المؤلفون: Haghshenas, Sadegheh^{Aff1, Aff2}, Foroutan, Aidin, Bhai, Pratibha, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley^{Aff1, Aff2}, Skinner, Cindy D., Caylor, Raymond C., Tedder, Matthew L., Stevenson, Roger E., Sadikovic, Bekim^{Aff1, Aff2, IDs4143102301313z_cor12}, Schwartz, Charles E.^{Aff3, Aff4, IDs4143102301313z_cor13}

المصدر: European Journal of Human Genetics. 31(8):879-886

المؤلفون: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim^{Aff2, Aff3}, Stevenson, Roger E.^{Aff1, IDs41431021010181_cor23}

المصدر: European Journal of Human Genetics. 30(4):420-427

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المؤلفون: Ciolfi, Andrea, Foroutan, Aidin^{Aff2, Aff3}, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco^Aff1, Sadikovic, Bekim^{Aff2, Aff3, Aff16}

المصدر: Clinical Epigenetics. 13(1)

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المؤلفون: del Rocío Pérez Baca, María, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, Maria, Carels, Marieke, Demaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8bb61b29310c290fafc27c52161a7c8c
https://europepmc.org/articles/PMC10246128/

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المؤلفون: Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Ostergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

المصدر: Levy , M A , McConkey , H , Kerkhof , J , Barat-Houari , M , Bargiacchi , S , Biamino , E , Cappuccio , G , Ciolfi , A , Clarke , A , DuPont , B R , Elting , M W , Faivre , L , Fee , T , Fletcher , R S , Cherik , F , Foroutan , A , Friez , M J , Gervasini , C , Haghshenas , S , Hilton , B A , Jenkins , Z , Kaur , S , Lewis , S , Louie , R J , Maitz , S , Milani , D , Morgan , A T , Oegema , R , Ostergaard , E , Pallares , N R , Piccione , M , Pizzi , S , Plomp , A S , Poulton , C , Reilly , J , Relator , R , Rius , R , Robertson , S , Rooney , K , Rousseau , J , Santen , G W E , Santos-Simarro , F , Schijns , J , Squeo , G M , St John , M , Thauvin-Robinet , C , Traficante , G , van der Sluijs , P J , Vergano , S A , Vos , N , Walden , K K , Azmanov , D , Balci , T , Banka , S , Gecz , J , Henneman , P , Lee , J A , Mannens , M M A M , Roscioli , T , Siu , V , Amor , D J , Baynam , G , Bend , E G , Boycott , K , Brunetti-Pierri , N , Campeau , P M , Christodoulou , J , Dyment , D , Esber , N , Fahrner , J A , Fleming , M D , Genevieve , D , Kerrnohan , K D , McNeill , A , Menke , L A , Merla , G , Prontera , P , Rockman-Greenberg , C , Schwartz , C , Skinner , S A , Stevenson , R E , Vitobello , A , Tartaglia , M , Alders , M , Tedder , M L & Sadikovic , B 2022 , ' Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders ' , Human Genetics and Genomics Advances , vol. 3 , no. 1 , 100075 .

مصطلحات الفهرس: INTELLECTUAL DISABILITY, COFFIN-SIRIS, SIGNATURE, MUTATIONS, VARIANTS, COMPLEX, DOMAIN, article

URL: https://curis.ku.dk/portal/da/publications/novel-diagnostic-dna-methylation-episignatures-expand-and-refine-the-epigenetic-landscapes-of-mendelian-disorders(cf906bd0-f044-4f9c-a987-8e86a585c37e).html
https://doi.org/10.1016/j.xhgg.2021.100075
https://curis.ku.dk/ws/files/346079589/Novel_diagnostic.pdf