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Bio
He is the founding head of the Neurogenetics Research Program located at the Medical School, the University of Adelaide. The broad research aim of his group is to further understanding of brain function through the identification and characterisation of genes with naturally occurring mutations in patients with intellectual disability, autism, some, primarily monogenic, forms of epilepsy and cerebral palsy. His team discovered or contributed to the discovery of more than 250 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, RLIM or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain development and function (e.g. non-sense mediated mRNA decay, NMD or transcription mRNA export, TREX). The current focus of his research is in the functional interpretation of genetic variation, coding and non-coding, identified with next generation genomic technologies, using various cell and molecular biology tools, including patient cell (including stem cell) and mouse models.
Research Interests
Papers共 479 篇Author StatisticsCo-AuthorSimilar Experts
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Hamish S. Scott, Ebony Matotek,Tessa Mattiske, Robert J. Bryson-Richardson,Ian Smyth,Jozef Gecz,John Christodoulou,Nathan Palpant,Kelly Smith, Coral Warr,Bruce Bennetts,Paul Thomas,
Bart van der Sanden,Kornelia Neveling, Syukri Shukor, Michael D Gallagher,Joyce Lee, Stephanie L Burke,Maartje Pennings,Ronald van Beek,Michiel Oorsprong,Ellen Kater-Baats,Eveline Kamping, Alide Tieleman,
crossref(2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 494-494
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Violetta Karwacki-Neisius,Ahram Jang,Engin Cukuroglu,Albert Tai,Alan Jiao,Danilo Predes, Joon Yoon,Emily Brookes,Jiekai Chen, Aimee Iberg,Florian Halbritter,Katrin Õunap,
Natureno. 8004 (2024): 594-603
Translational Psychiatryno. 1 (2024): 1-9
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don,George McGillivray,Tae-Ik Choi, Carolyn A Allan,David J Amor,Siddharth Banka,Donald G Basel, Laura D Buch,Deanna Alexis Carere,Renée Carroll,
Joseph Sullivan,Boudewijn Gunning,Muhammad Zafar, Renzo Guerrini,Jozef Gecz,Kristy L. Kolc, Yufan Zhao,Maciej Gasior,Alex A. Aimetti,Debopam Samanta
Jozef Gecz, Emmylou Nicolas, Mark Corbett, Tarin Ritchie,Ingrid Scheffer, Samuel Berkovic,Michael Hildebrand,John Grigg,Sandra Cooper,Christian Pflueger,Ryan Lister,Lachlan Jolly
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 82-83
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JOURNAL OF CLINICAL INVESTIGATIONno. 1 (2024)
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