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  1. Article

    Open Access

    Amygdala subdivisions exhibit aberrant whole-brain functional connectivity in relation to stress intolerance and psychotic symptoms in 22q11.2DS

    The amygdala is a key region in emotional regulation, which is often impaired in psychosis. However, it is unclear if amygdala dysfunction directly contributes to psychosis, or whether it contributes to psycho...

    Farnaz Delavari, Halima Rafi, Corrado Sandini, Ryan J. Murray in Translational Psychiatry (2023)

  2. Article

    Open Access

    Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome

    While the recurrent 22q11.2 deletion is one of the strongest genetic risk factors for schizophrenia (SCZ), variability of its associated neuropsychiatric endophenotypes reflects its incomplete penetrance for p...

    Maris Alver, Valentina Mancini, Kristi Läll, Maude Schneider in Molecular Psychiatry (2022)

  3. No Access

    Article

    A normative chart for cognitive development in a genetically selected population

    Certain pathogenic genetic variants impact neurodevelopment and cause deviations from typical cognitive trajectories. Understanding variant-specific cognitive trajectories is clinically important for informed ...

    Ania M. Fiksinski, Carrie E. Bearden, Anne S. Bassett in Neuropsychopharmacology (2022)

  4. Article

    Open Access

    Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

    Schizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring...

    Joëlle Bagautdinova, Daniela Zöller, Marie Schaer in Molecular Psychiatry (2021)

  5. No Access

    Article

    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

    Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic fact...

    Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand in Molecular Psychiatry (2021)

  6. Article

    Open Access

    Long-term effects of early treatment with SSRIs on cognition and brain development in individuals with 22q11.2 deletion syndrome

    Cognitive deficits in individuals at risk of psychosis represent a significant challenge for research, as current strategies for symptomatic treatment are often ineffective. Recent studies showed that atypical...

    Valentina Mancini, Johanna Maeder, Karin Bortolin in Translational Psychiatry (2021)

  7. Article

    Open Access

    Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

    Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome...

    Joëlle Bagautdinova, Maria C. Padula, Daniela Zöller in Translational Psychiatry (2020)

  8. No Access

    Article

    Positive psychotic symptoms are associated with divergent developmental trajectories of hippocampal volume during late adolescence in patients with 22q11DS

    Low hippocampal volume is a consistent finding in schizophrenia and across the psychosis spectrum. However, there is a lack of studies investigating longitudinal hippocampal development and its relationship wi...

    Valentina Mancini, Corrado Sandini, Maria C. Padula, Daniela Zöller in Molecular Psychiatry (2020)

  9. Article

    Open Access

    Abnormal development of early auditory processing in 22q11.2 Deletion Syndrome

    The 22q11.2 Deletion Syndrome (22q11.2 DS) is one of the highest genetic risk factors for the development of schizophrenia spectrum disorders. In schizophrenia, reduced amplitude of the frequency mismatch nega...

    Lucia-Manuela Cantonas, Miralena I. Tomescu, Marjan Biria in Translational Psychiatry (2019)

  10. No Access

    Article

    COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

    Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrom...

    Doron Gothelf, Stephan Eliez, Tracy Thompson, Christine Hinard in Nature Neuroscience (2005)