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Michael S. Hildebrand

university of melbourne

52H-index
301Paper Count
9.3KCitation Count
Published Papers 112
Publication Date
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
err2026-03-30
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errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Childhood motor speech disorders: who to prioritise for genetic testing
err2026-01-13
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errHalianna Van Niel; Mariana Lauretta; Emma Baker; Lorraine O’Donnell; Charlotte Boulton; Celia Brenchley; David Coman; Evyenia Michellis; Himanshu Goel; Geoff Thompson; Richard Webster; Georgia Paxton; Zornitza Stark; Ingrid E. Scheffer; Michael S. Hildebrand; David J. Amor; Angela T. Morgan
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
err2025-10-10
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errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
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Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
err2025-05-22
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errSikta, Neblina; Gooley, Samuel; Green, Timothy E.; Hoeper, Olivia; Witkowski, Tom; Bennett, Caitlin; Francis, David; Reid, Joshua; Mao, Kevin; Awad, Mohammed; Roberts-Thomson, Samuel; Bulluss, Kristian; Clark, Jonathan; Scheffer, Ingrid E.; Perucca, Piero; Bennett, Mark F.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.
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Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data
err2025-04-04
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PREAI
errRobertson, Erandee; Grinton, Bronwyn E.; Oliver, Karen L.; Fearnley, Liam G.; Hildebrand, Michael S.; Sadleir, Lynette G.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Bennett, Mark F.
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Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy
err2025-01-01
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errBennett, Mark F.; Corbett, Mark A.; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L.; Cameron, Jillian M.; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G.; Ibanez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F.; Bahlo, Melanie
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Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects
err2025-01-01
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PREAI
errWang, Yanyan; Kraemer, Nadine; Schneider, Joanna; Ninnemann, Olaf; Weng, Kai; Hildebrand, Michael; Reid, Joshua; Li, Na; Hu, Hao; Mani, Shyamala; Kaindl, Angela M.
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Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder
err2024-10-01
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errHildebrand, Michael S.; Braden, Ruth O.; Lauretta, Mariana L.; Kaspi, Antony; Leventer, Richard J.; Anderson, Melinda; Goel, Himanshu; Bahlo, Melanie; Scheffer, Ingrid E.; Amor, David J.; Janowski, Robert; Niessing, Dierk; Morgan, Angela T.
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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
err2024-08-02
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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.
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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)
err2024-08-02
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errViswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E.
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RNA variant assessment using transactivation and transdifferentiation
err2024-08-01
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errNicolas-Martinez, Emmylou C.; Robinson, Olivia; Pflueger, Christian; Gardner, Alison; Corbett, Mark A.; Ritchie, Tarin; Kroes, Thessa; van Eyk, Clare L.; Scheffer, Ingrid E.; Hildebrand, Michael S.; Barnier, Jean-Vianney; Rousseau, Veronique; Genevieve, David; Haushalter, Virginie; Piton, Amelie; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; PERSYST Investigator Team, Kristi J.; Cooper, Sandra T.; Lister, Ryan; Gecz, Jozef; Jolly, Lachlan A.
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SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
err2024-06-07
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errYoung, Emma; Harris, Rebekah; Lieffering, Nico; de Valles-Ibanez, Guillem; Nyaga, Denis; Bennett, Mark F.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Sadleir, Lynette G.
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Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants
err2024-04-01
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errThompson-Lake, Daisy G. Y.; Liegeois, Frederique J.; Braden, Ruth O.; Jackson, Graeme D.; Turner, Samantha J.; Morison, Lottie; Hildebrand, Michael; Scheffer, Ingrid E.; Morgan, Angela T.
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Genetic architecture of childhood speech disorder: a review
err2024-02-16
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errMorgan, Angela T.; Amor, David J.; St John, Miya D.; Scheffer, Ingrid. E.; Hildebrand, Michael S.
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Genotype and phenotype correlation of PHACTR1-related neurological disorders
err2024-01-25
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PREAI
errXu, Zhao; Sadleir, Lynette; Goel, Himanshu; Jiao, Xianru; Niu, Yue; Zhou, Zongpu; de Valles-Ibanez, Guillem; Poke, Gemma; Hildebrand, Michael; Lieffering, Nico; Qin, Jiong; Yang, Zhixian
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Somatic mosaicism in focal epilepsies
err2024-01-18
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PREAI
errGooley, Samuel; Perucca, Piero; Tubb, Caitlin; Hildebrand, Michael S.; Berkovic, Samuel F.
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Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis
err2024-01-01
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errYe, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Liao, Jianxiang; Hildebrand, Michael S.
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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
errBRAIN
IF11.7
err2023-11-18
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errMorgan, Angela T.; Scerri, Thomas S.; Vogel, Adam P.; Reid, Christopher A.; Quach, Mara; Jackson, Victoria E.; McKenzie, Chaseley; Burrows, Emma L.; Bennett, Mark F.; Turner, Samantha J.; Reilly, Sheena; Horton, Sarah E.; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A.; Featherby, Travis J.; Richards, Kay L.; Kueh, Andrew; Herold, Marco J.; Corbett, Mark A.; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G. Y.; Liegeois, Frederique J.; Morell, Robert J.; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E.; Wright, David K.; Bahlo, Melanie; Hildebrand, Michael S.
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Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
err2023-09-01
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errGreen, Timothy E.; Fujita, Atsushi; Ghaderi, Navid; Heinzen, Erin L.; Matsumoto, Naomichi; Klein, Karl Martin; Berkovic, Samuel F.; Hildebrand, Michael S.
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Recognition and epileptology of protracted CLN3 disease
err2023-04-27
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errCameron, Jillian M.; Damiano, John A.; Grinton, Bronwyn; Carney, Patrick W.; McKelvie, Penny; Silbert, Peter; Lawn, Nicholas; Scheffer, Ingrid E.; Oliver, Karen L.; Hildebrand, Michael S.; Berkovic, Samuel F.
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