Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders

S Bizzotto, CA Walsh - Nature Reviews Neuroscience, 2022 - nature.com
Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

Integrating genetic structural variations and whole-genome sequencing into clinical neurology

X Lin, Y Yang, PE Melton, V Singh… - Neurology …, 2022 - AAN Enterprises
Advances in genome sequencing technologies have unlocked new possibilities in
identifying disease-associated and causative genetic markers, which may in turn enhance …

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

EA Maury, MA Sherman, G Genovese, TG Gilgenast… - Cell genomics, 2023 - cell.com
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the
contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains …

The contribution of mosaic chromosomal alterations to schizophrenia

K Chang, X Jian, C Wu, C Gao, Y Li, J Chen, B Xue… - Biological …, 2024 - Elsevier
Background Mosaic chromosomal alterations are implicated in neuropsychiatric disorders,
but the contribution to schizophrenia (SCZ) risk for somatic copy number variations (sCNVs) …

Somatic mosaicism in the diseased brain

IY Iourov, SG Vorsanova, OS Kurinnaia, SI Kutsev… - Molecular …, 2022 - Springer
It is hard to believe that all the cells of a human brain share identical genomes. Indeed,
single cell genetic studies have demonstrated intercellular genomic variability in the normal …

Genomic Mosaicism of the Brain: Origin, Impact, and Utility

JH Graham, JCM Schlachetzki, X Yang… - Neuroscience Bulletin, 2024 - Springer
Genomic mosaicism describes the phenomenon where some but not all cells within a tissue
harbor unique genetic mutations. Traditionally, research focused on the impact of genomic …

Cytogenomic epileptology

IY Iourov, AP Gerasimov, MA Zelenova… - Molecular …, 2023 - Springer
Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of
epilepsy. However, current genomic research of this devastative condition is generally …

The Etiology of Autism Spectrum Disorder and Gender Dysphoria

A Nelson, P Somerville, S Patel… - 2024 46th Annual …, 2024 - ieeexplore.ieee.org
This paper investigates the genetic correlations between Autism Spectrum Disorder (ASD)
and Gender Dysphoria (GD) using network science techniques applied to data from the …

Somatic mutations in the human brain: Tracing the origins of cancer and schizophrenia

EA Maury - 2022 - search.proquest.com
Somatic mutations, present in a subset of cells in the body, provide a unique opportunity for
mechanistic understanding of disease. Somatic mutations represent natural experiments in …

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O Avitzur, PCE Jackson, JM Miyasaki, JC Stevens - Neurology, 2021 - AAN Enterprises
Copyright and Permission Information: Please go to the journal website (www. neurology.
org/nn) and click the Permissions tab for the relevant article. Alternatively, send an email to …