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
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
Silvia Paracchini,Ankur M Thomas,Sandra Castro,Cecilia Lai,Murugan Paramasivam,Yu Wang,Brendan J. Keating,Jennifer M. Taylor,Douglas F. Hacking,Thomas S. Scerri,Clyde Francks,Alex J. Richardson,Richard Wade-Martins,John F. Stein,Julian C. Knight,Andrew J. Copp,Joseph J. LoTurco,Anthony P. Monaco +17 more
TL;DR: The data suggest a direct link between a specific genetic background and a biological mechanism leading to the development of dyslexia: the risk haplotype on chromosome 6p22.2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex.
Journal ArticleDOI
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
Clyde Francks,Silvia Paracchini,Shelley D. Smith,Alex J. Richardson,Thomas S. Scerri,Lon R. Cardon,Angela J. Marlow,I. Laurence MacPhie,J. Walter,Bruce F. Pennington,Simon E. Fisher,Richard K. Olson,John C. DeFries,John F. Stein,Anthony P. Monaco +14 more
TL;DR: The association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319, which has no significant impact on general cognitive performance in these samples.
Journal ArticleDOI
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
Dianne F. Newbury,Silvia Paracchini,Thomas S. Scerri,Laura Winchester,Laura Addis,Alex J. Richardson,J. Walter,John F. Stein,Joel B. Talcott,Anthony P. Monaco +9 more
TL;DR: The role of variants in these genes (namely MRPL19/C20RF3,ROBO1,DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia is investigated.
Journal ArticleDOI
Genetics of developmental dyslexia
TL;DR: In this paper, the authors have identified numerous loci throughout the genome that are likely to harbour candidate dyslexia susceptibility genes, which is a highly heritable disorder with a prevalence of at least 5% in school-aged children.
Journal ArticleDOI
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
Manfred Fliegauf,Vanessa L. Bryant,Vanessa L. Bryant,Natalie Frede,Charlotte A. Slade,Charlotte A. Slade,Charlotte A. Slade,See-Tarn Woon,Klaus Lehnert,Sandra Winzer,Alla Bulashevska,Thomas S. Scerri,Thomas S. Scerri,Euphemia Leung,Anthony Jordan,Baerbel Keller,Esther de Vries,Hongzhi Cao,Fang Yang,Alejandro A. Schäffer,Klaus Warnatz,Peter Browett,Jo A Douglass,Jo A Douglass,Jo A Douglass,Rohan Ameratunga,Jos W. M. van der Meer,Bodo Grimbacher,Bodo Grimbacher +28 more
TL;DR: The CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency, with a Dutch-Australian CVID-affected family identified a NFKB1 heterozygous splice-donor-site mutation, causing in-frame skipping of exon 8.