T
Thomas S. Scerri
Researcher at Walter and Eliza Hall Institute of Medical Research
Publications - 45
Citations - 3888
Thomas S. Scerri is an academic researcher from Walter and Eliza Hall Institute of Medical Research. The author has contributed to research in topics: Dyslexia & DCDC2. The author has an hindex of 28, co-authored 45 publications receiving 3324 citations. Previous affiliations of Thomas S. Scerri include University of Melbourne & Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
Thomas S. Scerri,Jessica R. Riseley,Greta Gillies,Kate Pope,Rosemary Burgess,Rosemary Burgess,Simone Mandelstam,Simone Mandelstam,Simone Mandelstam,Leanne M. Dibbens,Chung Wo Chow,Chung Wo Chow,William Maixner,AS Harvey,Graeme D. Jackson,Graeme D. Jackson,David J. Amor,Martin B. Delatycki,Peter B. Crino,Samuel F. Berkovic,Samuel F. Berkovic,Ingrid E. Scheffer,Melanie Bahlo,Paul J. Lockhart,Richard J. Leventer,Richard J. Leventer +25 more
TL;DR: The histopathological features of cortical dysplasia associated with a DEPDC5 mutation are shown, mTOR dysregulation in the malformed tissue is confirmed and the spectrum of neurological manifestations of DEPDD5 mutations is expanded to include severe phenotypes with large areas of cortical malformation.
Journal ArticleDOI
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
Alessandro Gialluisi,Till F. M. Andlauer,Nazanin Mirza-Schreiber,Kristina Moll,Jessica Becker,Per Hoffmann,Kerstin U. Ludwig,Darina Czamara,Beate St Pourcain,William M. Brandler,Ferenc Honbolygó,Dénes Tóth,Valéria Csépe,Guillaume Huguet,Guillaume Huguet,Andrew P. Morris,Jacqueline Hulslander,Erik G. Willcutt,John C. DeFries,Richard K. Olson,Shelley D. Smith,Bruce F. Pennington,Anniek Vaessen,Urs Maurer,Heikki Lyytinen,Myriam Peyrard-Janvid,Paavo H.T. Leppänen,Daniel Brandeis,Daniel Brandeis,Milene Bonte,John F. Stein,Joel B. Talcott,Fabien Fauchereau,Fabien Fauchereau,Arndt Wilcke,Clyde Francks,Clyde Francks,Thomas Bourgeron,Thomas Bourgeron,Anthony P. Monaco,Anthony P. Monaco,Franck Ramus,Karin Landerl,Juha Kere,Juha Kere,Thomas S. Scerri,Silvia Paracchini,Simon E. Fisher,Simon E. Fisher,Johannes Schumacher,Markus M. Nöthen,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Gerd Schulte-Körne +53 more
TL;DR: A genome-wide association study of reading-impaired and typically developing children of European ancestry and polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD.
Journal ArticleDOI
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
Jessica Becker,Darina Czamara,Thomas S. Scerri,Thomas S. Scerri,Franck Ramus,Valéria Csépe,Joel B. Talcott,John F. Stein,Andrew P. Morris,Kerstin U. Ludwig,Per Hoffmann,Per Hoffmann,Ferenc Honbolygó,Dénes Tóth,Fabien Fauchereau,Fabien Fauchereau,Caroline Bogliotti,Stéphanie Iannuzzi,Yves Chaix,Sylviane Valdois,Catherine Billard,Florence George,Isabelle Soares-Boucaud,Christophe Loïc Gérard,Sanne van der Mark,Enrico Schulz,Anniek Vaessen,Urs Maurer,Kaisa Lohvansuu,Heikki Lyytinen,Marco Zucchelli,Daniel Brandeis,Leo Blomert,Paavo H.T. Leppänen,Jennifer Bruder,Anthony P. Monaco,Bertram Müller-Myhsok,Juha Kere,Juha Kere,Karin Landerl,Markus M. Nöthen,Gerd Schulte-Körne,Silvia Paracchini,Silvia Paracchini,Myriam Peyrard-Janvid,Johannes Schumacher +45 more
TL;DR: The authors performed both case-control and quantitative association analyses of single markers and haplotypes previously reported to be dyslexia-associated and found no marker or haplotype that was significantly associated with either case control status or quantitative measurements of word-reading or spelling in the NeuroDys cohort.
Journal ArticleDOI
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
Joanne M Hildebrand,Joanne M Hildebrand,Maria Kauppi,Maria Kauppi,Ian J. Majewski,Ian J. Majewski,Zikou Liu,Zikou Liu,Allison Cox,Sanae Miyake,Emma J. Petrie,Emma J. Petrie,Michael A. Silk,Michael A. Silk,Zhixiu Li,Maria C. Tanzer,Maria C. Tanzer,Maria C. Tanzer,Gabriela Brumatti,Gabriela Brumatti,Samuel N. Young,Samuel N. Young,Cathrine Hall,Cathrine Hall,Sarah E Garnish,Sarah E Garnish,Jason Corbin,Jason Corbin,Michael D. Stutz,Michael D. Stutz,Michael D. Stutz,Ladina Di Rago,Ladina Di Rago,Pradnya Gangatirkar,Pradnya Gangatirkar,Emma C. Josefsson,Emma C. Josefsson,Kristin A Rigbye,Kristin A Rigbye,Holly Anderton,Holly Anderton,James A Rickard,James A Rickard,James A Rickard,Anne Tripaydonis,Anne Tripaydonis,Anne Tripaydonis,Julie Sheridan,Julie Sheridan,Thomas S. Scerri,Thomas S. Scerri,Victoria E. Jackson,Victoria E. Jackson,Peter E. Czabotar,Peter E. Czabotar,Jian-Guo Zhang,Jian-Guo Zhang,Leila N. Varghese,Leila N. Varghese,Leila N. Varghese,Cody C. Allison,Cody C. Allison,Marc Pellegrini,Marc Pellegrini,Gillian M. Tannahill,Gillian M. Tannahill,Esme C. Hatchell,Esme C. Hatchell,Tracy A. Willson,Tracy A. Willson,Dina Stockwell,Dina Stockwell,Carolyn A. de Graaf,Carolyn A. de Graaf,Janelle E. Collinge,Janelle E. Collinge,Adrienne A. Hilton,Natasha Silke,Natasha Silke,Sukhdeep K Spall,Sukhdeep K Spall,Diep Chau,Diep Chau,Diep Chau,Vicki Athanasopoulos,Vicki Athanasopoulos,Donald Metcalf,Donald Metcalf,Ronald M. Laxer,Alexander G. Bassuk,Benjamin W. Darbro,Maria A. Fiatarone Singh,Nicole Vlahovich,David Hughes,Maria Kozlovskaia,Maria Kozlovskaia,David B. Ascher,David B. Ascher,Klaus Warnatz,Nils Venhoff,Jens Thiel,Christine Biben,Christine Biben,Stefan Blum,John Reveille,Michael S. Hildebrand,Michael S. Hildebrand,Carola G. Vinuesa,Carola G. Vinuesa,Pamela A. McCombe,Matthew A. Brown,Matthew A. Brown,Benjamin T. Kile,Benjamin T. Kile,Benjamin T. Kile,Catriona McLean,Melanie Bahlo,Melanie Bahlo,Seth L. Masters,Seth L. Masters,Hiroyasu Nakano,Polly J. Ferguson,James M. Murphy,James M. Murphy,Warren S. Alexander,Warren S. Alexander,John Silke,John Silke +127 more
TL;DR: A mutation in the brace region that confers constitutive activation, leading to lethal inflammation in homozygous mutant mice and providing insight into human mutations in this region is identified.
Journal ArticleDOI
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
Richard J. Leventer,Thomas S. Scerri,Ashley P L Marsh,Kate Pope,Greta Gillies,William Maixner,Duncan MacGregor,Simon Harvey,Simon Harvey,Martin B. Delatycki,David J. Amor,David J. Amor,Peter B. Crino,Melanie Bahlo,Melanie Bahlo,Paul J. Lockhart,Paul J. Lockhart +16 more
TL;DR: Somatic-specific mutations in MTOR and related genes should be considered in a broader spectrum of patients with hemispheric malformations and more restricted forms of cortical dysplasia.