Jonathan D. Blumenthal
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View article: Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- vs. Y-chromosome aneuploidy effects in males
Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- vs. Y-chromosome aneuploidy effects in males Open
Background Psychiatric symptoms are typically highly inter-correlated at the group level. Collectively, these correlations define the architecture of psychopathology—informing taxonomic and mechanistic models in psychiatry. However, to dat…
View article: Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males
Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males Open
Background Psychiatric symptoms are typically highly inter-correlated at the group level. Collectively, these correlations define the architecture of psychopathology – informing taxonomic and mechanistic models in psychiatry. However, to d…
View article: Age-related differences in psychopathology within sex chromosome trisomies
Age-related differences in psychopathology within sex chromosome trisomies Open
Sex chromosome trisomies (SCTs) are a group of genetic disorders characterized by presence of a supernumerary sex chromosome, resulting in karyotypes other than XX or XY. These include XXX (Trisomy X), XXY (Klinefelter syndrome), and XYY (…
View article: X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes
X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes Open
Background Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to sha…
View article: Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome
Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome Open
Using deeper phenotyping in an expanded sample, we did not find evidence for substantial POX effects on neurobehavioral variability, except for localized unilateral modulations of surface area in the absence of co-occurring behavioral asso…
View article: Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence
Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence Open
Sex chromosome aneuploidies (SCAs) are collectively common conditions caused by carriage of a sex chromosome dosage other than XX for females and XY for males. Increases in sex chromosome dosage (SCD) have been shown to have an inverted‐U …
View article: X- vs. Y-Chromosome Influences on Human Behavior: A Deep Phenotypic Comparison of Psychopathology in XXY and XYY Syndromes
X- vs. Y-Chromosome Influences on Human Behavior: A Deep Phenotypic Comparison of Psychopathology in XXY and XYY Syndromes Open
Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteri…
View article: Aneuploidy effects on human gene expression across three cell types
Aneuploidy effects on human gene expression across three cell types Open
Aneuploidy syndromes impact multiple organ systems but understanding of tissue-specific aneuploidy effects remains limited—especially for the comparison between peripheral tissues and relatively inaccessible tissues like brain. Here, we ad…
View article: A Cross-Species Neuroimaging Study of Sex Chromosome Dosage Effects on Human and Mouse Brain Anatomy
A Cross-Species Neuroimaging Study of Sex Chromosome Dosage Effects on Human and Mouse Brain Anatomy Open
All eutherian mammals show chromosomal sex determination with contrasting sex chromosome dosages (SCDs) between males (XY) and females (XX). Studies in transgenic mice and humans with sex chromosome trisomy (SCT) have revealed direct SCD e…
View article: A cross-species study of sex chromosome dosage effects on mammalian brain anatomy
A cross-species study of sex chromosome dosage effects on mammalian brain anatomy Open
Summary All eutherian mammals show chromosomal sex determination with contrasting sex chromosome dosages (SCDs) between males (XY) and females (XX). Studies in transgenic mice and humans with sex chromosome trisomy (SCT) have revealed dire…
View article: Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome
Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome Open
Background Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizabl…
View article: Sex Chromosome Dosage Effects on White Matter Structure in the Human Brain
Sex Chromosome Dosage Effects on White Matter Structure in the Human Brain Open
Sex chromosome aneuploidies, a group of neurogenetic conditions characterized by aberrant sex chromosome dosage (SCD), are associated with increased risks for psychopathology as well as alterations in gray matter structure. However, we sti…
View article: Morphological integration of the human brain across adolescence and adulthood
Morphological integration of the human brain across adolescence and adulthood Open
Significance Attaining correct anatomical proportions is an important developmental goal. Although the patterning of individual deviations from such proportions has been well-studied in nonhuman animals and various human body measurements,…
View article: Resting-State Functional Connectivity and Psychopathology in Klinefelter Syndrome (47, XXY)
Resting-State Functional Connectivity and Psychopathology in Klinefelter Syndrome (47, XXY) Open
Klinefelter syndrome (47, XXY; henceforth: XXY syndrome) is a high-impact but poorly understood genetic risk factor for neuropsychiatric impairment. Here, we provide the first study to map alterations of functional brain connectivity in XX…
View article: Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome
Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome Open
Background: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to …
View article: Resting-state functional connectivity and psychopathology in Klinefelter syndrome (47, XXY)
Resting-state functional connectivity and psychopathology in Klinefelter syndrome (47, XXY) Open
Klinefelter syndrome (47, XXY; Henceforth: XXY syndrome) is a high impact but poorly understood genetic risk factor for neuropsychiatric impairment. Here, we provide the first neuroimaging study to map resting-state functional connectivity…
View article: Author Correction: Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Author Correction: Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders Open
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
View article: Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome
Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome Open
Background: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to …
View article: Integrative structural, functional, and transcriptomic analyses of sex-biased brain organization in humans
Integrative structural, functional, and transcriptomic analyses of sex-biased brain organization in humans Open
Significance Sex differences in brain organization are theoretically important for our understanding of sex differences in human cognition and behavior. However, neurobiological sex differences have been easier to characterize in mice than…
View article: Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition
Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition Open
Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter‐individual variation in cognitive ability have be…
View article: Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome
Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Application in XYY Syndrome Open
Background Genomic copy number variations (CNVs) can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given CNV. One potential path to advance precision medicine for neurogenetic disorders …
View article: Altered Sex Chromosome Dosage Induces Coordinated Shifts in Cortical Anatomy and Anatomical Covariance
Altered Sex Chromosome Dosage Induces Coordinated Shifts in Cortical Anatomy and Anatomical Covariance Open
Sex chromosome dosage (SCD) variation increases risk for neuropsychiatric impairment, which may reflect direct SCD effects on brain organization. Here, we 1) map cumulative X- and Y-chromosome dosage effects on regional cortical thickness …
View article: Sex-biased trajectories of amygdalo-hippocampal morphology change over human development
Sex-biased trajectories of amygdalo-hippocampal morphology change over human development Open
The amygdala and hippocampus are two adjacent allocortical structures implicated in sex-biased and developmentally-emergent psychopathology. However, the spatiotemporal dynamics of amygdalo-hippocampal development remain poorly understood …
View article: Sex-Biased Trajectories of Amygdalo-Hippocampal Morphology Change Over Human Development
Sex-Biased Trajectories of Amygdalo-Hippocampal Morphology Change Over Human Development Open
The amygdala and hippocampus are two adjacent allocortical structures implicated in sex-biased and developmentally-emergent psychopathology. However, the spatiotemporal dynamics of amygdalo-hippocampal development remain poorly understood …
View article: Longitudinally Mapping Childhood Socioeconomic Status Associations with Cortical and Subcortical Morphology
Longitudinally Mapping Childhood Socioeconomic Status Associations with Cortical and Subcortical Morphology Open
Childhood socioeconomic status (SES) impacts cognitive development and mental health, but its association with human structural brain development is not yet well characterized. Here, we analyzed 1243 longitudinally acquired structural MRI …