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Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.

Communications biology

Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H.
PMID: 34302048
Commun Biol. 2021 Jul 23;4(1):908. doi: 10.1038/s42003-021-02368-8.

Type 1 diabetes (T1D) patients with low genetic risk scores (GRS) may be non-autoimmune or autoimmune mediated by other genetic loci. The T1D-GRS2 provides us an opportunity to look into the genetic architecture of these patients. A total of...

Cite
Qu HQ, Qu J, Bradfield J, et al. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol. 2021;4(1):908doi: 10.1038/s42003-021-02368-8.
Qu, H. Q., Qu, J., Bradfield, J., Marchand, L., Glessner, J., Chang, X., March, M., Li, J., Connolly, J. J., Roizen, J. D., Sleiman, P., Polychronakos, C., & Hakonarson, H. (2021). Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Communications biology, 4(1), 908. https://doi.org/10.1038/s42003-021-02368-8
Qu, Hui-Qi, et al. "Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci." Communications biology vol. 4,1 (2021): 908. doi: https://doi.org/10.1038/s42003-021-02368-8
Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol. 2021 Jul 23;4(1):908. doi: 10.1038/s42003-021-02368-8. PMID: 34302048; PMCID: PMC8302754.
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MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.

BMC genomics

Glessner JT, Chang X, Liu Y, Li J, Khan M, Wei Z, Sleiman PMA, Hakonarson H.
PMID: 33627065
BMC Genomics. 2021 Feb 24;22(1):133. doi: 10.1186/s12864-021-07395-7.

BACKGROUND: Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual. Mosaicism is a prevalent and...

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Glessner JT, Chang X, Liu Y, et al. MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC Genomics. 2021;22(1):133doi: 10.1186/s12864-021-07395-7.
Glessner, J. T., Chang, X., Liu, Y., Li, J., Khan, M., Wei, Z., Sleiman, P. M. A., & Hakonarson, H. (2021). MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC genomics, 22(1), 133. https://doi.org/10.1186/s12864-021-07395-7
Glessner, Joseph T, et al. "MONTAGE: a new tool for high-throughput detection of mosaic copy number variation." BMC genomics vol. 22,1 (2021): 133. doi: https://doi.org/10.1186/s12864-021-07395-7
Glessner JT, Chang X, Liu Y, Li J, Khan M, Wei Z, Sleiman PMA, Hakonarson H. MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC Genomics. 2021 Feb 24;22(1):133. doi: 10.1186/s12864-021-07395-7. PMID: 33627065; PMCID: PMC7905641.
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The power of genetic diversity in genome-wide association studies of lipids.

Nature

Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, Willer CJ.
PMID: 34887591
Nature. 2021 Dec;600(7890):675-679. doi: 10.1038/s41586-021-04064-3. Epub 2021 Dec 09.

Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use

Cite
Graham SE, Clarke SL, Wu KH, et al. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021;600(7890):675-679doi: 10.1038/s41586-021-04064-3.
Graham, S. E., Clarke, S. L., Wu, K. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Hwang, M. Y., Han, S., Narita, A., Choudhury, A., Bentley, A. R., Ekoru, K., Verma, A., Trivedi, B., Martin, H. C., Hunt, K. A., Hui, Q., Klarin, D., Zhu, X., Thorleifsson, G., Helgadottir, A., Gudbjartsson, D. F., Holm, H., Olafsson, I., Akiyama, M., Sakaue, S., Terao, C., Kanai, M., Zhou, W., Brumpton, B. M., Rasheed, H., Ruotsalainen, S. E., Havulinna, A. S., Veturi, Y., Feng, Q., Rosenthal, E. A., Lingren, T., Pacheco, J. A., Pendergrass, S. A., Haessler, J., Giulianini, F., Bradford, Y., Miller, J. E., Campbell, A., Lin, K., Millwood, I. Y., Hindy, G., Rasheed, A., Faul, J. D., Zhao, W., Weir, D. R., Turman, C., Huang, H., Graff, M., Mahajan, A., Brown, M. R., Zhang, W., Yu, K., Schmidt, E. M., Pandit, A., Gustafsson, S., Yin, X., Luan, J., Zhao, J. H., Matsuda, F., Jang, H. M., Yoon, K., Medina-Gomez, C., Pitsillides, A., Hottenga, J. J., Willemsen, G., Wood, A. R., Ji, Y., Gao, Z., Haworth, S., Mitchell, R. E., Chai, J. F., Aadahl, M., Yao, J., Manichaikul, A., Warren, H. R., Ramirez, J., Bork-Jensen, J., Kårhus, L. L., Goel, A., Sabater-Lleal, M., Noordam, R., Sidore, C., Fiorillo, E., McDaid, A. F., Marques-Vidal, P., Wielscher, M., Trompet, S., Sattar, N., Møllehave, L. T., Thuesen, B. H., Munz, M., Zeng, L., Huang, J., Yang, B., Poveda, A., Kurbasic, A., Lamina, C., Forer, L., Scholz, M., Galesloot, T. E., Bradfield, J. P., Daw, E. W., Zmuda, J. M., Mitchell, J. S., Fuchsberger, C., Christensen, H., Brody, J. A., Feitosa, M. F., Wojczynski, M. K., Preuss, M., Mangino, M., Christofidou, P., Verweij, N., Benjamins, J. W., Engmann, J., Kember, R. L., Slieker, R. C., Lo, K. S., Zilhao, N. R., Le, P., Kleber, M. E., Delgado, G. E., Huo, S., Ikeda, D. D., Iha, H., Yang, J., Liu, J., Leonard, H. L., Marten, J., Schmidt, B., Arendt, M., Smyth, L. J., Cañadas-Garre, M., Wang, C., Nakatochi, M., Wong, A., Hutri-Kähönen, N., Sim, X., Xia, R., Huerta-Chagoya, A., Fernandez-Lopez, J. C., Lyssenko, V., Ahmed, M., Jackson, A. U., Irvin, M. R., Oldmeadow, C., Kim, H. N., Ryu, S., Timmers, P. R. H. J., Arbeeva, L., Dorajoo, R., Lange, L. A., Chai, X., Prasad, G., Lorés-Motta, L., Pauper, M., Long, J., Li, X., Theusch, E., Takeuchi, F., Spracklen, C. N., Loukola, A., Bollepalli, S., Warner, S. C., Wang, Y. X., Wei, W. B., Nutile, T., Ruggiero, D., Sung, Y. J., Hung, Y. J., Chen, S., Liu, F., Yang, J., Kentistou, K. A., Gorski, M., Brumat, M., Meidtner, K., Bielak, L. F., Smith, J. A., Hebbar, P., Farmaki, A. E., Hofer, E., Lin, M., Xue, C., Zhang, J., Concas, M. P., Vaccargiu, S., van der Most, P. J., Pitkänen, N., Cade, B. E., Lee, J., van der Laan, S. W., Chitrala, K. N., Weiss, S., Zimmermann, M. E., Lee, J. Y., Choi, H. S., Nethander, M., Freitag-Wolf, S., Southam, L., Rayner, N. W., Wang, C. A., Lin, S. Y., Wang, J. S., Couture, C., Lyytikäinen, L. P., Nikus, K., Cuellar-Partida, G., Vestergaard, H., Hildalgo, B., Giannakopoulou, O., Cai, Q., Obura, M. O., van Setten, J., Li, X., Schwander, K., Terzikhan, N., Shin, J. H., Jackson, R. D., Reiner, A. P., Martin, L. W., Chen, Z., Li, L., Highland, H. M., Young, K. L., Kawaguchi, T., Thiery, J., Bis, J. C., Nadkarni, G. N., Launer, L. J., Li, H., Nalls, M. A., Raitakari, O. T., Ichihara, S., Wild, S. H., Nelson, C. P., Campbell, H., Jäger, S., Nabika, T., Al-Mulla, F., Niinikoski, H., Braund, P. S., Kolcic, I., Kovacs, P., Giardoglou, T., Katsuya, T., Bhatti, K. F., de Kleijn, D., de Borst, G. J., Kim, E. K., Adams, H. H. H., Ikram, M. A., Zhu, X., Asselbergs, F. W., Kraaijeveld, A. O., Beulens, J. W. J., Shu, X. O., Rallidis, L. S., Pedersen, O., Hansen, T., Mitchell, P., Hewitt, A. W., Kähönen, M., Pérusse, L., Bouchard, C., Tönjes, A., Chen, Y. I., Pennell, C. E., Mori, T. A., Lieb, W., Franke, A., Ohlsson, C., Mellström, D., Cho, Y. S., Lee, H., Yuan, J. M., Koh, W. P., Rhee, S. Y., Woo, J. T., Heid, I. M., Stark, K. J., Völzke, H., Homuth, G., Evans, M. K., Zonderman, A. B., Polasek, O., Pasterkamp, G., Hoefer, I. E., Redline, S., Pahkala, K., Oldehinkel, A. J., Snieder, H., Biino, G., Schmidt, R., Schmidt, H., Chen, Y. E., Bandinelli, S., Dedoussis, G., Thanaraj, T. A., Kardia, S. L. R., Kato, N., Schulze, M. B., Girotto, G., Jung, B., Böger, C. A., Joshi, P. K., Bennett, D. A., De Jager, P. L., Lu, X., Mamakou, V., Brown, M., Caulfield, M. J., Munroe, P. B., Guo, X., Ciullo, M., Jonas, J. B., Samani, N. J., Kaprio, J., Pajukanta, P., Adair, L. S., Bechayda, S. A., de Silva, H. J., Wickremasinghe, A. R., Krauss, R. M., Wu, J. Y., Zheng, W., den Hollander, A. I., Bharadwaj, D., Correa, A., Wilson, J. G., Lind, L., Heng, C. K., Nelson, A. E., Golightly, Y. M., Wilson, J. F., Penninx, B., Kim, H. L., Attia, J., Scott, R. J., Rao, D. C., Arnett, D. K., Walker, M., Koistinen, H. A., Chandak, G. R., Yajnik, C. S., Mercader, J. M., Tusié-Luna, T., Aguilar-Salinas, C. A., Villalpando, C. G., Orozco, L., Fornage, M., Tai, E. S., van Dam, R. M., Lehtimäki, T., Chaturvedi, N., Yokota, M., Liu, J., Reilly, D. F., McKnight, A. J., Kee, F., Jöckel, K. H., McCarthy, M. I., Palmer, C. N. A., Vitart, V., Hayward, C., Simonsick, E., van Duijn, C. M., Lu, F., Qu, J., Hishigaki, H., Lin, X., März, W., Parra, E. J., Cruz, M., Gudnason, V., Tardif, J. C., Lettre, G., 't Hart, L. M., Elders, P. J. M., Damrauer, S. M., Kumari, M., Kivimaki, M., van der Harst, P., Spector, T. D., Loos, R. J. F., Province, M. A., Psaty, B. M., Brandslund, I., Pramstaller, P. P., Christensen, K., Ripatti, S., Widén, E., Hakonarson, H., Grant, S. F. A., Kiemeney, L. A. L. M., de Graaf, J., Loeffler, M., Kronenberg, F., Gu, D., Erdmann, J., Schunkert, H., Franks, P. W., Linneberg, A., Jukema, J. W., Khera, A. V., Männikkö, M., Jarvelin, M. R., Kutalik, Z., Cucca, F., Mook-Kanamori, D. O., van Dijk, K. W., Watkins, H., Strachan, D. P., Grarup, N., Sever, P., Poulter, N., Rotter, J. I., Dantoft, T. M., Karpe, F., Neville, M. J., Timpson, N. J., Cheng, C. Y., Wong, T. Y., Khor, C. C., Sabanayagam, C., Peters, A., Gieger, C., Hattersley, A. T., Pedersen, N. L., Magnusson, P. K. E., Boomsma, D. I., de Geus, E. J. C., Cupples, L. A., van Meurs, J. B. J., Ghanbari, M., Gordon-Larsen, P., Huang, W., Kim, Y. J., Tabara, Y., Wareham, N. J., Langenberg, C., Zeggini, E., Kuusisto, J., Laakso, M., Ingelsson, E., Abecasis, G., Chambers, J. C., Kooner, J. S., de Vries, P. S., Morrison, A. C., North, K. E., Daviglus, M., Kraft, P., Martin, N. G., Whitfield, J. B., Abbas, S., Saleheen, D., Walters, R. G., Holmes, M. V., Black, C., Smith, B. H., Justice, A. E., Baras, A., Buring, J. E., Ridker, P. M., Chasman, D. I., Kooperberg, C., Wei, W. Q., Jarvik, G. P., Namjou, B., Hayes, M. G., Ritchie, M. D., Jousilahti, P., Salomaa, V., Hveem, K., Åsvold, B. O., Kubo, M., Kamatani, Y., Okada, Y., Murakami, Y., Thorsteinsdottir, U., Stefansson, K., Ho, Y. L., Lynch, J. A., Rader, D. J., Tsao, P. S., Chang, K. M., Cho, K., O'Donnell, C. J., Gaziano, J. M., Wilson, P., Rotimi, C. N., Hazelhurst, S., Ramsay, M., Trembath, R. C., van Heel, D. A., Tamiya, G., Yamamoto, M., Kim, B. J., Mohlke, K. L., Frayling, T. M., Hirschhorn, J. N., Kathiresan, S., Boehnke, M., Natarajan, P., Peloso, G. M., Brown, C. D., Morris, A. P., Assimes, T. L., Deloukas, P., Sun, Y. V., & Willer, C. J. (2021). The power of genetic diversity in genome-wide association studies of lipids. Nature, 600(7890), 675-679. https://doi.org/10.1038/s41586-021-04064-3
Graham, Sarah E, et al. "The power of genetic diversity in genome-wide association studies of lipids." Nature vol. 600,7890 (2021): 675-679. doi: https://doi.org/10.1038/s41586-021-04064-3
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, Willer CJ. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021 Dec;600(7890):675-679. doi: 10.1038/s41586-021-04064-3. Epub 2021 Dec 09. PMID: 34887591.
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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

American journal of medical genetics. Part A

Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H.
PMID: 33960657
Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 07.

Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also...

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Strong A, O'Grady G, Shih E, et al. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Am J Med Genet A. 2021;185(7):2168-2174doi: 10.1002/ajmg.a.62215.
Strong, A., O'Grady, G., Shih, E., Bishop, J. R., Loomes, K., Diamond, T., Hartung, E. A., Wong, W., Cuddapah, S., Cahill, A. M., Hou, C., Slater, D., Vaccaro, C., Watson, D., Li, D., & Hakonarson, H. (2021). A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. American journal of medical genetics. Part A, 185(7), 2168-2174. https://doi.org/10.1002/ajmg.a.62215
Strong, Alanna, et al. "A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213." American journal of medical genetics. Part A vol. 185,7 (2021): 2168-2174. doi: https://doi.org/10.1002/ajmg.a.62215
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 07. PMID: 33960657; PMCID: PMC8360119.
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Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

Frontiers in genetics

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H.
PMID: 31552105
Front Genet. 2019 Sep 10;10:819. doi: 10.3389/fgene.2019.00819. eCollection 2019.

Congenital heart defects (CHDs) are a common birth defect, affecting approximately 1% of newborn children in the United States. As previously reported, a significant number of CHDs are potentially attributed to altered copy number variants (CNVs). However, as many...

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Liu Y, Chang X, Glessner J, et al. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Front Genet. 2019;10:819doi: 10.3389/fgene.2019.00819.
Liu, Y., Chang, X., Glessner, J., Qu, H., Tian, L., Li, D., Nguyen, K., Sleiman, P. M. A., & Hakonarson, H. (2019). Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Frontiers in genetics, 10819. https://doi.org/10.3389/fgene.2019.00819
Liu, Yichuan, et al. "Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios." Frontiers in genetics vol. 10 (2019): 819. doi: https://doi.org/10.3389/fgene.2019.00819
Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Front Genet. 2019 Sep 10;10:819. doi: 10.3389/fgene.2019.00819. eCollection 2019. PMID: 31552105; PMCID: PMC6746959.
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Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual.

Genome biology

Cousminer DL, Wagley Y, Pippin JA, Elhakeem A, Way GP, Pahl MC, McCormack SE, Chesi A, Mitchell JA, Kindler JM, Baird D, Hartley A, Howe L, Kalkwarf HJ, Lappe JM, Lu S, Leonard ME, Johnson ME, Hakonarson H, Gilsanz V, Shepherd JA, Oberfield SE, Greene CS, Kelly A, Lawlor DA, Voight BF, Wells AD, Zemel BS, Hankenson KD, Grant SFA.
PMID: 33397451
Genome Biol. 2021 Jan 04;22(1):1. doi: 10.1186/s13059-020-02207-9.

BACKGROUND: Bone accrual impacts lifelong skeletal health, but genetic discovery has been primarily limited to cross-sectional study designs and hampered by uncertainty about target effector genes. Here, we capture this dynamic phenotype by modeling longitudinal bone accrual across 11,000...

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Cousminer DL, Wagley Y, Pippin JA, et al. Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual. Genome Biol. 2021;22(1):1doi: 10.1186/s13059-020-02207-9.
Cousminer, D. L., Wagley, Y., Pippin, J. A., Elhakeem, A., Way, G. P., Pahl, M. C., McCormack, S. E., Chesi, A., Mitchell, J. A., Kindler, J. M., Baird, D., Hartley, A., Howe, L., Kalkwarf, H. J., Lappe, J. M., Lu, S., Leonard, M. E., Johnson, M. E., Hakonarson, H., Gilsanz, V., Shepherd, J. A., Oberfield, S. E., Greene, C. S., Kelly, A., Lawlor, D. A., Voight, B. F., Wells, A. D., Zemel, B. S., Hankenson, K. D., & Grant, S. F. A. (2021). Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual. Genome biology, 22(1), 1. https://doi.org/10.1186/s13059-020-02207-9
Cousminer, Diana L, et al. "Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual." Genome biology vol. 22,1 (2021): 1. doi: https://doi.org/10.1186/s13059-020-02207-9
Cousminer DL, Wagley Y, Pippin JA, Elhakeem A, Way GP, Pahl MC, McCormack SE, Chesi A, Mitchell JA, Kindler JM, Baird D, Hartley A, Howe L, Kalkwarf HJ, Lappe JM, Lu S, Leonard ME, Johnson ME, Hakonarson H, Gilsanz V, Shepherd JA, Oberfield SE, Greene CS, Kelly A, Lawlor DA, Voight BF, Wells AD, Zemel BS, Hankenson KD, Grant SFA. Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual. Genome Biol. 2021 Jan 04;22(1):1. doi: 10.1186/s13059-020-02207-9. PMID: 33397451; PMCID: PMC7780623.
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Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.

Circulation

Glazer AM, Davogustto GE, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger E, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, Denny J, Wei WQ, George A, Shoemaker MB, Roden DM.
PMID: 34930020
Circulation. 2021 Dec 21; doi: 10.1161/CIRCULATIONAHA.121.055562. Epub 2021 Dec 21.

No abstract available.

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Glazer AM, Davogustto GE, Shaffer CM, et al. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2021;doi: 10.1161/CIRCULATIONAHA.121.055562.
Glazer, A. M., Davogustto, G. E., Shaffer, C. M., Vanoye, C. G., Desai, R. R., Farber-Eger, E., Dikilitas, O., Shang, N., Pacheco, J. A., Yang, T., Muhammad, A., Mosley, J. D., Van Driest, S. L., Wells, Q. S., Shaffer, L. L., Kalash, O. R., Wada, Y., Bland, S., Yoneda, Z. T., Mitchell, D. W., Kroncke, B. M., Kullo, I. J., Jarvik, G. P., Gordon, A. S., Larson, E. B., Manolio, T. A., Mirshahi, T., Luo, J. Z., Schaid, D., Namjou, B., Alsaied, T., Singh, R., Singhal, A., Liu, C., Weng, C., Hripcsak, G., Ralston, J. D., McNally, E. M., Chung, W. K., Carrell, D. S., Leppig, K. A., Hakonarson, H., Sleiman, P., Sohn, S., Glessner, J., Denny, J., Wei, W. Q., George, A., Shoemaker, M. B., Roden, D. M. (2021). Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation, . https://doi.org/10.1161/CIRCULATIONAHA.121.055562
Glazer, Andrew M, et al. "Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study." Circulation vol. (2021). doi: https://doi.org/10.1161/CIRCULATIONAHA.121.055562
Glazer AM, Davogustto GE, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger E, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, Denny J, Wei WQ, George A, Shoemaker MB, Roden DM. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2021 Dec 21; doi: 10.1161/CIRCULATIONAHA.121.055562. Epub 2021 Dec 21. PMID: 34930020.
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Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease.

Pharmacogenetics and genomics

De T, Zhang H, Alarcon C, Lec B, Avitia J, Smithberger E, Chen C, Horvath M, Kwan S, Young M, Adhikari S, Kwon J, Pacheco J, Jarvik G, Wei WQ, Mentch F, Hakonarson H, Sleiman P, Gordon A, Harley J, Linneman J, Hebbring S, Parisiadou L, Perera MA.
PMID: 34380996
Pharmacogenet Genomics. 2022 Jan 01;32(1):1-9. doi: 10.1097/FPC.0000000000000445.

OBJECTIVES: Primary nonresponse (PNR) to antitumor necrosis factor-α (TNFα) biologics is a serious concern in patients with inflammatory bowel disease (IBD). We aimed to identify the genetic variants associated with PNR.PATIENTS AND METHODS: Patients were recruited from outpatient GI...

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De T, Zhang H, Alarcon C, et al. Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease. Pharmacogenet Genomics. 2022;32(1):1-9doi: 10.1097/FPC.0000000000000445.
De, T., Zhang, H., Alarcon, C., Lec, B., Avitia, J., Smithberger, E., Chen, C., Horvath, M., Kwan, S., Young, M., Adhikari, S., Kwon, J., Pacheco, J., Jarvik, G., Wei, W. Q., Mentch, F., Hakonarson, H., Sleiman, P., Gordon, A., Harley, J., Linneman, J., Hebbring, S., Parisiadou, L., & Perera, M. A. (2022). Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease. Pharmacogenetics and genomics, 32(1), 1-9. https://doi.org/10.1097/FPC.0000000000000445
De, Tanima, et al. "Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease." Pharmacogenetics and genomics vol. 32,1 (2022): 1-9. doi: https://doi.org/10.1097/FPC.0000000000000445
De T, Zhang H, Alarcon C, Lec B, Avitia J, Smithberger E, Chen C, Horvath M, Kwan S, Young M, Adhikari S, Kwon J, Pacheco J, Jarvik G, Wei WQ, Mentch F, Hakonarson H, Sleiman P, Gordon A, Harley J, Linneman J, Hebbring S, Parisiadou L, Perera MA. Genetic association of primary nonresponse to anti-TNFα therapy in patients with inflammatory bowel disease. Pharmacogenet Genomics. 2022 Jan 01;32(1):1-9. doi: 10.1097/FPC.0000000000000445. PMID: 34380996; PMCID: PMC8578201.
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.
PMID: 31417202
Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Cite
Kunkle BW, Grenier-Boley B, Sims R, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019;51(9):1423-1424doi: 10.1038/s41588-019-0495-7.
Kunkle, B. W., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., Boland, A., Vronskaya, M., van der Lee, S. J., Amlie-Wolf, A., Bellenguez, C., Frizatti, A., Chouraki, V., Martin, E. R., Sleegers, K., Badarinarayan, N., Jakobsdottir, J., Hamilton-Nelson, K. L., Moreno-Grau, S., Olaso, R., Raybould, R., Chen, Y., Kuzma, A. B., Hiltunen, M., Morgan, T., Ahmad, S., Vardarajan, B. N., Epelbaum, J., Hoffmann, P., Boada, M., Beecham, G. W., Garnier, J. G., Harold, D., Fitzpatrick, A. L., Valladares, O., Moutet, M. L., Gerrish, A., Smith, A. V., Qu, L., Bacq, D., Denning, N., Jian, X., Zhao, Y., Del Zompo, M., Fox, N. C., Choi, S. H., Mateo, I., Hughes, J. T., Adams, H. H., Malamon, J., Sanchez-Garcia, F., Patel, Y., Brody, J. A., Dombroski, B. A., Naranjo, M. C. D., Daniilidou, M., Eiriksdottir, G., Mukherjee, S., Wallon, D., Uphill, J., Aspelund, T., Cantwell, L. B., Garzia, F., Galimberti, D., Hofer, E., Butkiewicz, M., Fin, B., Scarpini, E., Sarnowski, C., Bush, W. S., Meslage, S., Kornhuber, J., White, C. C., Song, Y., Barber, R. C., Engelborghs, S., Sordon, S., Voijnovic, D., Adams, P. M., Vandenberghe, R., Mayhaus, M., Cupples, L. A., Albert, M. S., De Deyn, P. P., Gu, W., Himali, J. J., Beekly, D., Squassina, A., Hartmann, A. M., Orellana, A., Blacker, D., Rodriguez-Rodriguez, E., Lovestone, S., Garcia, M. E., Doody, R. S., Munoz-Fernadez, C., Sussams, R., Lin, H., Fairchild, T. J., Benito, Y. A., Holmes, C., Karamujić-Čomić, H., Frosch, M. P., Thonberg, H., Maier, W., Roshchupkin, G., Ghetti, B., Giedraitis, V., Kawalia, A., Li, S., Huebinger, R. M., Kilander, L., Moebus, S., Hernández, I., Kamboh, M. I., Brundin, R., Turton, J., Yang, Q., Katz, M. J., Concari, L., Lord, J., Beiser, A. S., Keene, C. D., Helisalmi, S., Kloszewska, I., Kukull, W. A., Koivisto, A. M., Lynch, A., Tarraga, L., Larson, E. B., Haapasalo, A., Lawlor, B., Mosley, T. H., Lipton, R. B., Solfrizzi, V., Gill, M., Longstreth, W. T., Montine, T. J., Frisardi, V., Diez-Fairen, M., Rivadeneira, F., Petersen, R. C., Deramecourt, V., Alvarez, I., Salani, F., Ciaramella, A., Boerwinkle, E., Reiman, E. M., Fievet, N., Rotter, J. I., Reisch, J. S., Hanon, O., Cupidi, C., Uitterlinden, A. G. A., Royall, D. R., Dufouil, C., Maletta, R. G., de Rojas, I., Sano, M., Brice, A., Cecchetti, R., George-Hyslop, P. S., Ritchie, K., Tsolaki, M., Tsuang, D. W., Dubois, B., Craig, D., Wu, C. K., Soininen, H., Avramidou, D., Albin, R. L., Fratiglioni, L., Germanou, A., Apostolova, L. G., Keller, L., Koutroumani, M., Arnold, S. E., Panza, F., Gkatzima, O., Asthana, S., Hannequin, D., Whitehead, P., Atwood, C. S., Caffarra, P., Hampel, H., Quintela, I., Carracedo, �. �., Lannfelt, L., Rubinsztein, D. C., Barnes, L. L., Pasquier, F., Frölich, L., Barral, S., McGuinness, B., Beach, T. G., Johnston, J. A., Becker, J. T., Passmore, P., Bigio, E. H., Schott, J. M., Bird, T. D., Warren, J. D., Boeve, B. F., Lupton, M. K., Bowen, J. D., Proitsi, P., Boxer, A., Powell, J. F., Burke, J. R., Kauwe, J. S. K., Burns, J. M., Mancuso, M., Buxbaum, J. D., Bonuccelli, U., Cairns, N. J., McQuillin, A., Cao, C., Livingston, G., Carlson, C. S., Bass, N. J., Carlsson, C. M., Hardy, J., Carney, R. M., Bras, J., Carrasquillo, M. M., Guerreiro, R., Allen, M., Chui, H. C., Fisher, E., Masullo, C., Crocco, E. A., DeCarli, C., Bisceglio, G., Dick, M., Ma, L., Duara, R., Graff-Radford, N. R., Evans, D. A., Hodges, A., Faber, K. M., Scherer, M., Fallon, K. B., Riemenschneider, M., Fardo, D. W., Heun, R., Farlow, M. R., Kölsch, H., Ferris, S., Leber, M., Foroud, T. M., Heuser, I., Galasko, D. R., Giegling, I., Gearing, M., Hüll, M., Geschwind, D. H., Gilbert, J. R., Morris, J., Green, R. C., Mayo, K., Growdon, J. H., Feulner, T., Hamilton, R. L., Harrell, L. E., Drichel, D., Honig, L. S., Cushion, T. D., Huentelman, M. J., Hollingworth, P., Hulette, C. M., Hyman, B. T., Marshall, R., Jarvik, G. P., Meggy, A., Abner, E., Menzies, G. E., Jin, L. W., Leonenko, G., Real, L. M., Jun, G. R., Baldwin, C. T., Grozeva, D., Karydas, A., Russo, G., Kaye, J. A., Kim, R., Jessen, F., Kowall, N. W., Vellas, B., Kramer, J. H., Vardy, E., LaFerla, F. M., Jöckel, K. H., Lah, J. J., Dichgans, M., Leverenz, J. B., Mann, D., Levey, A. I., Pickering-Brown, S., Lieberman, A. P., Klopp, N., Lunetta, K. L., Wichmann, H. E., Lyketsos, C. G., Morgan, K., Marson, D. C., Brown, K., Martiniuk, F., Medway, C., Mash, D. C., Nöthen, M. M., Masliah, E., Hooper, N. M., McCormick, W. C., Daniele, A., McCurry, S. M., Bayer, A., McDavid, A. N., Gallacher, J., McKee, A. C., van den Bussche, H., Mesulam, M., Brayne, C., Miller, B. L., Riedel-Heller, S., Miller, C. A., Miller, J. W., Al-Chalabi, A., Morris, J. C., Shaw, C. E., Myers, A. J., Wiltfang, J., O'Bryant, S., Olichney, J. M., Alvarez, V., Parisi, J. E., Singleton, A. B., Paulson, H. L., Collinge, J., Perry, W. R., Mead, S., Peskind, E., Cribbs, D. H., Rossor, M., Pierce, A., Ryan, N. S., Poon, W. W., Nacmias, B., Potter, H., Sorbi, S., Quinn, J. F., Sacchinelli, E., Raj, A., Spalletta, G., Raskind, M., Caltagirone, C., Bossù, P., Orfei, M. D., Reisberg, B., Clarke, R., Reitz, C., Smith, A. D., Ringman, J. M., Warden, D., Roberson, E. D., Wilcock, G., Rogaeva, E., Bruni, A. C., Rosen, H. J., Gallo, M., Rosenberg, R. N., Ben-Shlomo, Y., Sager, M. A., Mecocci, P., Saykin, A. J., Pastor, P., Cuccaro, M. L., Vance, J. M., Schneider, J. A., Schneider, L. S., Slifer, S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tang, M., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Saba, Y., Pilotto, A., Bullido, M. J., Peters, O., Crane, P. K., Bennett, D., Bosco, P., Coto, E., Boccardi, V., De Jager, P. L., Lleo, A., Warner, N., Lopez, O. L., Ingelsson, M., Deloukas, P., Cruchaga, C., Graff, C., Gwilliam, R., Fornage, M., Goate, A. M., Sanchez-Juan, P., Kehoe, P. G., Amin, N., Ertekin-Taner, N., Berr, C., Debette, S., Love, S., Launer, L. J., Younkin, S. G., Dartigues, J. F., Corcoran, C., Ikram, M. A., Dickson, D. W., Nicolas, G., Campion, D., Tschanz, J., Schmidt, H., Hakonarson, H., Clarimon, J., Munger, R., Schmidt, R., Farrer, L. A., Van Broeckhoven, C., O'Donovan, M. C., DeStefano, A. L., Jones, L., Haines, J. L., Deleuze, J. F., Owen, M. J., Gudnason, V., Mayeux, R., Escott-Price, V., Psaty, B. M., Ramirez, A., Wang, L. S., Ruiz, A., van Duijn, C. M., Holmans, P. A., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Lambert, J. C., & Pericak-Vance, M. A. (2019). Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature genetics, 51(9), 1423-1424. https://doi.org/10.1038/s41588-019-0495-7
Kunkle, Brian W, et al. "Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing." Nature genetics vol. 51,9 (2019): 1423-1424. doi: https://doi.org/10.1038/s41588-019-0495-7
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7. PMID: 31417202; PMCID: PMC7265117.
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Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis.

Frontiers in genetics

Zhang J, Wei Z, Cardinale CJ, Gusareva ES, Van Steen K, Sleiman P, Hakonarson H.
PMID: 31001315
Front Genet. 2019 Apr 03;10:257. doi: 10.3389/fgene.2019.00257. eCollection 2019.

Successful searching for epistasis is much challenging, which generally requires very large sample sizes and/or very dense marker information. We exploited the largest Crohn's disease (CD) dataset (18,000 cases + 34,000 controls) and ulcerative colitis (UC) dataset (14,000 cases...

Cite
Zhang J, Wei Z, Cardinale CJ, et al. Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis. Front Genet. 2019;10:257doi: 10.3389/fgene.2019.00257.
Zhang, J., Wei, Z., Cardinale, C. J., Gusareva, E. S., Van Steen, K., Sleiman, P., & Hakonarson, H. (2019). Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis. Frontiers in genetics, 10257. https://doi.org/10.3389/fgene.2019.00257
Zhang, Jie, et al. "Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis." Frontiers in genetics vol. 10 (2019): 257. doi: https://doi.org/10.3389/fgene.2019.00257
Zhang J, Wei Z, Cardinale CJ, Gusareva ES, Van Steen K, Sleiman P, Hakonarson H. Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis. Front Genet. 2019 Apr 03;10:257. doi: 10.3389/fgene.2019.00257. eCollection 2019. PMID: 31001315; PMCID: PMC6456704.
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The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.

World psychiatry : official journal of the World Psychiatric Association (WPA)

Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE.
PMID: 25273303
World Psychiatry. 2014 Oct;13(3):296-305. doi: 10.1002/wps.20152.

Little is known about the occurrence and predictors of the psychosis spectrum in large non-clinical community samples of U.S. youths. We aimed to bridge this gap through assessment of psychosis spectrum symptoms in the Philadelphia Neurodevelopmental Cohort, a collaborative...

Cite
Calkins ME, Moore TM, Merikangas KR, et al. The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort. World Psychiatry. 2014;13(3):296-305doi: 10.1002/wps.20152.
Calkins, M. E., Moore, T. M., Merikangas, K. R., Burstein, M., Satterthwaite, T. D., Bilker, W. B., Ruparel, K., Chiavacci, R., Wolf, D. H., Mentch, F., Qiu, H., Connolly, J. J., Sleiman, P. A., Hakonarson, H., Gur, R. C., & Gur, R. E. (2014). The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort. World psychiatry : official journal of the World Psychiatric Association (WPA), 13(3), 296-305. https://doi.org/10.1002/wps.20152
Calkins, Monica E, et al. "The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort." World psychiatry : official journal of the World Psychiatric Association (WPA) vol. 13,3 (2014): 296-305. doi: https://doi.org/10.1002/wps.20152
Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE. The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort. World Psychiatry. 2014 Oct;13(3):296-305. doi: 10.1002/wps.20152. PMID: 25273303; PMCID: PMC4219071.
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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

JIMD reports

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.
PMID: 24515575
JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11.

BACKGROUND: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mitochondrial disease. Here, we report results of...

Cite
Falk MJ, Li D, Gai X, et al. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014;14:77-85doi: 10.1007/8904_2013_287.
Falk, M. J., Li, D., Gai, X., McCormick, E., Place, E., Lasorsa, F. M., Otieno, F. G., Hou, C., Kim, C. E., Abdel-Magid, N., Vazquez, L., Mentch, F. D., Chiavacci, R., Liang, J., Liu, X., Jiang, H., Giannuzzi, G., Marsh, E. D., Yiran, G., Tian, L., Palmieri, F., & Hakonarson, H. (2014). AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD reports, 1477-85. https://doi.org/10.1007/8904_2013_287
Falk, Marni J, et al. "AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate." JIMD reports vol. 14 (2014): 77-85. doi: https://doi.org/10.1007/8904_2013_287
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. PMID: 24515575; PMCID: PMC4213337.
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