Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients von Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A

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KBG syndrome mimicking genetic generalized epilepsy von Murphy, M.J., McSweeney, N., Cavalleri, G.L., Greally, M.T., Benson, K.A., Costello, D.J.

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Shprintzen-Goldberg syndrome: A clinical analysis von Greally, Marie T., Carey, John C., Milewicz, Dianna M., Hudgins, Louanne, Goldberg, Rosalie B., Shprintzen, Robert J., Cousineau, Anthony J., Smith Jr, Wilbur L., Judisch, G. Frank, Hanson, James W.

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival von Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy von Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd

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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen von Byers, Peter H., Duvic, Madeleine, Atkinson, Mary, Robinow, Meinhard, Smith, Lynne T., Krane, Stephen M., Greally, Marie T., Ludman, Mark, Matalon, Reuben, Pauker, Susan, Quanbeck, Deborah, Schwarze, Ulrike

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Cancer epigenetics: Moving forward von Nebbioso, Angela, Tambaro, Francesco Paolo, Dell'Aversana, Carmela, Altucci, Lucia

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Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins von Hannon, Eilis, Knox, Olivia, Sugden, Karen, Burrage, Joe, Wong, Chloe C Y, Belsky, Daniel W, Corcoran, David L, Arseneault, Louise, Moffitt, Terrie E, Caspi, Avshalom, Mill, Jonathan

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Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia von Greally, Marie T., Jewett, Tamison, Smith Jr, Wilbur L., Penick, George D., Williamson, Roger A.

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Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion von Dayeh, Tasnim, Volkov, Petr, Salö, Sofia, Hall, Elin, Nilsson, Emma, Olsson, Anders H, Kirkpatrick, Clare L, Wollheim, Claes B, Eliasson, Lena, Rönn, Tina, Bacos, Karl, Ling, Charlotte

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A six months exercise intervention influences the genome-wide DNA methylation pattern in human adipose tissue von Rönn, Tina, Volkov, Petr, Davegårdh, Cajsa, Dayeh, Tasnim, Hall, Elin, Olsson, Anders H, Nilsson, Emma, Tornberg, Asa, Dekker Nitert, Marloes, Eriksson, Karl-Fredrik, Jones, Helena A, Groop, Leif, Ling, Charlotte

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A meta-analysis of genome-wide association studies of epigenetic age acceleration von Gibson, Jude, Russ, Tom C, Clarke, Toni-Kim, Howard, David M, Hillary, Robert F, Evans, Kathryn L, Walker, Rosie M, Bermingham, Mairead L, Morris, Stewart W, Campbell, Archie, Hayward, Caroline, Murray, Alison D, Porteous, David J, Horvath, Steve, Lu, Ake T, McIntosh, Andrew M, Whalley, Heather C, Marioni, Riccardo E

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Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility von Jenkins, Timothy G, Aston, Kenneth I, Pflueger, Christian, Cairns, Bradley R, Carrell, Douglas T

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MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain von Lagger, Sabine, Connelly, John C, Schweikert, Gabriele, Webb, Shaun, Selfridge, Jim, Ramsahoye, Bernard H, Yu, Miao, He, Chuan, Sanguinetti, Guido, Sowers, Lawrence C, Walkinshaw, Malcolm D, Bird, Adrian

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Genome-wide associations between genetic and epigenetic variation influence mRNA expression and insulin secretion in human pancreatic islets von Olsson, Anders H, Volkov, Petr, Bacos, Karl, Dayeh, Tasnim, Hall, Elin, Nilsson, Emma A, Ladenvall, Claes, Rönn, Tina, Ling, Charlotte

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An integrative multi-scale analysis of the dynamic DNA methylation landscape in aging von Yuan, Tian, Jiao, Yinming, de Jong, Simone, Ophoff, Roel A, Beck, Stephan, Teschendorff, Andrew E

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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals von Zhao, Boxun, Wu, Qixi, Ye, Adam Yongxin, Guo, Jing, Zheng, Xianing, Yang, Xiaoxu, Yan, Linlin, Liu, Qing-Rong, Hyde, Thomas M, Wei, Liping, Huang, August Yue

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DNA methylation dynamics in human induced pluripotent stem cells over time von Nishino, Koichiro, Toyoda, Masashi, Yamazaki-Inoue, Mayu, Fukawatase, Yoshihiro, Chikazawa, Emi, Sakaguchi, Hironari, Akutsu, Hidenori, Umezawa, Akihiro

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Epigenetic Aging Signatures Are Coherently Modified in Cancer von Lin, Qiong, Wagner, Wolfgang

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