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C. Toma · SciRah

Researcher profile · Semantic Scholar

C. Toma

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C. Toma — researcher profile on SciRah

h-index: 28
Works: 69
Citations: 4,515

Most-cited papers

Mapping autism risk loci using genetic linkage and chromosomal rearrangements
P. Szatmari, A. Paterson, L. Zwaigenbaum, W. Roberts +134 more
2007Nature Genetics1,396 citations Open access
Semantic Scholar
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology
N. Mullins, A. Forstner, K. O’Connell, B. Coombes +313 more
2021Nature Genetics1,030 citations Open access
Semantic Scholar
Genomics yields biological and phenotypic insights into bipolar disorder
K. O'Connell, M. Koromina, Tracey van der Veen, T. Boltz +309 more
2025Nature215 citations Open access
Semantic Scholar
Paternally inherited cis-regulatory structural variants are associated with autism
William M. Brandler, D. Antaki, M. Gujral, Morgan L. Kleiber +38 more
2018Science185 citations Open access
Semantic Scholar
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, A. Pagnamenta, J. Lamb, E. Bacchelli +20 more
2009Molecular Psychiatry141 citations Open access
Semantic Scholar
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
C. Toma, B. Torrico, A. Hervás, R. Valdés-Mas +8 more
2014Molecular Psychiatry110 citations Open access
Semantic Scholar
MET and autism susceptibility: family and case-control studies
I. Sousa, T. Clark, C. Toma, Kazuhiro Kobayashi +8 more
2008European Journal of Human Genetics89 citations Open access
Semantic Scholar
Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes
Aintzane Urbizu, C. Toma, M. Poca, J. Sahuquillo +3 more
2013PLoS ONE75 citations Open access
Semantic Scholar
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
Nuala H. Sykes, C. Toma, N. Wilson, E. Volpi +7 more
2009European Journal of Human Genetics75 citations Open access
Semantic Scholar
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
A. Velayos-Baeza, C. Toma, S. Paracchini, A. Monaco
2008Human Molecular Genetics69 citations Open access
Semantic Scholar
Analysis of two language-related genes in autism: a case–control association study of FOXP2 and CNTNAP2
C. Toma, A. Hervás, B. Torrico, Noemí Balmaña +15 more
2013Psychiatric Genetics56 citations Open access
Semantic Scholar
Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects
Belén Pérez-Dueñ, A. Ormazá, C. Toma, B. Torrico +10 more
54 citations
Semantic Scholar
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
B. Pérez-Dueñas, C. Toma, A. Ormazabal, J. Muchart +6 more
2010Journal of Inherited Metabolic Disease52 citations
Semantic Scholar
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample
Francesca Blasi, E. Bacchelli, Simona Carone, C. Toma +3 more
2006European Journal of Human Genetics52 citations Open access
Semantic Scholar
Analysis of X chromosome inactivation in autism spectrum disorders
Xiao-Hong Gong, E. Bacchelli, Francesca Blasi, C. Toma +21 more
2008American Journal of Medical Genetics Part B: Neuropsychiatric Genetics51 citations Open access
Semantic Scholar
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
C. Sintas, Oriel Carreño, N. Fernàndez-Castillo, R. Corominas +8 more
2017Scientific Reports48 citations Open access
Semantic Scholar
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.
C. Toma, A. Hervás, Noemí Balmaña, E. Vilella +8 more
2011Journal of Psychiatric Research46 citations
Semantic Scholar
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
C. Toma, Kerrie D. Pierce, Alex D. Shaw, Anna Heath +3 more
2018bioRxiv42 citations Open access
Semantic Scholar
Lack of replication of previous autism spectrum disorder GWAS hits in European populations
B. Torrico, Andreas G. Chiocchetti, E. Bacchelli, E. Trabetti +19 more
2017Autism Research41 citations Open access
Semantic Scholar
An examination of multiple classes of rare variants in extended families with bipolar disorder
C. Toma, Alex D. Shaw, R. Allcock, Anna Heath +4 more
2018Translational Psychiatry40 citations Open access
Semantic Scholar
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
B. Torrico, N. Fernàndez-Castillo, A. Hervás, M. Milà +13 more
2015European Journal of Human Genetics40 citations Open access
Semantic Scholar
Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights
N. Mullins, A. Forstner, K. O’Connell, B. Coombes +309 more
2020medRxiv38 citations Open access
Semantic Scholar
Alternative splicing in the dyslexia-associated gene KIAA0319
A. Velayos-Baeza, C. Toma, Stephanie da Roza, S. Paracchini +1 more
2007Mammalian Genome37 citations
Semantic Scholar
Common and rare variants of microRNA genes in autism spectrum disorders
C. Toma, B. Torrico, A. Hervás, M. Salgado +13 more
2015World Journal of Biological Psychiatry36 citations Open access
Semantic Scholar
Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts
H. Wilcox, J. Fullerton, A. Glowinski, K. Benke +16 more
2017Journal of the American Academy of Child and Adolescent Psychiatry35 citations Open access
Semantic Scholar
Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs).
C. Sánchez-Mora, J. Ramos-Quiroga, I. Garcia-Martínez, N. Fernàndez-Castillo +13 more
2013European Neuropsychopharmacology33 citations
Semantic Scholar
Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of LRP1 Across Psychiatric Phenotypes
B. Torrico, Alex D. Shaw, R. Mosca, Norma Vivó-Luque +7 more
2018bioRxiv30 citations Open access
Semantic Scholar
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
Oriel Carreño, R. Corominas, S. Serra, C. Sintas +12 more
2013Molecular Genetics & Genomic Medicine30 citations Open access
Semantic Scholar
Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores
J. Jamshidi, Leanne M. Williams, P. Schofield, Haeme R. P. Park +6 more
2020Genes, Brain and Behavior27 citations Open access
Semantic Scholar
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation
R. Pons, M. Serrano, A. Ormazabal, C. Toma +10 more
2010Movement Disorders26 citations Open access
Semantic Scholar
Genetic Variation across Phenotypic Severity of Autism.
C. Toma
2020Trends in Genetics25 citations Open access
Semantic Scholar
Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies
C. Sintas, Oriel Carreño, R. Corominas, S. Serra +11 more
2013The Journal of Headache and Pain24 citations Open access
Semantic Scholar
Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder.
Sophie Putt, T. Yanes, B. Meiser, R. Kaur +6 more
2020Journal of Affective Disorders22 citations Open access
Semantic Scholar
Fine-mapping genomic loci refines bipolar disorder risk genes
M. Koromina, A. Ravi, G. Panagiotaropoulou, B. Schilder +129 more
2025Nature Neuroscience21 citations Open access
Semantic Scholar
Polygenic Scores and Onset of Major Mood or Psychotic Disorders Among Offspring of Affected Parents.
A. Zwicker, J. Fullerton, N. Mullins, F. Rice +30 more
2023American Journal of Psychiatry21 citations Open access
Semantic Scholar
Pathogenic mis-splicing of CPEB4 in schizophrenia
Ivana Ollà, A. Pardiñas, A. Parras, Ivó H. Hernández +14 more
2022bioRxiv21 citations Open access
Semantic Scholar
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Laura Rodríguez‐Pascau, C. Toma, J. Macías‐Vidal, M. Cozar +5 more
2012Molecular Genetics and Metabolism19 citations
Semantic Scholar
Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses
B. Torrico, Ester Antón-Galindo, N. Fernàndez-Castillo, Eva Rojo-Francàs +17 more
2020Journal of Clinical Medicine18 citations Open access
Semantic Scholar
Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder
Sonia Hesam-Shariati, B. Overs, G. Roberts, C. Toma +12 more
2022Translational Psychiatry17 citations Open access
Semantic Scholar
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
C. Toma, Marcos Díaz-Gay, Yasmin Soares de Lima, C. Arnau-Collell +15 more
2019Clinical and Translational Gastroenterology15 citations Open access
Semantic Scholar
Rare variants analysis of neurexin-1&bgr; in autism reveals a novel start codon mutation affecting protein levels at synapses
Rafael J. Camacho-Garcia, A. Hervás, C. Toma, Noemí Balmaña +3 more
2013Psychiatric Genetics15 citations Open access
Semantic Scholar
De Novo Gene Variants and Familial Bipolar Disorder
C. Toma, Alex D. Shaw, B. Overs, P. Mitchell +3 more
2020JAMA Network Open14 citations Open access
Semantic Scholar
The involvement of serotonin polymorphisms in autistic spectrum symptomatology
A. Hervás, C. Toma, Patricia Romarís, M. Ribasés +7 more
2014Psychiatric Genetics13 citations
Semantic Scholar
Fine-mapping genomic loci refines bipolar disorder risk genes
M. Koromina, A. Ravi, G. Panagiotaropoulou, B. Schilder +129 more
2024medRxiv12 citations Open access
Semantic Scholar
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
A. Ormazabal, M. Serrano, À. García-Cazorla, J. Campistol +6 more
2011Movement Disorders12 citations
Semantic Scholar
A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits
O. Shanta, M. Klein, Molly Sacks, J. MacDonald +235 more
2025medRxiv11 citations Open access
Semantic Scholar
Cortical mediation of relationships between dopamine receptor D2 and cognition is absent in youth at risk of bipolar disorder.
B. Overs, R. Lenroot, G. Roberts, M. Green +6 more
2021Psychiatry research. Neuroimaging8 citations Open access
Semantic Scholar
Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
C. Toma, Marcos Díaz-Gay, S. Franch-Expósito, C. Arnau-Collell +13 more
2019International Journal of Cancer8 citations Open access
Semantic Scholar
Identifying Extreme Observations, Outliers and Noise in Clinical and Genetic Data
C. Arenas, C. Toma, B. Cormand, I. Irigoien
20178 citations
Semantic Scholar
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
W. Engchuan, O. Shanta, Kuldeep Kumar, J. MacDonald +246 more
2025medRxiv7 citations Open access
Semantic Scholar

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