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Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.

Frontiers in neuroscience

Alexander J, Potamianou H, Xing J, Deng L, Karagiannidis I, Tsetsos F, Drineas P, Tarnok Z, Rizzo R, Wolanczyk T, Farkas L, Nagy P, Szymanska U, Androutsos C, Tsironi V, Koumoula A, Barta C, Sandor P, Barr CL, Tischfield J, Paschou P, Heiman GA, Georgitsi M.
PMID: 27708560
Front Neurosci. 2016 Sep 21;10:428. doi: 10.3389/fnins.2016.00428. eCollection 2016.

Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS (

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Alexander J, Potamianou H, Xing J, et al. Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Front Neurosci. 2016;10:428doi: 10.3389/fnins.2016.00428.
Alexander, J., Potamianou, H., Xing, J., Deng, L., Karagiannidis, I., Tsetsos, F., Drineas, P., Tarnok, Z., Rizzo, R., Wolanczyk, T., Farkas, L., Nagy, P., Szymanska, U., Androutsos, C., Tsironi, V., Koumoula, A., Barta, C., Sandor, P., Barr, C. L., Tischfield, J., Paschou, P., Heiman, G. A., & Georgitsi, M. (2016). Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Frontiers in neuroscience, 10428. https://doi.org/10.3389/fnins.2016.00428
Alexander, John, et al. "Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology." Frontiers in neuroscience vol. 10 (2016): 428. doi: https://doi.org/10.3389/fnins.2016.00428
Alexander J, Potamianou H, Xing J, Deng L, Karagiannidis I, Tsetsos F, Drineas P, Tarnok Z, Rizzo R, Wolanczyk T, Farkas L, Nagy P, Szymanska U, Androutsos C, Tsironi V, Koumoula A, Barta C, Sandor P, Barr CL, Tischfield J, Paschou P, Heiman GA, Georgitsi M. Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Front Neurosci. 2016 Sep 21;10:428. doi: 10.3389/fnins.2016.00428. eCollection 2016. PMID: 27708560; PMCID: PMC5030307.
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A ν-support vector regression based approach for predicting imputation quality.

BMC proceedings

Huang YH, Rice JP, Saccone SF, Ambite JL, Arens Y, Tischfield JA, Hsu CN.
PMID: 23173775
BMC Proc. 2012 Nov 13;6:S3. doi: 10.1186/1753-6561-6-S7-S3. Epub 2012 Nov 13.

BACKGROUND: Decades of genome-wide association studies (GWAS) have accumulated large volumes of genomic data that can potentially be reused to increase statistical power of new studies, but different genotyping platforms with different marker sets have been used as biotechnology...

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Huang YH, Rice JP, Saccone SF, et al. A ν-support vector regression based approach for predicting imputation quality. BMC Proc. 2012;6:S3doi: 10.1186/1753-6561-6-S7-S3.
Huang, Y. H., Rice, J. P., Saccone, S. F., Ambite, J. L., Arens, Y., Tischfield, J. A., & Hsu, C. N. (2012). A ν-support vector regression based approach for predicting imputation quality. BMC proceedings, 6S3. https://doi.org/10.1186/1753-6561-6-S7-S3
Huang, Yi-Hung, et al. "A ν-support vector regression based approach for predicting imputation quality." BMC proceedings vol. 6 (2012): S3. doi: https://doi.org/10.1186/1753-6561-6-S7-S3
Huang YH, Rice JP, Saccone SF, Ambite JL, Arens Y, Tischfield JA, Hsu CN. A ν-support vector regression based approach for predicting imputation quality. BMC Proc. 2012 Nov 13;6:S3. doi: 10.1186/1753-6561-6-S7-S3. Epub 2012 Nov 13. PMID: 23173775; PMCID: PMC3504919.
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Employing MCMC under the PPL framework to analyze sequence data in large pedigrees.

Frontiers in genetics

Huang Y, Thomas A, Vieland VJ.
PMID: 23626600
Front Genet. 2013 Apr 19;4:59. doi: 10.3389/fgene.2013.00059. eCollection 2013.

The increased feasibility of whole-genome (or whole-exome) sequencing has led to renewed interest in using family data to find disease mutations. For clinical phenotypes that lend themselves to study in large families, this approach can be particularly effective, because...

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Huang Y, Thomas A, Vieland VJ. Employing MCMC under the PPL framework to analyze sequence data in large pedigrees. Front Genet. 2013;4:59doi: 10.3389/fgene.2013.00059.
Huang, Y., Thomas, A., & Vieland, V. J. (2013). Employing MCMC under the PPL framework to analyze sequence data in large pedigrees. Frontiers in genetics, 459. https://doi.org/10.3389/fgene.2013.00059
Huang, Yungui, et al. "Employing MCMC under the PPL framework to analyze sequence data in large pedigrees." Frontiers in genetics vol. 4 (2013): 59. doi: https://doi.org/10.3389/fgene.2013.00059
Huang Y, Thomas A, Vieland VJ. Employing MCMC under the PPL framework to analyze sequence data in large pedigrees. Front Genet. 2013 Apr 19;4:59. doi: 10.3389/fgene.2013.00059. eCollection 2013. PMID: 23626600; PMCID: PMC3630390.
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)

Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, Hwang SJ, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen LP, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J, Del Greco M F, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Jarvelin MR, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw KT, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QT, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Saint Pierre A, Sala CF, Sarin AP, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud AC, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JH, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, Jukema JW, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB.
PMID: 28739976
Hypertension. 2017 Jul 24; doi: 10.1161/HYPERTENSIONAHA.117.09438. Epub 2017 Jul 24.

Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel...

Cite
Wain LV, Vaez A, Jansen R, et al. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017;doi: 10.1161/HYPERTENSIONAHA.117.09438.
Wain, L. V., Vaez, A., Jansen, R., Joehanes, R., van der Most, P. J., Erzurumluoglu, A. M., O'Reilly, P. F., Cabrera, C. P., Warren, H. R., Rose, L. M., Verwoert, G. C., Hottenga, J. J., Strawbridge, R. J., Esko, T., Arking, D. E., Hwang, S. J., Guo, X., Kutalik, Z., Trompet, S., Shrine, N., Teumer, A., Ried, J. S., Bis, J. C., Smith, A. V., Amin, N., Nolte, I. M., Lyytikäinen, L. P., Mahajan, A., Wareham, N. J., Hofer, E., Joshi, P. K., Kristiansson, K., Traglia, M., Havulinna, A. S., Goel, A., Nalls, M. A., Sõber, S., Vuckovic, D., Luan, J., Del Greco M, F., Ayers, K. L., Marrugat, J., Ruggiero, D., Lopez, L. M., Niiranen, T., Enroth, S., Jackson, A. U., Nelson, C. P., Huffman, J. E., Zhang, W., Marten, J., Gandin, I., Harris, S. E., Zemunik, T., Lu, Y., Evangelou, E., Shah, N., de Borst, M. H., Mangino, M., Prins, B. P., Campbell, A., Li-Gao, R., Chauhan, G., Oldmeadow, C., Abecasis, G., Abedi, M., Barbieri, C. M., Barnes, M. R., Batini, C., Beilby, J., Blake, T., Boehnke, M., Bottinger, E. P., Braund, P. S., Brown, M., Brumat, M., Campbell, H., Chambers, J. C., Cocca, M., Collins, F., Connell, J., Cordell, H. J., Damman, J. J., Davies, G., de Geus, E. J., de Mutsert, R., Deelen, J., Demirkale, Y., Doney, A. S. F., Dörr, M., Farrall, M., Ferreira, T., Frånberg, M., Gao, H., Giedraitis, V., Gieger, C., Giulianini, F., Gow, A. J., Hamsten, A., Harris, T. B., Hofman, A., Holliday, E. G., Hui, J., Jarvelin, M. R., Johansson, �. �., Johnson, A. D., Jousilahti, P., Jula, A., Kähönen, M., Kathiresan, S., Khaw, K. T., Kolcic, I., Koskinen, S., Langenberg, C., Larson, M., Launer, L. J., Lehne, B., Liewald, D. C. M., Lin, L., Lind, L., Mach, F., Mamasoula, C., Menni, C., Mifsud, B., Milaneschi, Y., Morgan, A., Morris, A. D., Morrison, A. C., Munson, P. J., Nandakumar, P., Nguyen, Q. T., Nutile, T., Oldehinkel, A. J., Oostra, B. A., Org, E., Padmanabhan, S., Palotie, A., Paré, G., Pattie, A., Penninx, B. W. J. H., Poulter, N., Pramstaller, P. P., Raitakari, O. T., Ren, M., Rice, K., Ridker, P. M., Riese, H., Ripatti, S., Robino, A., Rotter, J. I., Rudan, I., Saba, Y., Saint Pierre, A., Sala, C. F., Sarin, A. P., Schmidt, R., Scott, R., Seelen, M. A., Shields, D. C., Siscovick, D., Sorice, R., Stanton, A., Stott, D. J., Sundström, J., Swertz, M., Taylor, K. D., Thom, S., Tzoulaki, I., Tzourio, C., Uitterlinden, A. G., Völker, U., Vollenweider, P., Wild, S., Willemsen, G., Wright, A. F., Yao, J., Thériault, S., Conen, D., Attia, J., Sever, P., Debette, S., Mook-Kanamori, D. O., Zeggini, E., Spector, T. D., van der Harst, P., Palmer, C. N. A., Vergnaud, A. C., Loos, R. J. F., Polasek, O., Starr, J. M., Girotto, G., Hayward, C., Kooner, J. S., Lindgren, C. M., Vitart, V., Samani, N. J., Tuomilehto, J., Gyllensten, U., Knekt, P., Deary, I. J., Ciullo, M., Elosua, R., Keavney, B. D., Hicks, A. A., Scott, R. A., Gasparini, P., Laan, M., Liu, Y., Watkins, H., Hartman, C. A., Salomaa, V., Toniolo, D., Perola, M., Wilson, J. F., Schmidt, H., Zhao, J. H., Lehtimäki, T., van Duijn, C. M., Gudnason, V., Psaty, B. M., Peters, A., Rettig, R., James, A., Jukema, J. W., Strachan, D. P., Palmas, W., Metspalu, A., Ingelsson, E., Boomsma, D. I., Franco, O. H., Bochud, M., Newton-Cheh, C., Munroe, P. B., Elliott, P., Chasman, D. I., Chakravarti, A., Knight, J., Morris, A. P., Levy, D., Tobin, M. D., Snieder, H., Caulfield, M. J., & Ehret, G. B. (2017). Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension (Dallas, Tex. : 1979), . https://doi.org/10.1161/HYPERTENSIONAHA.117.09438
Wain, Louise V, et al. "Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney." Hypertension (Dallas, Tex. : 1979) vol. (2017). doi: https://doi.org/10.1161/HYPERTENSIONAHA.117.09438
Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, Hwang SJ, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen LP, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J, Del Greco M F, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Jarvelin MR, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw KT, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QT, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Saint Pierre A, Sala CF, Sarin AP, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud AC, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JH, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, Jukema JW, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017 Jul 24; doi: 10.1161/HYPERTENSIONAHA.117.09438. Epub 2017 Jul 24. PMID: 28739976; PMCID: PMC5783787.
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Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.

Frontiers in psychiatry

Sun N, Tischfield JA, King RA, Heiman GA.
PMID: 26903887
Front Psychiatry. 2016 Feb 09;7:11. doi: 10.3389/fpsyt.2016.00011. eCollection 2016.

Tourette's disorder (TD) is a highly heritable neurodevelopmental disorder with complex genetic architecture and unclear neuropathology. Disruptions of particular genes have been identified in subsets of TD patients. However, none of the findings have been replicated, probably due to...

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Sun N, Tischfield JA, King RA, et al. Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Front Psychiatry. 2016;7:11doi: 10.3389/fpsyt.2016.00011.
Sun, N., Tischfield, J. A., King, R. A., & Heiman, G. A. (2016). Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Frontiers in psychiatry, 711. https://doi.org/10.3389/fpsyt.2016.00011
Sun, Nawei, et al. "Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder." Frontiers in psychiatry vol. 7 (2016): 11. doi: https://doi.org/10.3389/fpsyt.2016.00011
Sun N, Tischfield JA, King RA, Heiman GA. Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Front Psychiatry. 2016 Feb 09;7:11. doi: 10.3389/fpsyt.2016.00011. eCollection 2016. PMID: 26903887; PMCID: PMC4746269.
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Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Human brain mapping

Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga JJ, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Monereo Sánchez J, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Reis Marques T, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van 't Ent D, van den Bree MBM, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GB, Wen W, Westlye LT, Wittfeld K, Zackai EH, Stefánsson K, Jacquemont S, Thompson PM, Bearden CE, Andreassen OA.
PMID: 33615640
Hum Brain Mapp. 2022 Jan;43(1):300-328. doi: 10.1002/hbm.25354. Epub 2021 Feb 21.

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral...

Cite
Sønderby IE, Ching CRK, Thomopoulos SI, et al. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Hum Brain Mapp. 2021;43(1):300-328doi: 10.1002/hbm.25354.
Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon-Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., Ayesa-Arriola, R., Bakker, G., Bassett, A. S., Boomsma, D. I., Bülow, R., Butcher, N. J., Calhoun, V. D., Caspers, S., Chow, E. W. C., Cichon, S., Ciufolini, S., Craig, M. C., Crespo-Facorro, B., Cunningham, A. C., Dale, A. M., Dazzan, P., de Zubicaray, G. I., Djurovic, S., Doherty, J. L., Donohoe, G., Draganski, B., Durdle, C. A., Ehrlich, S., Emanuel, B. S., Espeseth, T., Fisher, S. E., Ge, T., Glahn, D. C., Grabe, H. J., Gur, R. E., Gutman, B. A., Haavik, J., Håberg, A. K., Hansen, L. A., Hashimoto, R., Hibar, D. P., Holmes, A. J., Hottenga, J. J., Hulshoff Pol, H. E., Jalbrzikowski, M., Knowles, E. E. M., Kushan, L., Linden, D. E. J., Liu, J., Lundervold, A. J., Martin-Brevet, S., Martínez, K., Mather, K. A., Mathias, S. R., McDonald-McGinn, D. M., McRae, A. F., Medland, S. E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C. A., Mühleisen, T. W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C. S., Reis Marques, T., Repetto, G. M., Reymond, A., Roalf, D. R., Rodriguez-Herreros, B., Rucker, J. J., Sachdev, P. S., Schmitt, J. E., Schofield, P. R., Silva, A. I., Stefansson, H., Stein, D. J., Tamnes, C. K., Tordesillas-Gutiérrez, D., Ulfarsson, M. O., Vajdi, A., van 't Ent, D., van den Bree, M. B. M., Vassos, E., Vázquez-Bourgon, J., Vila-Rodriguez, F., Walters, G. B., Wen, W., Westlye, L. T., Wittfeld, K., Zackai, E. H., Stefánsson, K., Jacquemont, S., Thompson, P. M., Bearden, C. E., Andreassen, O. A. (2022). Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Human brain mapping, 43(1), 300-328. https://doi.org/10.1002/hbm.25354
Sønderby, Ida E, et al. "Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs." Human brain mapping vol. 43,1 (2022): 300-328. doi: https://doi.org/10.1002/hbm.25354
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga JJ, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Monereo Sánchez J, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Reis Marques T, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van 't Ent D, van den Bree MBM, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GB, Wen W, Westlye LT, Wittfeld K, Zackai EH, Stefánsson K, Jacquemont S, Thompson PM, Bearden CE, Andreassen OA. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Hum Brain Mapp. 2022 Jan;43(1):300-328. doi: 10.1002/hbm.25354. Epub 2021 Feb 21. PMID: 33615640; PMCID: PMC8675420.
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Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived .

Proceedings of the National Academy of Sciences of the United States of America

Pak C, Danko T, Mirabella VR, Wang J, Liu Y, Vangipuram M, Grieder S, Zhang X, Ward T, Huang YA, Jin K, Dexheimer P, Bardes E, Mitelpunkt A, Ma J, McLachlan M, Moore JC, Qu P, Purmann C, Dage JL, Swanson BJ, Urban AE, Aronow BJ, Pang ZP, Levinson DF, Wernig M, Südhof TC.
PMID: 34035170
Proc Natl Acad Sci U S A. 2021 Jun 01;118(22). doi: 10.1073/pnas.2025598118.

Heterozygous

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Pak C, Danko T, Mirabella VR, et al. Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived . Proc Natl Acad Sci U S A. 2021;118(22)doi: 10.1073/pnas.2025598118.
Pak, C., Danko, T., Mirabella, V. R., Wang, J., Liu, Y., Vangipuram, M., Grieder, S., Zhang, X., Ward, T., Huang, Y. A., Jin, K., Dexheimer, P., Bardes, E., Mitelpunkt, A., Ma, J., McLachlan, M., Moore, J. C., Qu, P., Purmann, C., Dage, J. L., Swanson, B. J., Urban, A. E., Aronow, B. J., Pang, Z. P., Levinson, D. F., Wernig, M., & Südhof, T. C. (2021). Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived . Proceedings of the National Academy of Sciences of the United States of America, 118(22), . https://doi.org/10.1073/pnas.2025598118
Pak, ChangHui, et al. "Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived ." Proceedings of the National Academy of Sciences of the United States of America vol. 118,22 (2021). doi: https://doi.org/10.1073/pnas.2025598118
Pak C, Danko T, Mirabella VR, Wang J, Liu Y, Vangipuram M, Grieder S, Zhang X, Ward T, Huang YA, Jin K, Dexheimer P, Bardes E, Mitelpunkt A, Ma J, McLachlan M, Moore JC, Qu P, Purmann C, Dage JL, Swanson BJ, Urban AE, Aronow BJ, Pang ZP, Levinson DF, Wernig M, Südhof TC. Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived . Proc Natl Acad Sci U S A. 2021 Jun 01;118(22). doi: 10.1073/pnas.2025598118. PMID: 34035170; PMCID: PMC8179243.
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New Jersey Center for Tourette Syndrome sharing repository: methods and sample description.

BMC medical genomics

Heiman GA, King RA, Tischfield JA.
PMID: 19036136
BMC Med Genomics. 2008 Nov 26;1:58. doi: 10.1186/1755-8794-1-58.

BACKGROUND: Tourette Syndrome is a neuropsychiatric disorder characterized by chronic motor and phonic tics. Affected individuals and their family members are at an increased risk for other neuropsychiatric conditions including obsessive-compulsive disorder and attention deficit hyperactivity disorder. While there...

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Heiman GA, King RA, Tischfield JA. New Jersey Center for Tourette Syndrome sharing repository: methods and sample description. BMC Med Genomics. 2008;1:58doi: 10.1186/1755-8794-1-58.
Heiman, G. A., King, R. A., & Tischfield, J. A. (2008). New Jersey Center for Tourette Syndrome sharing repository: methods and sample description. BMC medical genomics, 158. https://doi.org/10.1186/1755-8794-1-58
Heiman, Gary A, et al. "New Jersey Center for Tourette Syndrome sharing repository: methods and sample description." BMC medical genomics vol. 1 (2008): 58. doi: https://doi.org/10.1186/1755-8794-1-58
Heiman GA, King RA, Tischfield JA. New Jersey Center for Tourette Syndrome sharing repository: methods and sample description. BMC Med Genomics. 2008 Nov 26;1:58. doi: 10.1186/1755-8794-1-58. PMID: 19036136; PMCID: PMC2605751.
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Genetic analysis for a shared biological basis between migraine and coronary artery disease.

Neurology. Genetics

Winsvold BS, Nelson CP, Malik R, Gormley P, Anttila V, Vander Heiden J, Elliott KS, Jacobsen LM, Palta P, Amin N, de Vries B, Hämäläinen E, Freilinger T, Ikram MA, Kessler T, Koiranen M, Ligthart L, McMahon G, Pedersen LM, Willenborg C, Won HH, Olesen J, Artto V, Assimes TL, Blankenberg S, Boomsma DI, Cherkas L, Davey Smith G, Epstein SE, Erdmann J, Ferrari MD, Göbel H, Hall AS, Jarvelin MR, Kallela M, Kaprio J, Kathiresan S, Lehtimäki T, McPherson R, März W, Nyholt DR, O'Donnell CJ, Quaye L, Rader DJ, Raitakari O, Roberts R, Schunkert H, Schürks M, Stewart AF, Terwindt GM, Thorsteinsdottir U, van den Maagdenberg AM, van Duijn C, Wessman M, Kurth T, Kubisch C, Dichgans M, Chasman DI, Cotsapas C, Zwart JA, Samani NJ, Palotie A.
PMID: 27066539
Neurol Genet. 2015 Jul 02;1(1):e10. doi: 10.1212/NXG.0000000000000010. eCollection 2015 Jun.

OBJECTIVE: To apply genetic analysis of genome-wide association data to study the extent and nature of a shared biological basis between migraine and coronary artery disease (CAD).METHODS: Four separate methods for cross-phenotype genetic analysis were applied on data from...

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Winsvold BS, Nelson CP, Malik R, et al. Genetic analysis for a shared biological basis between migraine and coronary artery disease. Neurol Genet. 2015;1(1):e10doi: 10.1212/NXG.0000000000000010.
Winsvold, B. S., Nelson, C. P., Malik, R., Gormley, P., Anttila, V., Vander Heiden, J., Elliott, K. S., Jacobsen, L. M., Palta, P., Amin, N., de Vries, B., Hämäläinen, E., Freilinger, T., Ikram, M. A., Kessler, T., Koiranen, M., Ligthart, L., McMahon, G., Pedersen, L. M., Willenborg, C., Won, H. H., Olesen, J., Artto, V., Assimes, T. L., Blankenberg, S., Boomsma, D. I., Cherkas, L., Davey Smith, G., Epstein, S. E., Erdmann, J., Ferrari, M. D., Göbel, H., Hall, A. S., Jarvelin, M. R., Kallela, M., Kaprio, J., Kathiresan, S., Lehtimäki, T., McPherson, R., März, W., Nyholt, D. R., O'Donnell, C. J., Quaye, L., Rader, D. J., Raitakari, O., Roberts, R., Schunkert, H., Schürks, M., Stewart, A. F., Terwindt, G. M., Thorsteinsdottir, U., van den Maagdenberg, A. M., van Duijn, C., Wessman, M., Kurth, T., Kubisch, C., Dichgans, M., Chasman, D. I., Cotsapas, C., Zwart, J. A., Samani, N. J., Palotie, A. (2015). Genetic analysis for a shared biological basis between migraine and coronary artery disease. Neurology. Genetics, 1(1), e10. https://doi.org/10.1212/NXG.0000000000000010
Winsvold, Bendik S, et al. "Genetic analysis for a shared biological basis between migraine and coronary artery disease." Neurology. Genetics vol. 1,1 (2015): e10. doi: https://doi.org/10.1212/NXG.0000000000000010
Winsvold BS, Nelson CP, Malik R, Gormley P, Anttila V, Vander Heiden J, Elliott KS, Jacobsen LM, Palta P, Amin N, de Vries B, Hämäläinen E, Freilinger T, Ikram MA, Kessler T, Koiranen M, Ligthart L, McMahon G, Pedersen LM, Willenborg C, Won HH, Olesen J, Artto V, Assimes TL, Blankenberg S, Boomsma DI, Cherkas L, Davey Smith G, Epstein SE, Erdmann J, Ferrari MD, Göbel H, Hall AS, Jarvelin MR, Kallela M, Kaprio J, Kathiresan S, Lehtimäki T, McPherson R, März W, Nyholt DR, O'Donnell CJ, Quaye L, Rader DJ, Raitakari O, Roberts R, Schunkert H, Schürks M, Stewart AF, Terwindt GM, Thorsteinsdottir U, van den Maagdenberg AM, van Duijn C, Wessman M, Kurth T, Kubisch C, Dichgans M, Chasman DI, Cotsapas C, Zwart JA, Samani NJ, Palotie A. Genetic analysis for a shared biological basis between migraine and coronary artery disease. Neurol Genet. 2015 Jul 02;1(1):e10. doi: 10.1212/NXG.0000000000000010. eCollection 2015 Jun. PMID: 27066539; PMCID: PMC4821079.
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Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Molecular psychiatry

Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J.
PMID: 33837273
Mol Psychiatry. 2021 Apr 09; doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09.

Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not...

Cite
Cao X, Zhang Y, Abdulkadir M, et al. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021;doi: 10.1038/s41380-021-01094-1.
Cao, X., Zhang, Y., Abdulkadir, M., Deng, L., Fernandez, T. V., Garcia-Delgar, B., Hagstrøm, J., Hoekstra, P. J., King, R. A., Koesterich, J., Kuperman, S., Morer, A., Nasello, C., Plessen, K. J., Thackray, J. K., Zhou, L., Dietrich, A., Tischfield, J. A., Heiman, G. A., & Xing, J. (2021). Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Molecular psychiatry, . https://doi.org/10.1038/s41380-021-01094-1
Cao, Xiaolong, et al. "Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families." Molecular psychiatry vol. (2021). doi: https://doi.org/10.1038/s41380-021-01094-1
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021 Apr 09; doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09. PMID: 33837273; PMCID: PMC8501157.
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Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Molecular psychiatry

Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J.
PMID: 33837273
Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09.

Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not...

Cite
Cao X, Zhang Y, Abdulkadir M, et al. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021;26(11):6937-6951doi: 10.1038/s41380-021-01094-1.
Cao, X., Zhang, Y., Abdulkadir, M., Deng, L., Fernandez, T. V., Garcia-Delgar, B., Hagstrøm, J., Hoekstra, P. J., King, R. A., Koesterich, J., Kuperman, S., Morer, A., Nasello, C., Plessen, K. J., Thackray, J. K., Zhou, L., Dietrich, A., Tischfield, J. A., Heiman, G. A., & Xing, J. (2021). Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Molecular psychiatry, 26(11), 6937-6951. https://doi.org/10.1038/s41380-021-01094-1
Cao, Xiaolong, et al. "Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families." Molecular psychiatry vol. 26,11 (2021): 6937-6951. doi: https://doi.org/10.1038/s41380-021-01094-1
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09. PMID: 33837273; PMCID: PMC8501157.
Copy Download .nbib Format: NLM
Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Molecular psychiatry

Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J.
PMID: 33837273
Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09.

Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not...

Cite
Cao X, Zhang Y, Abdulkadir M, et al. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021;26(11):6937-6951doi: 10.1038/s41380-021-01094-1.
Cao, X., Zhang, Y., Abdulkadir, M., Deng, L., Fernandez, T. V., Garcia-Delgar, B., Hagstrøm, J., Hoekstra, P. J., King, R. A., Koesterich, J., Kuperman, S., Morer, A., Nasello, C., Plessen, K. J., Thackray, J. K., Zhou, L., Dietrich, A., Tischfield, J. A., Heiman, G. A., & Xing, J. (2021). Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Molecular psychiatry, 26(11), 6937-6951. https://doi.org/10.1038/s41380-021-01094-1
Cao, Xiaolong, et al. "Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families." Molecular psychiatry vol. 26,11 (2021): 6937-6951. doi: https://doi.org/10.1038/s41380-021-01094-1
Cao X, Zhang Y, Abdulkadir M, Deng L, Fernandez TV, Garcia-Delgar B, Hagstrøm J, Hoekstra PJ, King RA, Koesterich J, Kuperman S, Morer A, Nasello C, Plessen KJ, Thackray JK, Zhou L, Dietrich A, Tischfield JA, Heiman GA, Xing J. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 09. PMID: 33837273; PMCID: PMC8501157.
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