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Maria Karayiorgou

Researcher at Columbia University

Publications -  81
Citations -  9553

Maria Karayiorgou is an academic researcher from Columbia University. The author has contributed to research in topics: Catechol-O-methyl transferase & Schizophrenia. The author has an hindex of 43, co-authored 80 publications receiving 8895 citations. Previous affiliations of Maria Karayiorgou include University of Pretoria & Columbia University Medical Center.

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Strong association of de novo copy number mutations with sporadic schizophrenia.

TL;DR: The results suggest that rare de novo germline mutations contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many different loci can account, at least in part, for the genetic heterogeneity of this disease.
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Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

TL;DR: Evidence is provided that the abnormal miRNA biogenesis emerges because of haploinsufficiency of the Dgcr8 gene, which encodes an RNA-binding moiety of the 'microprocessor' complex and contributes to the behavioral and neuronal deficits associated with the 22q11.2 microdeletion.
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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

TL;DR: A comparison to rare inherited variants indicated that the identified de novo mutations show a large excess of non-synonymous changes in schizophrenia cases, as well as a greater potential to affect protein structure and function.
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22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

TL;DR: A deeper understanding of the effects of this genetic lesion may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.