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Claudio Toma
Claudio Toma
Ramón y Cajal fellow - Centre for Molecular Biology Severo Ochoa & Neuroscience Research Australia
Verified email at cbm.csic.es - Homepage
Title
Cited by
Cited by
Year
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
16502007
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
N Mullins, AJ Forstner, KS O’Connell, B Coombes, JRI Coleman, Z Qiao, ...
Nature genetics 53 (6), 817-829, 2021
7102021
Paternally inherited cis-regulatory structural variants are associated with autism
WM Brandler, D Antaki, M Gujral, ML Kleiber, J Whitney, MS Maile, ...
Science 360 (6386), 327-331, 2018
2002018
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility
E Maestrini, AT Pagnamenta, JA Lamb, E Bacchelli, NH Sykes, I Sousa, ...
Molecular psychiatry 15 (9), 954-968, 2010
1642010
Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders, and known risk factors
N Mullins, JE Kang, AI Campos, JRI Coleman, AC Edwards, H Galfalvy, ...
Biological psychiatry 91 (3), 313-327, 2022
1342022
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
C TOMA, B Torrico, A Hervás, R Valdés-Mas, A Tristán-Noguero, ...
Molecular psychiatry 19 (7), 784, 2014
1212014
MET and autism susceptibility: family and case–control studies
I Sousa, TG Clark, C TOMA, K Kobayashi, M Choma, R Holt, NH Sykes, ...
European Journal of Human Genetics 17 (6), 749, 2009
1062009
Analysis of two language-related genes in autism: A case–control association study of FOXP2 and CNTNAP2
C TOMA, A Hervás, B Torrico, N Balmaña, M Salgado, M Maristany, ...
Psychiatric genetics 23 (2), 82-85, 2013
892013
Chiari malformation type I: a case-control association study of 58 developmental genes
A Urbizu, C TOMA, MA Poca, J Sahuquillo, E Cuenca-Leon, B Cormand, ...
PLoS One 8 (2), e57241, 2013
852013
The dyslexia-associated gene KIAA0319 encodes highly N-and O-glycosylated plasma membrane and secreted isoforms
A Velayos-Baeza, C TOMA, S Paracchini, AP Monaco
Human molecular genetics 17 (6), 859-871, 2007
832007
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
NH Sykes, C TOMA, N Wilson, EV Volpi, I Sousa, AT Pagnamenta, ...
European Journal of Human Genetics 17 (10), 1347, 2009
772009
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
B Pérez-Duenas, A Ormazábal, C TOMA, B Torrico, B Cormand, ...
Archives of neurology 68 (5), 615-621, 2011
732011
Analysis of X chromosome inactivation in autism spectrum disorders
X Gong, E Bacchelli, F Blasi, C TOMA, C Betancur, P Chaste, R Delorme, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 …, 2008
622008
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
B Pérez‐Dueñas, C TOMA, A Ormazábal, J Muchart, F Sanmartí, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010
582010
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations
C TOMA, M Rossi, I Sousa, F Blasi, E Bacchelli, R Alen, R Vanhala, ...
Molecular psychiatry 12 (11), 977, 2007
582007
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample
F Blasi, E Bacchelli, S Carone, C TOMA, AP Monaco, AJ Bailey, ...
European journal of human genetics 14 (1), 123, 2006
542006
Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC
C TOMA, A Hervás, N Balmaña, M Salgado, M Maristany, E Vilella, ...
The World Journal of Biological Psychiatry 14 (7), 516-527, 2013
502013
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism
C TOMA, A Hervás, N Balmaña, E Vilella, F Aguilera, I Cuscó, ...
Journal of psychiatric research 45 (2), 280-282, 2011
472011
Alternative splicing in the dyslexia-associated gene KIAA0319
A Velayos-Baeza, C TOMA, S Da Roza, S Paracchini, AP Monaco
Mammalian Genome 18 (9), 627-634, 2007
472007
Lack of replication of previous autism spectrum disorder GWAS hits in European populations
B Torrico, AG Chiocchetti, E Bacchelli, E Trabetti, ..., C TOMA
Autism Research 10 (2), 202-211, 2017
462017
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