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 Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3
Joe Chou Hung Sim,Thomas S. Scerri,Thomas S. Scerri,Miriam Fanjul-Fernández,Jessica R. Riseley,Greta Gillies,Kate Pope,Hanna van Roozendaal,Julian Ik-Tsen Heng,Simone Mandelstam,Simone Mandelstam,George McGillivray,Duncan MacGregor,Lakshminarayanan Kannan,William Maixner,Simon Harvey,Simon Harvey,David J. Amor,Martin B. Delatycki,Peter B. Crino,Melanie Bahlo,Melanie Bahlo,Paul J. Lockhart,Richard J. Leventer,Richard J. Leventer +24 more
TL;DR: Linkage analysis and whole‐exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permease regulator‐like 3 (NPRL3), a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling pathway.
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Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK.
Thomas S. Scerri,Simon E. Fisher,Clyde Francks,I L MacPhie,Silvia Paracchini,Anthony J. Richardson,John F. Stein,Anthony P. Monaco +7 more
TL;DR: Investigation of DYX1C1 in individuals from 20 additional Finnish families with multiple cases of dyslexia led to the identification of eight single nucleotide polymorphisms (SNPs), two of which were found to associate with Dyslexia in these families, and in additional Finnish affected cases and controls.
Journal ArticleDOI
A common variant associated with dyslexia reduces expression of the KIAA0319 gene
Megan Y. Dennis,Silvia Paracchini,Thomas S. Scerri,Ludmila Prokunina-Olsson,Julian C. Knight,Richard Wade-Martins,Penny Coggill,Stephan Beck,Eric D. Green,Anthony P. Monaco +9 more
TL;DR: This study pinpoints a common variant as altering the function of a dyslexia candidate gene and provides an illustrative example of the strategic approach needed to dissect the molecular basis of complex genetic traits.
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Genome‐wide screening for DNA variants associated with reading and language traits
Alessandro Gialluisi,Dianne F. Newbury,Erik G. Wilcutt,Richard K. Olson,John C. DeFries,William M. Brandler,William M. Brandler,Bruce F. Pennington,Shelley D. Smith,Thomas S. Scerri,Nuala H. Simpson,Michelle Luciano,David M. Evans,David M. Evans,Timothy C. Bates,Timothy C. Bates,John F. Stein,Joel B. Talcott,Anthony P. Monaco,Anthony P. Monaco,Silvia Paracchini,Clyde Francks,Simon E. Fisher +22 more
TL;DR: This article performed a genome-wide association scan (GWAS) meta-analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings, and identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P≈10 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes.
Journal ArticleDOI
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Thomas S. Scerri,Anna Quaglieri,Anna Quaglieri,Carolyn Cai,Jana Zernant,Nori Matsunami,Lisa Baird,Lea Scheppke,Roberto Bonelli,Roberto Bonelli,Lawrence A. Yannuzzi,Martin Friedlander,Catherine A Egan,Marcus Fruttiger,Mark Leppert,Rando Allikmets,Melanie Bahlo,Melanie Bahlo +17 more
TL;DR: A genome-wide association study with 476 cases and 1,733 controls of European ancestry identified genetic susceptibility loci for MacTel and found significant differences in blood serum levels of glycine and serine between MacTel cases and controls.