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Novel CDKL5 targets identified in human iPSC-derived neurons (vol 81, 347, 2024) Massey, Sean; Ang, Ching-Seng; Davidson, Nadia M.; Quigley, Anita; Rollo, Ben; Harris, Alexander R.; Kapsa, Robert M. I.; Christodoulou, John; Van Bergen, Nicole J. Share Save
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Integrated multi-omics for rapid rare disease diagnosis on a national scale Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza Share Save
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia Massey, Sean; Guo, Yiran; Riley, Lisa G.; Van Bergen, Nicole J.; Sandaradura, Sarah A.; McCusker, Elizabeth; Tchan, Michel; Thauvin-Robinet, Christel; Thomas, Quentin; Moreau, Thibault; Davis, Mark; Smits, Daphne; Mancini, Grazia M. S.; Hakonarson, Hakon; Cooper, Sandra; Christodoulou, John Share Save
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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans Van Bergen, Nicole J.; Bell, Katrina M.; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K.; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J.; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, Mcri Rare Diseases; Wickramasinghe, Vihandha O.; White, Susan M.; Christodoulou, John Share Save
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder Van Bergen, Nicole J.; Massey, Sean; Stait, Tegan; Ellery, Molly; Reljic, Boris; Formosa, Luke E.; Quigley, Anita; Dottori, Mirella; Thorburn, David; Stroud, David A.; Christodoulou, John Share Save
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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) Kaur, Simranpreet; Van Bergen, Nicole J.; Ben-Zeev, Bruria; Leonardi, Emanuela; Tan, Tiong Y.; Coman, David; Kamien, Benjamin; White, Susan M.; St John, Miya; Phelan, Dean; Rigbye, Kristin; Lim, Sze Chern; Torres, Michelle C.; Marty, Melanie; Savva, Elena; Zhao, Teresa; Massey, Sean; Murgia, Alessandra; Gold, Wendy A.; Christodoulou, John Share Save
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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) Kaur, Simranpreet; Van Bergen, Nicole J.; Verhey, Kristen J.; Nowell, Cameron J.; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J.; Massey, Sean; Sonawane, Rhea; Burton, Matthew D.; Schonewolf-Greulich, Bitten; Tumer, Zeynep; Chung, Wendy K.; Gold, Wendy A.; Christodoulou, John Share Save
Mutations in the exocyst component EXOC2 cause severe defects in human brain development Van Bergen, Nicole J.; Ahmed, Syed Mukhtar; Collins, Felicity; Cowley, Mark; Vetro, Annalisa; Dale, Russell C.; Hock, Daniella H.; de Caestecker, Christian; Menezes, Minal; Massey, Sean; Ho, Gladys; Pisano, Tiziana; Glover, Seana; Gusman, Jovanka; Stroud, David A.; Dinger, Marcel; Guerrini, Renzo; Macara, Ian G.; Christodoulou, John Share Save
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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants Rius, Rocio; Van Bergen, Nicole J.; Compton, Alison G.; Riley, Lisa G.; Kava, Maina P.; Balasubramaniam, Shanti; Amor, David J.; Fanjul-Fernandez, Miriam; Cowley, Mark J.; Fahey, Michael C.; Koenig, Mary K.; Enns, Gregory M.; Sadedin, Simon; Wilson, Meredith J.; Tan, Tiong Y.; Thorburn, David R.; Christodoulou, John Share Save
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child Rius, Rocio; Riley, Lisa G.; Guo, Yiran; Menezes, Minal; Compton, Alison G.; Van Bergen, Nicole J.; Gayevskiy, Velimir; Cowley, Mark J.; Cummings, Beryl B.; Adams, Louisa; Ellaway, Carolyn; Thorburn, David R.; Hakonarson, Hakon; Christodoulou, John Share Save
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses Van Bergen, Nicole J.; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S.; Pyle, Angela; Conrotte, Jean-Francois; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Julia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P.; Shukla, Anju; Girisha, Katta M.; Lewis, Leslie E. S.; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovacs-Nagy, Reka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R.; Prokisch, Holger; Taylor, Robert W.; Christodoulou, John; Linster, Carole L.; Ellard, Sian; Hakonarson, Hakon Share Save
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