User profiles for S. E. McCarthy
Shane E McCarthyMgr Statistical Genetics, Regeneron Genetics Center Verified email at regeneron.com Cited by 10276 |
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
J Sebat, DL Levy, SE McCarthy - Trends in Genetics, 2009 - cell.com
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 …
in the etiology of schizophrenia. This research suggests that the genetic architecture of …
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain
elusive. We hypothesize that individually rare structural variants contribute to the illness. …
elusive. We hypothesize that individually rare structural variants contribute to the illness. …
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington… - Nature …, 2009 - nature.com
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 …
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …
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 - nature.com
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 …
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …
Non-symbolic arithmetic abilities and mathematics achievement in the first year of formal schooling
CK Gilmore, SE McCarthy, ES Spelke - Cognition, 2010 - Elsevier
Children take years to learn symbolic arithmetic. Nevertheless, non-human animals, human
adults with no formal education, and human infants represent approximate number in arrays …
adults with no formal education, and human infants represent approximate number in arrays …
Symbolic arithmetic knowledge without instruction
CK Gilmore, SE McCarthy, ES Spelke - Nature, 2007 - nature.com
Symbolic arithmetic is fundamental to science, technology and economics, but its acquisition
by children typically requires years of effort, instruction and drill 1 , 2 . When adults perform …
by children typically requires years of effort, instruction and drill 1 , 2 . When adults perform …
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology.
Recent studies of de novo mutations (DNMs) in schizophrenia and autism have reinforced …
Recent studies of de novo mutations (DNMs) in schizophrenia and autism have reinforced …
[HTML][HTML] Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
…, J Mbatchou, K Watanabe, L Gurski, SE McCarthy… - Nature …, 2022 - nature.com
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-…
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-…
[HTML][HTML] Genomic variability of monkeypox virus among humans, Democratic Republic of the Congo
…, MS Lee, G Koroleva, SE McCarthy… - Emerging infectious …, 2014 - ncbi.nlm.nih.gov
Genomic Variability of Monkeypox Virus, DRC of MPXV is increasing (20, 21). In 2003 in the
DRC, 7 generations of uninterrupted spread among humans were reported (21). Increasing …
DRC, 7 generations of uninterrupted spread among humans were reported (21). Increasing …
[PDF][PDF] Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
…, AH Li, K Watanabe, L Gurski, SE McCarthy… - The American Journal of …, 2021 - cell.com
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease
2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used …
2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used …