User profiles for author:Shane author:McCarthy

Shane A. McCarthy

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Shane E McCarthy

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

T Walsh, JM McClellan, SE McCarthy… - …, 2008 -
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences
remain elusive. We hypothesize that individually rare structural variants contribute to the
illness. Microdeletions and microduplications> 100 kilobases were identified by microarray

[HTML][HTML] Modeling schizophrenia using hiPSC neurons

…, S Sangar, Y Li, Y Mu, G Chen, D Yu, S McCarthy… - Nature, 2011 -
SUMMARY Schizophrenia (SCZD) is a debilitating neurological disorder with a world-wide
prevalence of 1%; there is a strong genetic component, with an estimated heritability of 80–
85% 1. Though postmortem studies have revealed reduced brain volume, cell size, spine

Microduplications of 16p11. 2 are associated with schizophrenia

SE McCarthy, V Makarov, G Kirov, AM Addington… - Nature …, 2009 -
Abstract Recurrent microdeletions and microduplications of a 600-kb genomic region of
chromosome 16p11. 2 have been implicated in childhood-onset developmental disorders 1,
2, 3. We report the association of 16p11. 2 microduplications with schizophrenia in two large

A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay

…, P Siswara, A Itsara, L Vives, T Walsh, SE McCarthy… - Nature …, 2010 -
We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases
compared with 2 of 8,540 controls (P= 0.0009, OR= 7.2) and replicated in a second series of

[HTML][HTML] Insights into hominid evolution from the gorilla genome sequence

…, T Mailund, T Marques-Bonet, S McCarthy… - Nature, 2012 -
Summary Gorillas are humans' closest living relatives after chimpanzees, and are of
comparable importance for the study of human origins and evolution. Here we present the
assembly and analysis of a genome sequence for the western lowland gorilla, and compare

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, JM Kidd, Y Kong, EW Lameijer, S McCarthy… - Nature, 2015 -
Summary Structural variants (SVs) are implicated in numerous diseases and make up the
majority of varying nucleotides among human genomes. Here we describe an integrated set
of eight SV classes comprising both balanced and unbalanced variants, which we

[HTML][HTML] Duplications of the neuropeptide receptor VIPR2 confer significant risk for schizophrenia

V Vacic, S McCarthy, D Malhotra, F Murray, HH Chou… - Nature, 2011 -
Abstract Rare copy number variants (CNVs) play a prominent role in the etiology of
schizophrenia and other neuropsychiatric disorders 1. Substantial risk for schizophrenia is
conferred by large (> 500 kb) CNVs at several loci, including microdeletions at 1q21. 1 2,

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

J Sebat, DL Levy, SE McCarthy - Trends in Genetics, 2009 - Elsevier
Recent studies have established an important role for rare genomic deletions and
duplications in the etiology of schizophrenia. This research suggests that the genetic
architecture of neuropsychiatric disorders includes a constellation of rare mutations in many

[HTML][HTML] High frequencies of de novo CNVs in bipolar disorder and schizophrenia

D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011 - Elsevier
While it is known that rare copy-number variants (CNVs) contribute to risk for some
neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we
reasoned that a contribution of CNVs to mood disorders might be most evident for de novo

[HTML][HTML] De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

SE McCarthy, J Gillis, M Kramer, J Lihm… - Molecular …, 2014 -
Abstract Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic
etiology. Recent studies of de novo mutations (DNM) in schizophrenia and autism have
reinforced the hypothesis that rare genetic variation contributes to risk. We carried out