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Claudio Toma

As seen in: Nature, Frontiers
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Articles by Claudio Toma

Family-based RNA sequencing in bipolar disorder points to novel candidate genes and dysregulated pathways

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By Ines Garcia-Ortiz, Tomás Kavanagh, Lee Marshall, José J. Lucas, Diego Romero-Miguel, Peter R. Schofield, Philip Mitchell, Antony Cooper, Janice M. Fullerton, Claudio Toma, Miriam Martínez-Jiménez
| Nature Verified
Abstract Genetic risk variants in bipolar disorder (BD) may lead to substantial gene expression changes. Transcriptomic studies employing multiplex BD families are extremely scarce. Here, we performed RNAseq on total mRNA of 31 lymphoblastoid cell lines from a cohort of eight multiplex BD families. We conducted differential gene expression and Weighted Gene Co-expression Network Analysis (WGCNA) for candidate genes and pathways identification.
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Frontiers | Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome

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By Claudio Toma, Jose E. Garcia-Ortiz, Konstantinos Kollios
| Frontiers
Introduction Lesch–Nyhan syndrome (LNS; OMIM: 300322) is a rare neurogenetic disorder of purine metabolism caused by complete or severe deficiency of the enzyme HPRT1 (Seegmiller et al., 1967). The disease is transmitted in the X-linked recessive mode of inheritance and encountered in different populations including Arabs (Shaltiel et al., 1981; Torres and Puig, 2007; de Gemmis et al., 2010; Yamada et al., 2014; Nguyen et al., 2017; Cho et al., 2019; Li et al., 2022).
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Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

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By Neuroscience Research Australia, Claudio Toma, Anna Heath
| BioRxiv
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders. Claudio Toma, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Philip B. Mitchell, Peter R. Schofield, Janice M. Fullerton bioRxiv 363846; doi: https://doi.org/10.1101/363846
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