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Shane E McCarthy
Shane E McCarthy
Mgr Statistical Genetics, Regeneron Genetics Center
E-mail confirmado em regeneron.com
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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ...
science 320 (5875), 539-543, 2008
21292008
Modelling schizophrenia using human induced pluripotent stem cells
KJ Brennand, A Simone, J Jou, C Gelboin-Burkhart, N Tran, S Sangar, ...
Nature 473 (7346), 221, 2011
16152011
Modelling schizophrenia using human induced pluripotent stem cells
KJ Brennand, A Simone, J Jou, C Gelboin-Burkhart, N Tran, S Sangar, ...
Nature 473 (7346), 221, 2011
16152011
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ...
Nature genetics 41 (11), 1223, 2009
8142009
Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease
FE Dewey, V Gusarova, RL Dunbar, C O’Dushlaine, C Schurmann, ...
New England Journal of Medicine 377 (3), 211-221, 2017
7572017
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
NS Abul-Husn, X Cheng, AH Li, Y Xin, C Schurmann, P Stevis, Y Liu, ...
New England Journal of Medicine 378 (12), 1096-1106, 2018
6802018
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203, 2010
6592010
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
JB Nielsen, RB Thorolfsdottir, LG Fritsche, W Zhou, MW Skov, SE Graham, ...
Nature genetics 50 (9), 1234, 2018
5912018
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, S Yoon, Y Berstein, M Mistry, ...
Molecular psychiatry 19 (6), 652-658, 2014
3972014
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
D Malhotra, S McCarthy, JJ Michaelson, V Vacic, KE Burdick, S Yoon, ...
Neuron 72 (6), 951-963, 2011
3672011
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
V Vacic, S McCarthy, D Malhotra, F Murray, HH Chou, A Peoples, ...
Nature 471 (7339), 499, 2011
3642011
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
J Sebat, DL Levy, SE McCarthy
Trends in Genetics 25 (12), 528-535, 2009
3212009
The monoclonal antibody combination REGEN-COV protects against SARS-CoV-2 mutational escape in preclinical and human studies
R Copin, A Baum, E Wloga, KE Pascal, S Giordano, BO Fulton, A Zhou, ...
Cell 184 (15), 3949-3961. e11, 2021
1882021
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
AS Nord, W Roeb, DE Dickel, T Walsh, M Kusenda, KL O'connor, ...
European Journal of Human Genetics 19 (6), 727, 2011
1322011
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51
T Walsh, SB Pierce, DR Lenz, Z Brownstein, O Dagan-Rosenfeld, ...
The American Journal of Human Genetics 87 (1), 101-109, 2010
1322010
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
JE Horowitz, JA Kosmicki, A Damask, D Sharma, GHL Roberts, AE Justice, ...
Nature genetics 54 (4), 382-392, 2022
1052022
Effect of subcutaneous casirivimab and imdevimab antibody combination vs placebo on development of symptomatic COVID-19 in early asymptomatic SARS-CoV-2 infection: a randomized …
MP O’Brien, E Forleo-Neto, N Sarkar, F Isa, P Hou, KC Chan, BJ Musser, ...
Jama 327 (5), 432-441, 2022
982022
Protein-truncating variants at the cholesteryl ester transfer protein gene and risk for coronary heart disease
A Nomura, HH Won, AV Khera, F Takeuchi, K Ito, S McCarthy, CA Emdin, ...
Circulation research 121 (1), 81-88, 2017
892017
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
JA Kosmicki, JE Horowitz, N Banerjee, R Lanche, A Marcketta, E Maxwell, ...
The American Journal of Human Genetics 108 (7), 1350-1355, 2021
832021
Implication of a rare deletion at distal 16p11. 2 in schizophrenia
S Guha, E Rees, A Darvasi, D Ivanov, M Ikeda, SE Bergen, ...
JAMA psychiatry 70 (3), 253-260, 2013
802013
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