25
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errOAAI
errMegan Ball; Nicole J. van Bergen; Alison G. Compton; David R. Thorburn; Shamima Rahman; John Christodoulou
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CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic SpectrumCHD8 变异和雷特综合征:重叠表型、分子汇聚与扩大遗传谱系
err2025-06-02
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errElaine Zhang; Teresa Zhao; Tim Sikora; Carolyn Ellaway; Wendy A. Gold; Nicole J. Van Bergen; David A. Stroud; John Christodoulou; Simranpreet Kaur
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Understanding speech and language in KIF1A-associated neurological disorder理解KIF1A相关神经障碍中的言语和语言
err2025-05-16
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errMorison, Lottie D.; Vogel, Adam P.; Christodoulou, John; Gold, Wendy A.; Verden, Dylan; Chung, Wendy K.; Braden, Ruth; Bredebusch, Joanna; Kaur, Simranpreet; Scheffer, Ingrid E.; Morgan, Angela T.
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Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation通过IGV解读,揭示先前难以解释的Rett综合征病例中的MECP2结构变异
err2025-03-13
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errPoleg, Tomer; Hadar, Noam; Heimer, Gali; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan M.; Freund, Ofek; Kaur, Simran; Christodoulou, John; Ben-Zeev, Bruria
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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
err2025-03-01
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PREAI
errElvidge, Kristina L.; Farrar, Michelle A.; Christodoulou, John; Kava, Maina P.; Johnson, Alexandra M.; Patterson, Marc C.; Jones, Simon A.; Zuberi, Sameer; Wilmshurst, Jo M.; Smith, Nicholas J. C.
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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
err2025-01-01
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PREAI
errBall, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John
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A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
err2024-11-29
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errGonzalez, Francisco Santos; Hock, Daniella H.; Thorburn, David R.; Mordaunt, Dylan; Williamson, Nicholas A.; Ang, Ching-Seng; Stroud, David A.; Christodoulou, John; Goranitis, Ilias
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Novel CDKL5 targets identified in human iPSC-derived neurons (vol 81, 347, 2024)
err2024-09-10
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errMassey, Sean; Ang, Ching-Seng; Davidson, Nadia M.; Quigley, Anita; Rollo, Ben; Harris, Alexander R.; Kapsa, Robert M. I.; Christodoulou, John; Van Bergen, Nicole J.
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Novel CDKL5 targets identified in human iPSC-derived neurons
err2024-08-13
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errMassey, Sean; Ang, Ching-Seng; Davidson, Nadia M.; Quigley, Anita; Rollo, Ben; Harris, Alexander R.; Kapsa, Robert M. I.; Christodoulou, John; Van Bergen, Nicole J.
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