日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome

郝泉综合征全血和成纤维细胞的整合表观遗传学和转录组学分析

van der Laan, Liselot; Zwart, Rob; Venema, Andrea; Mul, Adri N; Haagmans, Martin A; Hulsbosch, Bart; Dyment, David; Valenzuela, Irene; Caro, Pilar; Sailer, Sebastian; Schaaf, Christian P; Sadikovic, Bekim; Mannens, Marcel M A M; van Haelst, Mieke M; Purushothama, Manasa Kalya; Henneman, Peter

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

疾病突变的结构域定位揭示了阿尔茨海默病中的致病性SORL1变异

Andersen, Olav M; de Waal, Matthijs W J; Monti, Giulia; Tesi, Niccolo; Jensen, Anne Mette G; de Geus, Christa; van Spaendonk, Rosalina; Vogel, Maartje; Ahmad, Shahzad; Amin, Najaf; Amouyel, Philippe; Beecham, Gary W; Bellenguez, Céline; Berr, Claudine; Bis, Joshua C; Boland, Anne; Bossù, Paola; Bouwman, Femke; Bras, Jose; Charbonnier, Camille; Clarimon, Jordi; Cruchaga, Carlos; Daniele, Antonio; Dartigues, Jean-François; Debette, Stéphanie; Deleuze, Jean-François; Denning, Nicola; DeStefano, Anita L; Dols-Icardo, Oriol; van Duijn, Cornelia M; Farrer, Lindsay A; Fernández, Maria Victoria; van der Flier, Wiesje M; Fox, Nick C; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J P; Grenier-Boley, Benjamin; Grozeva, Detelina; Guen, Yann Le; Guerreiro, Rita; Haines, Jonathan L; Holmes, Clive; Hummerich, Holger; Arfan Ikram, M; Kamran Ikram, M; Kawalia, Amit; Kraaij, Robert; Lambert, Jean-Charles; Lathrop, Marc; Lemstra, Afina W; Lleó, Alberto; Myers, Richard M; Mannens, Marcel M A M; Marshall, Rachel; Martin, Eden R; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O; Nacmias, Benedetta; Naj, Adam C; Napolioni, Valerio; Nicholas Cochran, J; Nicolas, Gaël; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A; Pijnenburg, Yolande A L; Piras, Fabrizio; Quenez, Olivier; Ramirez, Alfredo; Raybould, Rachel; Redon, Richard; Reinders, Marcel J T; Richard, Anne-Claire; Riedel-Heller, Steffi G; Rivadeneira, Fernando; van Rooij, Jeroen G J; Rousseau, Stéphane; Ryan, Natalie S; Sanchez-Juan, Pascual; Schellenberg, Gerard D; Scheltens, Philip; Schott, Jonathan M; Seshadri, Sudha; Sie, Daoud; Sims, Rebecca; Sistermans, Erik A; Sorbi, Sandro; van Swieten, John C; Tijms, Betty; Uitterlinden, André G; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Williams, Julie; Yokoyama, Jennifer S; Zarea, Aline; van der Lee, Sven J; Olsen, Johan G; Hulsman, Marc; Holstege, Henne

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

通过确定表观遗传特征,验证 CDK13 中的低活性变异是常染色体隐性遗传 CHDFIDD 的病因

Fischer, Jan; Alders, Mariëlle; Mannens, Marcel M A M; Genevieve, David; Hackmann, Karl; Schröck, Evelin; Sadikovic, Bekim; Porrmann, Joseph

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

Distinct saliva DNA methylation profiles in relation to treatment outcome in youth with posttraumatic stress disorder

创伤后应激障碍青少年唾液DNA甲基化谱与治疗结果的关系

Ensink, Judith B M; Henneman, Peter; Venema, Andrea; Zantvoord, Jasper B; den Kelder, Rosanne Op; Mannens, Marcel M A M; Lindauer, Ramón J L

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

对100例荷兰16p11.2缺失和重复综合征病例的评估;从临床表现到个体化治疗方案

Vos, Niels; Kleinendorst, Lotte; van der Laan, Liselot; van Uhm, Jorrit; Jansen, Philip R; van Eeghen, Agnies M; Maas, Saskia M; Mannens, Marcel M A M; van Haelst, Mieke M

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

TCF4变异引起的Pitt-Hopkins综合征的DNA甲基化表观特征和比较表观基因组分析

van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

检测到Chung-Jansen综合征的强表观遗传特征,该特征与Börjeson-Forssman-Lehmann综合征和White-Kernohan综合征部分重叠。

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, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José 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, Mariëlle; Henneman, Peter; White, Susan M; Sadikovic, Bekim; van Haelst, Mieke M

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

KDM2B相关神经发育障碍及其相关DNA甲基化特征的阐明

van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske