A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M

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Endothelin-1 Regulation Is Entangled in a Complex Web of Epigenetic Mechanisms in Diabetes von BISWAS, S., FENG, B., THOMAS, A., CHEN, S., AREF-ESHGHI, E., SADIKOVIC, B., CHAKRABARTI, S.

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Metabolomic analysis of human plasma reveals that arginine is depleted in knee osteoarthritis patients von Zhang, W, Sun, G, Likhodii, S, Liu, M, Aref-Eshghi, E, Harper, P.E, Martin, G, Furey, A, Green, R, Randell, E, Rahman, P, Zhai, G

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Does a familial subtype of complex regional pain syndrome exist? Results of a systematic review von Modarresi, S., Aref-Eshghi, E., Walton, D. M., MacDermid, J. C.

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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome von Schenkel, L. C., Aref-Eshghi, E., Rooney, K., Kerkhof, J., Levy, M. A., McConkey, H., Rogers, R. C., Phelan, K., Sarasua, S. M., Jain, L., Pauly, R., Boccuto, L., DuPont, B., Cappuccio, G., Brunetti-Pierri, N., Schwartz, C. E., Sadikovic, B.

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The genetic background of Southern Iranian couples before marriage von Nariman, A, Sobhan, MR, Savaei, M, Aref-Eshghi, E, Nourinejad, R, Manoochehri, M, Ghahremani, S, Daliri, F, Daliri, K

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Gene expression analysis and DNA methylation in the promoter region of matrix metalloproteinase – 13 (MMP-13) and osteoarthritis von Harper, P.E, Liu, M, Aref-Eshghi, E, Martin, G, Furey, A, Green, R, Rahman, P, Zhai, G

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Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and ‎skeletal system morphogenesis as major pathways involved in osteoarthritis von Aref-Eshghi, E, Zhang, Y, Liu, M, Harper, P.E, Martin, G, Furey, A, Green, R, Rahman, P, Zhai, G

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SMAD3 is up-regulated in human osteoarthritic cartilage independent of promoter dna ‎methylation von Aref-Eshghi, E, Liu, M, Razavi-Lopez, S.B, Hirasawa, K, Harper, P.E, Martin, G, Furey, A, Green, R, Rahman, P, Zhai, G

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An epigenome-wide association study of osteoarthritis von Zhai, G, Rabie, Z, Aref Eshghi, E, Green, R, Furey, A, Martin, G, Sun, G, Rahman, P

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SMAD3 gene is associated with generalized osteoarthritis von Aref Eshghi, E, Zhang, Y, Hart, D, Valdes, A, Furey, A, Martin, G, Sun, G, Rahman, P, Spector, T.D, Zhai, G

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A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I. M, Maas, S. M, Henneman, Peter, Lip, K. V. D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, Essen, A. J. van, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H. G, Labalme, Audrey, Lewis, S. M, Lesca, Gaetan, Madrigal Bajo, Irene, Mahida, S, Matsumoto, N, Rabionet Janssen, Raquel, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D. A, Alders, M, Mannens, M. M. A. M

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Additional file 3 of DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome von L. C. Schenkel, E. Aref-Eshghi, K. Rooney, J. Kerkhof, M. A. Levy, H. McConkey, R. C. Rogers, K. Phelan, S. M. Sarasua, L. Jain, R. Pauly, L. Boccuto, B. DuPont, G. Cappuccio, N. Brunetti-Pierri, C. E. Schwartz, Sadikovic, B.

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The Genetic Background of Southern Iranian Couples Before Marriage von Nariman, A, Sobhan, MR, Savaei, M, Aref-Eshghi, E, Nourinejad, R, Manoochehri, M, Ghahremani, S, Daliri, F, Daliri, K

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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature von Ciolfi, A., Aref-Eshghi, E., Pizzi, S., Pedace, L., Miele, E., Kerkhof, J., Flex, E., Martinelli, S., Radio, F.C., Ruivenkamp, C.A.L., Santen, G.W.E., Bijlsma, E., Barge-Schaapveld, D., Ounap, K., Siu, V.M., Kooy, R.F., Dallapiccola, B., Sadikovic, B., Tartaglia, M.

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes von Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim

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Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1 von Martin-Herranz, Daniel E, Aref-Eshghi, Erfan, Bonder, Marc Jan, Stubbs, Thomas M, Choufani, Sanaa, Weksberg, Rosanna, Stegle, Oliver, Sadikovic, Bekim, Reik, Wolf, Thornton, Janet M

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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes von Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim

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Additional file 4 of DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome von L. C. Schenkel, E. Aref-Eshghi, K. Rooney, J. Kerkhof, M. A. Levy, H. McConkey, R. C. Rogers, K. Phelan, S. M. Sarasua, L. Jain, R. Pauly, L. Boccuto, B. DuPont, G. Cappuccio, N. Brunetti-Pierri, C. E. Schwartz, Sadikovic, B.

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