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

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

NOTCH1 变异体的 DNA 甲基化分析揭示了非综合征型先天性心脏缺陷的首个表观遗传特征

Dombrowsky, Gregor; van der Laan, Liselot; Silva, Ananília; Breckpot, Jeroen; Audain, Enrique; Wilsdon, Anna; Levy, Michael A; Vos, Niels; Mannens, Marcel; Wang, Jiao; Jain, Anjali; Lesurf, Robert; Winlaw, David; Bezzina, Connie R; Thomas, Mary Ann; Caliebe, Almuth; Klaassen, Sabine; Berger, Felix; Dittrich, Sven; Stiller, Brigitte; Abdul-Khaliq, Hashim; Dähnert, Ingo; Bu'Lock, Frances; Loughna, Siobhan; Brook, J David; Mital, Seema; Russell, Robert B; Pickardt, Thomas; Bauer, Ulrike; Kramer, Hans-Heiner; Uebing, Anselm; Henneman, Peter; Sadikovic, Bekim; Postma, Alex; Hitz, Marc-Phillip

Chromatin accessibility during human first-trimester neurodevelopment

人类妊娠早期神经发育过程中染色质可及性

Mannens, Camiel C A; Hu, Lijuan; Lönnerberg, Peter; Schipper, Marijn; Reagor, Caleb C; Li, Xiaofei; He, Xiaoling; Barker, Roger A; Sundström, Erik; Posthuma, Danielle; Linnarsson, Sten

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

An exploratory single-cell analysis of peripheral blood mononuclear cells from vedolizumab-treated Crohn's disease patients identifies response-associated differences among the plasmacytoid dendritic cells and classical monocytes

对接受维多珠单抗治疗的克罗恩病患者外周血单核细胞进行探索性单细胞分析,发现浆细胞样树突状细胞和经典单核细胞之间存在与治疗反应相关的差异。

Li Yim, Andrew Yung Fong; Hageman, Ishtu; Joustra, Vincent W; Elfiky, Ahmed M I M; Ghiboub, Mohammed; Levin, Evgeni; Verhoeff, Jan; Verseijden, Caroline; Admiraal, Iris; de Krijger, Manon; Wildenberg, Manon E; Mannens, Marcel; Jakobs, Marja E; Kenter, Susan B; Adams, Alex T; Satsangi, Jack; D'Haens, Geert R; de Jonge, Wouter J; Henneman, Peter

[Not Available]

[无法使用]

Vrijenhoek, Terry; Kraaijeveld, Ken; Elferink, Martin; de Ligt, Joep; Kranendonk, Elcke; Santen, Gijs; Nijman, Isaac J; Butler, Derek; Claes, Godelieve; Costessi, Adalberto; Dorlijn, Wim; van Eyndhoven, Winfried; Halley, Dicky J J; van den Hout, Mirjam C G N; van Hove, Steven; Johansson, Lennart F; Jongbloed, Jan D H; Kamps, Rick; Kockx, Christel E M; de Koning, Bart; Kriek, Marjolein; Deprez, Ronald Lekanne Dit; Lunstroo, Hans; Mannens, Marcel; Mook, Olaf R; Nelen, Marcel; Ploem, Corrette; Rijnen, Marco; Saris, Jasper J; Sinke, Richard; Sistermans, Erik; van Slegtenhorst, Marjon; Sleutels, Frank; van der Stoep, Nienke; van Tienhoven, Marianne; Vermaat, Martijn; Vogel, Maartje; Waisfisz, Quinten; Weiss, Janneke Marjan; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F J; den Dunnen, Johan T; Veltman, Joris A; Hennekam, Raoul; Cuppen, Edwin; Cserni, Gábor; Papp, Eszter; Járay, Balázs; Kálmán, Endre; Krenács, Tibor; Tóth, Erika; Török, Miklós; Udvarhelyi, Nóra; Vörös, András; Kulka, Janina

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

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders

ImprintCap 是一种强大的基于新一代测序 (NGS) 的技术,用于研究印记障碍的分子背景。

Brioude, Frédéric; Haagmans, Martin A; Mannens, Marcel; Netchine, Irene; Alders, Marielle; Henneman, Peter; Bliek, Jet

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