Claudio Toma

Paternally inherited cis-regulatory structural variants are associated with autism

William M. Brandler, Danny Antaki, Madhusudan Gujral et al. · Science · 2018 · 211 citations · Full text

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

Claudio Toma, Bàrbara Torrico, Amaia Hervás et al. · Molecular Psychiatry · 2013 · 124 citations · Full text

Heterozygous Truncating Mutations, Mendelian Disorder, Syndromic Autism +11

MET and autism susceptibility: family and case–control studies

Inês Sousa, Taane G. Clark, Claudio Toma et al. · European Journal of Human Genetics · 2008 · 90 citations · Full text

Child Psychology, Psychiatry, Syndromic Autism +7

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes

Aintzane Urbizu, Claudio Toma, María A. Poca et al. · PLoS ONE · 2013 · 75 citations · Full text

Developmental Genes, Genetics, Genetic Epidemiology +19

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

Nuala Sykes, Claudio Toma, Natalie Wilson et al. · European Journal of Human Genetics · 2009 · 71 citations · Full text