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Paper

Aguirre-Chen, C., Stec, N., Ramos, O. M., Kim, N., Kramer, M., McCarthy, S., Gillis, J., McCombie, W. R., Hammell, C. M. (May 2020) A Caenorhabditis elegans Model for Integrating the Functions of Neuropsychiatric Risk Genes Identifies Components Required for Normal Dendritic Morphology. G3: Genes, Genomes, Genetics, 10 (5). pp. 1617-1628. ISSN 21601836

Bodkin, J. A., Coleman, M. J., Godfrey, L. J., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Ongur, D., Kaufman, M. J., Lewandowski, K. E., Siegel, A. J., Waldstreicher, E., Grochowski, C. M., Javitt, D. C., Rujescu, D., Hebbring, S., Weinshilboum, R., Rodriguez, S. B., Kirchhoff, C., Visscher, T., Vuckovic, A., Fialkowski, A., McCarthy, S., Malhotra, D., Sebat, J., Goff, D. C., Hudson, J. I., Lupski, J. R., Coyle, J. T., Rudolph, U., Levy, D. L. (May 2019) Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry, 86 (7). pp. 523-535. ISSN 0006-3223

Harold, D., Connolly, S., Riley, B. P., Kendler, K. S., McCarthy, S. E., McCombie, W. R., Richards, A., Owen, M. J., O'Donovan, M. C., Walters, J., Donohoe, G., Gill, M., Corvin, A., Morris, D. W. (February 2019) Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 180 (3). pp. 223-231. ISSN 0148-7299

Ryan, N. M., Lihm, J., Kramer, M., McCarthy, S., Morris, S. W., Arnau-Soler, A., Davies, G., Duff, B., Ghiban, E., Hayward, C., Deary, I. J., Blackwood, D. H. R., Lawrie, S. M., McIntosh, A. M., Evans, K. L., Porteous, D. J., McCombie, W. R., Thomson, P. A. (June 2018) DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders. Mol Psychiatry, 23 (12). pp. 2254-2285. ISSN 1359-4184

Teng, S., Thomson, P. A., McCarthy, S., Kramer, M., Muller, S., Lihm, J., Morris, S., Soares, D. C., Hennah, W., Harris, S., Camargo, L. M., Malkov, V., McIntosh, A. M., Millar, J. K., Blackwood, D. H., Evans, K. L., Deary, I. J., Porteous, D. J., McCombie, W. R. (May 2018) Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia. Mol Psychiatry, 23 (5). pp. 1270-1277. ISSN 1359-4184

Grochowski, C. M., Gu, S., Yuan, B., Tcw, J., Brennand, K. J., Sebat, J., Malhotra, D., McCarthy, S., Rudolph, U., Lindstrand, A., Chong, Z., Levy, D. L., Lupski, J. R., Carvalho, C. M. B. (April 2018) Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat, 39 (7). pp. 939-946. ISSN 1059-7794

McCartney, D. L., Walker, R. M., Morris, S. W., Anderson, S. M., Duff, B. J., Marioni, R. E., Millar, J. K., McCarthy, S. E., Ryan, N. M., Lawrie, S. M., Watson, A. R., Blackwood, D. H. R., Thomson, P. A., McIntosh, A. M., McCombie, W. R., Porteous, D. J., Evans, K. L. (March 2018) Altered DNA methylation associated with a translocation linked to major mental illness. NPJ Schizophr, 4 (1). p. 5. ISSN 2334-265X (Print)2334-265x

Thomson, P., Duff, B., McCarthy, S., Ryan, N. M., Whalley, H. C., de la Bastide, M., Morris, S. W., McIntosh, A. M., Evans, K. L., Lawrie, S. M., Blackwood, D. H. R., McCombie, W. R., Porteous, D. J. (October 2017) CLINICAL AND GENETIC RE-EVALUATION OF THE SCOTTISH DISCI TRANSLOCATION FAMILY. European Neuropsychopharmacology, 27 (Supple). Meeting Abstract 37; S276-S277. ISSN 0924-977X

TCW, J., Carvalho, C. M. B., Yuan, B., Gu, S., Altheimer, A. N., McCarthy, S., Malhotra, D., Sebat, J., Siegel, A. J., Rudolph, U., Lupski, J. R., Levy, D. L., Brennand, K. J. (March 2017) Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports, 8 (3). pp. 519-528.

Lee, I. S., Carvalho, C. M., Douvaras, P., Ho, S. M., Hartley, B. J., Zuccherato, L. W., Ladran, I. G., Siegel, A. J., McCarthy, S., Malhotra, D., Sebat, J., Rapoport, J., Fossati, V., Lupski, J. R., Levy, D. L., Brennand, K. J. (June 2015) Characterization of molecular and cellular phenotypes associated with a heterozygous deletion using patient-derived hiPSC neural cells. NPJ Schizophr, 1. ISSN 2334-265X (Print)2334-265X (Linking)

Carvalho, C. M. B., Brennand, K., Yuan, B., Sebat, J., Malhotra, D., McCarthy, S., Rudolph, U., Levy, D., Lupski, J. R. (March 2015) Mosaicism May underlie Pleiotropic Psychiatric Phenotypes. Schizophrenia Bulletin, 41. S198-S199. ISSN 0586-76141745-1701

Levy, D., Coleman, M., Godfrey, L., Sebat, J., Ongur, D., Kaufman, M. J., McCarthy, S., Malhotra, D., Lewandowski, K., Javitt, D., Waldstreicher, E., Vuckovic, A., Visscher, T., Kirchhoff, C., Coyle, J. T., Suckow, R., Rudolph, U., Bodkin, J. (March 2015) Successful Targeted Treatment of a Medically Actionable Mutation in Psychotic Disorders. Schizophrenia Bulletin, 41. S207-S207. ISSN 0586-7614

Thomson, P. A., Parla, J. S., McRae, A. F., Kramer, M., Ramakrishnan, K., Yao, J., Soares, D. C., McCarthy, S., Morris, S. W., Cardone, L., Cass, S., Ghiban, E., Hennah, W., Evans, K. L., Rebolini, D., Millar, J. K., Harris, S. E., Starr, J. M., MacIntyre, D. J., McIntosh, A. M., Watson, J. D., Deary, I. J., Visscher, P. M., Blackwood, D. H., McCombie, W. R., Porteous, D. J. (June 2014) 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: Analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry, 19 (6). pp. 668-675. ISSN 14765578

McCarthy, S. E., Gillis, J., Kramer, M., Lihm, J., Yoon, S., Berstein, Y., Mistry, M., Pavlidis, P., Solomon, R., Ghiban, E., Antoniou, E., Kelleher, E., O'Brien, C., Donohoe, G., Gill, M., Morris, D. W., McCombie, W. R., Corvin, A. (June 2014) De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Molecular Psychiatry, 19 (6). pp. 652-658. ISSN 14765578

McCarthy, S. E., McCombie, W. R., Corvin, A. (March 2014) Unlocking the Treasure Trove: From Genes to Schizophrenia Biology. Schizophrenia Bulletin, 40 (3). pp. 492-496. ISSN 0586-7614

Porteous, D. J., Thomson, P. A., Millar, J. K., Evans, K. L., Hennah, W., Soares, D. C., McCarthy, S., McCombie, W. R., Clapcote, S. J., Korth, C., Brandon, N. J., Sawa, A., Kamiya, A., Roder, J. C., Lawrie, S. M., McIntosh, A. M., St Clair, D., Blackwood, D. H. (February 2014) DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan. Mol Psychiatry, 19 (2). pp. 141-3. ISSN 1359-4184

Guha, S., Rees, E., Darvasi, A., Ivanov, D., Ikeda, M., Bergen, S. E., Magnusson, P. K., Cormican, P., Morris, D., Gill, M., Cichon, S., Rosenfeld, J. A., Lee, A., Gregersen, P. K., Kane, J. M., Malhotra, A. K., Rietschel, M., Nothen, M. M., Degenhardt, F., Priebe, L., Breuer, R., Strohmaier, J., Ruderfer, D. M., Moran, J. L., Chambert, K. D., Sanders, A. R., Shi, J. X., Kendler, K., Riley, B., O'Neill, T., Walsh, D., Malhotra, D., Corvin, A., Purcell, S., Sklar, P., Iwata, N., Hultman, C. M., Sullivan, P. F., Sebat, J., McCarthy, S., Gejman, P. V., Levinson, D. F., Owen, M. J., O'Donovan, M. C., Lencz, T., Kirov, G. (2013) Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia. Jama Psychiatry, 70 (3). pp. 253-260. ISSN 2168-622X

Nord, A. S., Roeb, W., Dickel, D. E., Walsh, T., Kusenda, M., O'Connor, K. L., Malhotra, D., McCarthy, S. E., Stray, S. M., Taylor, S. M., Sebat, J., King, B., King, M. C., McClellan, J. M. (June 2011) Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. European Journal of Human Genetics, 19 (6). pp. 727-731. ISSN 10184813 (ISSN)

Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., McCarthy, S. E., Sebat, J., Gage, F. H. (May 2011) Modelling schizophrenia using human induced pluripotent stem cells. Nature, 473 (7346). 221 - 225. ISSN 00280836 (ISSN)

Vacic, V., McCarthy, S. E., Malhotra, D., Murray, F., Chou, H. H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., Iakoucheva, L. M., Krastoshevsky, O., Krause, V., Larach-Walters, V., Welsh, D. K., Craig, D., Kelsoe, J. R., Gershon, E. S., Leal, S. M., Aquila, M. D., Morris, D. W., Gill, M., Corvin, A., Insel, P. A., McClellan, J., King, M. C., Karayiorgou, M., Levy, D. L., Delisi, L. E., Sebat, J. (February 2011) Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature, 471 (7339). pp. 499-503. ISSN 1476-4687 (Electronic)0028-0836 (Linking)

Wall, C. E., Cozza, S., Riquelme, C. A., McCombie, W. R., Heimiller, J. K., Marr, T. G., Leinwand, L. A. (January 2011) Whole transcriptome analysis of the fasting and fed Burmese python heart: insights into extreme physiological cardiac adaptation. Physiological Genomics, 43 (2). pp. 69-76. ISSN 1094-8341

Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., Gill, M., Karayiorgou, M., Kelsoe, J. R., Krastoshevsky, O., Krause, V., Leibenluft, E., Levy, D. L., Makarov, V., Bhandari, A., Malhotra, A. K., McMahon, F. J., Nöthen, M. M., Potash, J. B., Rietschel, M., Schulze, T. G., Sebat, J. (2011) High frequencies of de novo cnvs in bipolar disorder and schizophrenia. Neuron, 72 (6). pp. 951-963. ISSN 08966273 (ISSN)

Walsh, T., Pierce, S. B., Lenz, D. R., Brownstein, Z., Dagan-Rosenfeld, O., Shahin, H., Roeb, W., McCarthy, S. E., Nord, A. S., Gordon, C. R., Ben-Neriah, Z., Sebat, J., Kanaan, M., Lee, M. K., Frydman, M., King, M. C., Avraham, K. B. (July 2010) Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51. American Journal of Human Genetics, 87 (1). 101-109 .

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., Mefford, H. C., Kidd, J. M., Browning, S. R., Browning, B. L., Dickel, D. E., Levy, D. L., Ballif, B. C., Platky, K., Farber, D. M., Gowans, G. C., Wetherbee, J. J., Asamoah, A., Weaver, D. D., Mark, P. R., Dickerson, J., Garg, B. P., Ellingwood, S. A., Smith, R., Banks, V. C., Smith, W., McDonald, M. T., Hoo, J. J., French, B. N., Hudson, C., Johnson, J. P., Ozmore, J. R., Moeschler, J. B., Surti, U., Escobar, L. F., El-Khechen, D., Gorski, J. L., Kussmann, J., Salbert, B., Lacassie, Y., Biser, A., McDonald-McGinn, D. M., Zackai, E. H., Deardorff, M. A., Shaikh, T. H., Haan, E., Friend, K. L., Fichera, M., Romano, C., Gécz, J., DeLisi, L. E., Sebat, J., King, M. C., Shaffer, L. G., Eichler, E. E. (March 2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42 (3). pp. 203-209.

Blomqvist, M. E., McCarthy, S. E., Blennow, K., Andersson, B., Prince, J. A. (2010) Evaluation of neprilysin sequence variation in relation to CSF beta-Amyloid levels and Alzheimer disease risk. International Journal of Molecular Epidemiology and Genetics, 1 (1). pp. 47-52.

McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R. A., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E. H., Kaplan, P., Ganesh, J., Krantz, I. D., Spinner, N. B., Roccanova, P., Bhandari, A., Pavon, K., Lakshmi, B., Leotta, A., Kendall, J. T., Lee, Y. H., Vacic, V., Gary, S., Iakoucheva, L. M., Crow, T. J., Christian, S. L., Lieberman, J. A., Stroup, T. S., Lehtimaki, T., Puura, K., Haldeman-Englert, C., Pearl, J., Goodell, M., Willour, V. L., DeRosse, P., Steele, J., Kassem, L., Wolff, J., Chitkara, N., McMahon, F. J., Malhotra, A. K., Potash, J. B., Schulze, T. G., Nothen, M. M., Cichon, S., Rietschel, M., Leibenluft, E., Kustanovich, V., Lajonchere, C. M., Sutcliffe, J. S., Skuse, D., Gill, M., Gallagher, L., Mendell, N. R., Craddock, N., Owen, M. J., O'Donovan, M. C., Shaikh, T. H., Susser, E., DeLisi, L. E., Sullivan, P. F., Deutsch, C. K., Rapoport, J., Levy, D. L., King, M. C., Sebat, J. (November 2009) Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics, 41 (11). pp. 1223-1227. ISSN 1061-4036

Sebat, J., Levy, D. L., McCarthy, S. E. (October 2009) Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet.

Deutsch, C. K., Malhotra, D., Krause, V., McCarthy, S. E., Krastoshevsky, O., Coleman, M., Francis, R. W., Bodkin, J. A., Boling, L., Cole, J., Gibbs, A., Johnson, F., Lerbinger, J., Mendell, N. R., Sebat, J., Levy, D. L. (March 2009) Rare Gene Copy Number Variations Are Associated with Specific Endophenotypes in Schizophrenia. Schizophrenia Bulletin, 35 (Suppl.). p. 117. ISSN 0586-7614

McClellan, J. M., Walsh, T., McCarthy, S. E., King, M. C., Sebat, J. (August 2008) Gene mutations and cognitive delay. Science, 321 (5889). p. 640. ISSN 0036-8075

Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., Roccanova, P., Makarov, V., Lakshmi, B., Findling, R. L., Sikich, L., Stromberg, T., Merriman, B., Gogtay, N., Butler, P., Eckstrand, K., Noory, L., Gochman, P., Long, R., Chen, Z., Davis, S., Baker, C., Eichler, E. E., Meltzer, P. S., Nelson, S. F., Singleton, A. B., Lee, M. K., Rapoport, J. L., King, M. C., Sebat, J. (April 2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320 (5875). pp. 539-43.

Conference or Workshop Item

Ryan, Niamh, Lihm, Jayon, Kramer, Melissa, McCarthy, Shane, Evans, Kathryn, Ghiban, Elena, Millar, J Kirsty, Scotland, Generation, McIntosh, Andrew, Blackwood, Douglas, Lawrie, Stephen, Porteous, David, McCombie, W Richard, Thomson, Pippa (2019) BEYOND THE TRANSLOCATION: WHOLE GENOME SEQUENCING ANALYSIS OF THE SCOTTISH T(1;11) FAMILY. In: 25th World Congress of Psychiatric Genetics (WCPG).