arrow
Back
J

John Christodoulou

Royal Children's Hospital

77H-index
537Paper Count
2.7WCitation Count
Published Papers 211
Publication Date
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
err2026-08-20
err0
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
errShare
errSave
Automated reanalysis of genomic data for rare disease diagnostics at scale
err2026-06-24
err0
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
errShare
errSave
Mainstreaming genomic testing for mitochondrial disease in Australia
err2026-02-26
err0
errOAAI
errMegan Ball; Naomi Baker; Sze Chern Lim; Sarah Casauria; Sebastian Lunke; Alison G. Compton; David R. Thorburn; John Christodoulou; Zornitza Stark
errShare
errSave
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
err2025-12-18
err0
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
errShare
errSave
KIF1A-associated neurological disorders: therapeutic opportunities and challenges
err2025-11-27
err0
errOAAI
errQing Lin; Dylan Verden; John Christodoulou; Wendy A. Gold; Simranpreet Kaur
errShare
errSave
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
err0
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
errShare
errSave
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
err2025-10-09
err0
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
errShare
errSave
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
err2025-10-01
err0
PREAI
errZhao, Teresa; Allan, Kirsten; Taylor, Juliet; Thorburn, David R.; White, Susan M.; Tan, Tiong Y.; Christodoulou, John; Tan, Natalie B.; Stroud, David A.
errShare
errSave
An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
err2025-08-06
err0
errOAAI
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
errShare
errSave
Therapies for Mitochondrial Disease: Past, Present, and Future
err2025-07-25
err0
errOAAI
errMegan Ball; Nicole J. van Bergen; Alison G. Compton; David R. Thorburn; Shamima Rahman; John Christodoulou
errShare
errSave
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
err2025-06-02
err0
errOAAI
errElaine Zhang; Teresa Zhao; Tim Sikora; Carolyn Ellaway; Wendy A. Gold; Nicole J. Van Bergen; David A. Stroud; John Christodoulou; Simranpreet Kaur
errShare
errSave
Understanding speech and language in KIF1A-associated neurological disorder
err2025-05-16
err0
errOAAI
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.
errShare
errSave
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
err2025-03-13
err0
errOAAI
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
errShare
errSave
Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
err2025-03-01
err0
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.
errShare
errSave
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
err2025-01-01
err0
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
errShare
errSave
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
err1
errOAAI
errGonzalez, Francisco Santos; Hock, Daniella H.; Thorburn, David R.; Mordaunt, Dylan; Williamson, Nicholas A.; Ang, Ching-Seng; Stroud, David A.; Christodoulou, John; Goranitis, Ilias
errShare
errSave
Novel CDKL5 targets identified in human iPSC-derived neurons (vol 81, 347, 2024)
err2024-09-10
err0
errOAAI
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.
errShare
errSave
Novel CDKL5 targets identified in human iPSC-derived neurons
err2024-08-13
err0
errOAAI
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.
errShare
errSave
Bayesian reweighting of biomolecular structural ensembles using heterogeneous cryo-EM maps with the cryoENsemble method
err2024-08-05
err1
errOAAI
errWlodarski, Tomasz; Streit, Julian O.; Mitropoulou, Alkistis; Cabrita, Lisa D.; Vendruscolo, Michele; Christodoulou, John
errShare
errSave
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
err2024-08-02
err1
errOAAI
errWallis, Mathew; Bodek, Simon D.; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F.; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y.; John, Tom; Mullen, Saul; White, Susan M.; Brown, Natasha J.; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S.; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F.
errShare
errSave