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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data 第二代和第三代测序数据的种系变异和DNA甲基化分析的最佳实践 Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppede, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario 分享 收藏
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制 Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske 分享 收藏
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M. 分享 收藏
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco 分享 收藏
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene Karimi, Karim; Mol, Merel O.; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Mcconkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H.; Tedder, Matthew L.; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M.; Bouman, Arjan; Sadikovic, Bekim 分享 收藏
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome Liu, Delong; Billington, Charles J.; Raja, Neelam; Wong, Zoe C.; Levin, Mark D.; Resch, Wulfgang; Alba, Camille; Hupalo, Daniel N.; Biamino, Elisa; Bedeschi, Maria Francesca; Digilio, Maria Cristina; Squeo, Gabriella Maria; Villa, Roberta; Parrish, Pheobe C. R.; Knutsen, Russell H.; Osgood, Sharon; Freeman, Joy A.; Dalgard, Clifton L.; Merla, Giuseppe; Pober, Barbara R.; Mervis, Carolyn B.; Roberts, Amy E.; Morris, Colleen A.; Osborne, Lucy R.; Kozel, Beth A. 分享 收藏
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages 泛素连接酶TRIM32促进巨噬细胞对结核分枝杆菌感染的自噬反应 Romagnoli, Alessandra; Di Rienzo, Martina; Petruccioli, Elisa; Fusco, Carmela; Palucci, Ivana; Micale, Lucia; Mazza, Tommaso; Delogu, Giovanni; Merla, Giuseppe; Goletti, Delia; Piacentini, Mauro; Fimia, Gian Maria 分享 收藏
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants Vos, Niels; Reilly, Jack; Elting, Mariet W.; Campeau, Philippe M.; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J.; Kaur, Simran; StJohn, Miya; Morgan, Angela T.; Kamien, Benjamin A.; Patel, Chirag; Tedder, Matthew L.; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A.; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim 分享 收藏
FOXI3 pathogenic variants cause one form of craniofacial microsomia Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E. 分享 收藏
In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line De Leonardis, Francesco; Barile, Simona Nicole; Cianci, Claudia; Pisano, Isabella; Merla, Giuseppe; Pappalettera, Giovanni; Casavola, Caterina; Pappalettere, Carmine 分享 收藏
Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway Savino, Maria; Guida, Claudio Carmine; Nardella, Maria; Murgo, Emanuele; Augello, Bartolomeo; Merla, Giuseppe; De Cosmo, Salvatore; Savino, Antonio Fernando; Tarquini, Roberto; Cei, Francesco; Aucella, Filippo; Mazzoccoli, Gianluigi 分享 收藏
A perspective on diet, epigenetics and complex diseases: where is the field headed next? Coppede, Fabio; Franzago, Marica; Giardina, Emiliano; Lo Nigro, Cristiana; Matullo, Giuseppe; Moltrasio, Chiara; Nacmias, Benedetta; Pileggi, Silvana; Sirchia, Silvia Maria; Stoccoro, Andrea; Storlazzi, Clelia Tiziana; Stuppia, Liborio; Tricarico, Rossella; Merla, Giuseppe 分享 收藏
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 遗传性神经发育障碍全基因组DNA甲基化谱的功能相关性 Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, 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 R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; 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 B.; 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.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim 分享 收藏
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. 分享 收藏
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies Kerkhof, Jennifer; Squeo, Gabriella Maria; McConkey, Haley; Levy, Michael A.; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe 分享 收藏
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