Obserwuj
Claudio Toma
Claudio Toma
Científico Titular CSIC - CBM Severo Ochoa - Neuroscience Research Australia - UNSW Sydney
Zweryfikowany adres z cbm.csic.es - Strona główna
Tytuł
Cytowane przez
Cytowane przez
Rok
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
16482007
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
11362021
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
2312018
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
1982022
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
1672010
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
1242014
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
1112009
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
952013
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
932013
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
842007
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
752009
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
742011
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
612008
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
612007
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
602010
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
C Sintas, O Carreño, N Fernàndez-Castillo, R Corominas, M Vila-Pueyo, ...
Scientific reports 7 (1), 2514, 2017
562017
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
562013
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
562006
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
532017
Traumatic stress interacts with bipolar disorder genetic risk to increase risk for suicide attempts
HC Wilcox, JM Fullerton, AL Glowinski, K Benke, M Kamali, ...
Journal of the American Academy of Child & Adolescent Psychiatry 56 (12 …, 2017
502017
Nie można teraz wykonać tej operacji. Spróbuj ponownie później.
Prace 1–20