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

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions

开发 Del2Phen:一种用于染色体缺失的新型表型描述工具

Rraku, Eleana; Medina, Tyler D; van Ravenswaaij-Arts, Conny M A; Slofstra, Mariska K; Swertz, Morris A; Dijkhuizen, Trijnie; Johansson, Lennart F; Engwerda, Aafke

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow

通过可解释且交互式的RNA引导工作流程,将DNA和RNA联系起来,从而加速罕见病诊断。

Maassen, Willem T K; Pape, Charlotte C E T; Urzua-Traslavina, Carlos G; Niemeijer, Tim; van Lieshout, Tijs; van der Molen, Margriet; Johansson, Lennart F; van der Velde, Kasper J; Franke, Lude; van Gijn, Mariëlle E; Swertz, Morris A

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Ambient air pollution and childhood obesity from infancy to late childhood: An individual participant data meta-analysis of 10 European birth cohorts

环境空气污染与儿童肥胖(从婴儿期到儿童晚期):一项基于10个欧洲出生队列的个体参与者数据荟萃分析

Warkentin, Sarah; Fossati, Serena; Marquez, Sandra; Andersen, Anne-Marie Nybo; Andrusaityte, Sandra; Avraam, Demetris; Ballester, Ferran; Cadman, Tim; Casas, Maribel; de Castro, Montserrat; Chatzi, Leda; Elhakeem, Ahmed; d'Errico, Antonio; Guxens, Mònica; Grazuleviciene, Regina; Harris, Jennifer R; Hernandez, Carmen Iñiguez; Heude, Barbara; Isaevska, Elena; Jaddoe, Vincent W V; Karachaliou, Marianna; Lertxundi, Aitana; Lepeule, Johanna; McEachan, Rosemary R C; Thorbjørnsrud Nader, Johanna L; Pedersen, Marie; Santos, Susana; Slofstra, Mariska; Stephanou, Euripides G; Swertz, Morris A; Vrijkotte, Tanja; Yang, Tiffany C; Nieuwenhuijsen, Mark; Vrijheid, Martine

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

DataSHIELD: mitigating disclosure risk in a multi-site federated analysis platform

DataSHIELD:降低多站点联合分析平台中的信息披露风险

Avraam, Demetris; Wilson, Rebecca C; Aguirre Chan, Noemi; Banerjee, Soumya; Bishop, Tom R P; Butters, Olly; Cadman, Tim; Cederkvist, Luise; Duijts, Liesbeth; Escribà Montagut, Xavier; Garner, Hugh; Gonçalves, Gonçalo; González, Juan R; Haakma, Sido; Hartlev, Mette; Hasenauer, Jan; Huth, Manuel; Hyde, Eleanor; Jaddoe, Vincent W V; Marcon, Yannick; Mayrhofer, Michaela Th; Molnar-Gabor, Fruzsina; Morgan, Andrei Scott; Murtagh, Madeleine; Nestor, Marc; Nybo Andersen, Anne-Marie; Parker, Simon; Pinot de Moira, Angela; Schwarz, Florian; Strandberg-Larsen, Katrine; Swertz, Morris A; Welten, Marieke; Wheater, Stuart; Burton, Paul

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods

MOLGENIS VIP:一个端到端的DNA变异解读流程,适用于研究和诊断,可配置以支持新方法的快速实施。

Maassen, Willem T K; Johansson, Lennart F; Charbon, Bart; Hendriksen, Dennis; van den Hoek, Sander; Slofstra, Mariska K; Mulder, Renée; Meems-Veldhuis, Martine T; Sietsma, Robert; Lemmink, Henny H; van Diemen, Cleo C; van Gijn, Mariëlle E; Swertz, Morris A; van der Velde, Kasper J

'dstidyverse': An Implementation of TidyverseWithin the DataSHIELD Ecosystem

'dstidyverse':Tidyverse 在 DataSHIELD 生态系统中的实现

Cadman, Tim; Slofstra, Mariska; Avraam, Demetris; Hyde, Eleanor; Kikkert, Niels; van der Geest, Marije; Postma, Dick; Veenstra, Ruben; Wheater, Stuart; Zwart, Erik; Swertz, Morris

Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays

利用寡核苷酸芯片低成本生成临床级、非专业人士也能理解的药物遗传学护照

Lanting, Pauline; Warmerdam, Robert; Slager, Jelle; Brugge, Harm; Ochi, Taichi; Benjamins, Marloes; Lopera-Maya, Esteban; Jankipersadsing, Soesma; Gelderloos-Arends, Jody; Teuben, Daphne; Hendriksen, Dennis; Charbon, Bart; Johansson, Lennart; Munnink, Thijs Oude; de Boer-Veger, Nienke; Wilffert, Bob; Swertz, Morris; Touw, Daan; Deelen, Patrick; Knoers, Nine; Dekens, Jackie; Franke, Lude