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Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

Palamara, Pier Francesco, Francioli, Laurent C, Wilton, Peter R, Genovese, Giulio, Gusev, Alexander, Finucane, Hilary K, Sankararaman, Sriram, Consortium, Genome of the Netherlands, Sunyaev, Shamil R, de Bakker, Paul IW, Wakeley, John, Pe’er, Itsik, Price, Alkes L
Veröffentlicht in: American Journal of Human Genetics, vol 97, iss 6;
2015

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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Van der Zee, J, Gijselinck, I, Van Mossevelde, S, Perrone, F, Dillen, L, Heeman, B, Baumer, V, Engelborghs, S, De Bleecker, J, Baets, J, Gelpi, E, Rojas-Garcia, R, Clarimon, J, Lleo, A, Diehl-Schmid, J, Alexopoulos, P, Perneczky, R, Synofzik, M, Just, J, Schoels, L, Graff, C, Thonberg, H, Borroni, B, Padovani, A, Jordanova, A, Sarafov, S, Tournev, I, De Mendonca, A, Miltenberger-Miltenyi, G, Simoes do Couto, F, Ramirez, A, Jessen, F, Heneka, MT, Gomez-Tortosa, E, Danek, A, Cras, P, Vandenberghe, R, De Jonghe, P, De Deyn, PP, Sleegers, K, Cruts, M, Van Broeckhoven, C, Goeman, J, Nuytten, D, Smets, K, Robberecht, W, Van Damme, P, Santens, P, Dermaut, B, Versijpt, J, Michotte, A, Ivanoiu, A, Deryck, O, Bergmans, B, Delbeck, B, Bruyland, M, Willems, C, Salmon, E, Pastor, P, Ortega-Cubero, S, Benussi, L, Ghidoni, R, Binetti, G, Hernandez, I, Boada, M, Ruiz, A, Sorbi, S, Nacmias, B, Bagnoli, S, Sanchez-Valle, R, Llado, A, Santana, I, Almeida, MR, Frisoni, GB, Maetzler, W, Matej, R, Fraidakis, MJ, Kovacs, GG, Fabrizi, GM, Testi, S
2016

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Skewed X-inactivation is common in the general female population

Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI
2018

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Multilocus sequence typing analysis reveals that Cryptococcus neoformans var. neoformans is a recombinant population

Cogliati, Massinio, Zani, Alberto, Rickerts, Volker, McCormick, Ilka, Desnos-Ollivier, Marie, Velegraki, Aristea, Escandon, Patricia, Ichikawa, Tomoe, Ikeda, Reiko, Bienvenu, Anne-Lise, Tintelnot, Kathrin, Lockhart, Shawn, Tortorano, Anna Maria, Varma, Ashok
2016