Claudio Toma
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View article: High-resolution longitudinal changes in the cortical morphology of youth with family history of bipolar disorder
High-resolution longitudinal changes in the cortical morphology of youth with family history of bipolar disorder Open
Background Individuals with a family history of bipolar disorder are at increased risk of developing affective psychopathology. Longitudinal imaging studies in young people with familial risk have been limited, and cortical developmental t…
View article: Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group
Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group Open
Suicidality phenotypes, consisting of suicidal ideation (SI), suicide attempt (SA), and suicide death (SD), are all heritable but present unique challenges in genome-wide association studies (GWAS) due to their individual complexity, overl…
View article: Polygenic Scores and Mood Disorder Onsets in the Context of Family History and Early Psychopathology
Polygenic Scores and Mood Disorder Onsets in the Context of Family History and Early Psychopathology Open
Importance Bipolar disorder (BD) and major depressive disorder (MDD) aggregate within families, with risk often first manifesting as early psychopathology, including attention-deficit/hyperactivity disorder (ADHD) and anxiety disorders. Ob…
View article: TAF1-dependent transcriptional dysregulation underlies multiple sclerosis
TAF1-dependent transcriptional dysregulation underlies multiple sclerosis Open
A major conceptual and clinical challenge in multiple sclerosis (MS) is understanding the mechanisms that drive the central nervous system (CNS)-resident neuroinflammation and neurodegeneration underneath disease progression. Genome-wide a…
View article: Pathogenic Mis-splicing of CPEB4 in Schizophrenia
Pathogenic Mis-splicing of CPEB4 in Schizophrenia Open
We identified aberrant CPEB4 splicing and downstream misexpression of SCZ risk genes as a novel etiological mechanism in SCZ.
View article: Polygenic Scores and Onset of Major Mood or Psychotic Disorders Among Offspring of Affected Parents
Polygenic Scores and Onset of Major Mood or Psychotic Disorders Among Offspring of Affected Parents Open
Neuroticism and subjective well-being PGSs capture risk of major mood and psychotic disorders that is independent of family history, whereas PGSs for psychiatric illness provide limited predictive power when family history is known. Neurot…
View article: Pathogenic mis-splicing of <i>CPEB4</i> in schizophrenia
Pathogenic mis-splicing of <i>CPEB4</i> in schizophrenia Open
Schizophrenia (SCZ) is caused by a complex interplay of polygenic risk and environmental factors, which might alter regulators of gene expression leading to pathogenic mis-expression of SCZ risk genes. The RNA binding protein family CPEB (…
View article: Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder
Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder Open
Bipolar disorder (BD) is associated with a 20–30‐fold increased suicide risk compared to the general population. First‐degree relatives of BD patients show inflated rates of psychopathology including suicidal behaviors. As reliable biomark…
View article: Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder
Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder Open
Aims Bipolar Disorder (BD) is associated with a 20-30 fold increased suicide risk compared to the general population. First-degree relatives of BD patients show inflated rates of psychopathology including suicidal behaviors. As reliable bi…
View article: A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of <i>ANK3</i> and additional rare alleles at 10q11-q21
A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of <i>ANK3</i> and additional rare alleles at 10q11-q21 Open
Background Bipolar disorder is a highly heritable psychiatric condition for which specific genetic factors remain largely unknown. In the present study, we used combined whole-exome sequencing and linkage analysis to identify risk loci and…
View article: Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores
Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores Open
Wellbeing, a key aspect of mental health, is moderately heritable with varying estimates reported from independent studies employing a variety of instruments. Recent genome‐wide association studies (GWAS) have enabled the construction of p…
View article: Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses
Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses Open
The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole…
View article: De Novo Gene Variants and Familial Bipolar Disorder
De Novo Gene Variants and Familial Bipolar Disorder Open
This case-control study explores de novo candidate gene variants in 18 multiplex families with bipolar disorder.
View article: Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing Open
OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage studies in families…
View article: Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer Open
Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we combined whole‐exome sequencing (WES) and linkage analysis in families with multiple…
View article: Truncating variant burden in high-functioning autism and pleiotropic effects of <i>LRP1</i> across psychiatric phenotypes
Truncating variant burden in high-functioning autism and pleiotropic effects of <i>LRP1</i> across psychiatric phenotypes Open
Background: Previous research has implicated de novo and inherited truncating mutations in autism-spectrum disorder. We aim to investigate whether the load of inherited truncating mutations contributes similarly to high-functioning autism,…
View article: Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders Open
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disabi…
View article: Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of<i>LRP1</i>Across Psychiatric Phenotypes
Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of<i>LRP1</i>Across Psychiatric Phenotypes Open
Previous research has implicated de novo (DN) and inherited truncating mutations in autism spectrum disorder (ASD). We aim to investigate whether the load of inherited truncating mutations contribute similarly to high functioning autism (H…
View article: Comprehensive cross-disorder analyses of <i>CNTNAP2</i> suggest it is unlikely to be a primary risk gene for psychiatric disorders
Comprehensive cross-disorder analyses of <i>CNTNAP2</i> suggest it is unlikely to be a primary risk gene for psychiatric disorders Open
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, …
View article: Paternally inherited cis-regulatory structural variants are associated with autism
Paternally inherited cis-regulatory structural variants are associated with autism Open
Inherited variation contributes to autism About one-quarter of genetic variants that are associated with autism spectrum disorder (ASD) are due to de novo mutations in protein-coding genes. Brandler et al. wanted to determine whether chang…
View article: An examination of multiple classes of rare variants in extended families with bipolar disorder
An examination of multiple classes of rare variants in extended families with bipolar disorder Open
Bipolar disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance, the latter of which are largel…