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

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

对 41,755 个外显子组中旁系同源区域的系统分析揭示了具有临床意义的变异

Steyaert, Wouter; Haer-Wigman, Lonneke; Pfundt, Rolph; Hellebrekers, Debby; Steehouwer, Marloes; Hampstead, Juliet; de Boer, Elke; Stegmann, Alexander; Yntema, Helger; Kamsteeg, Erik-Jan; Brunner, Han; Hoischen, Alexander; Gilissen, Christian

Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity

20年间,与年龄相关的突变驱动的克隆性造血的演变与肥胖症的代谢功能障碍有关。

Andersson-Assarsson, Johanna C; van Deuren, Rosanne C; Kristensson, Felipe M; Steehouwer, Marloes; Sjöholm, Kajsa; Svensson, Per-Arne; Pieterse, Marc; Gilissen, Christian; Taube, Magdalena; Jacobson, Peter; Perkins, Rosie; Brunner, Han G; Netea, Mihai G; Peltonen, Markku; Carlsson, Björn; Hoischen, Alexander; Carlsson, Lena M S

Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV

在 HIV 病毒抑制患者中,克隆性造血与 CD4 最低值较低和 HIV 残留转录活性增加有关

Wouter A van der Heijden, Rosanne C van Deuren, Lisa van de Wijer, Inge C L van den Munckhof, Marloes Steehouwer, Niels P Riksen, Mihai G Netea, Quirijn de Mast, Linos Vandekerckhove, Richarda M de Voer, Andre J van der Ven, Alexander Hoischen

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

白细胞介素-1通路中罕见和常见基因变异对人类细胞因子反应的影响

van Deuren, Rosanne C; Arts, Peer; Cavalli, Giulio; Jaeger, Martin; Steehouwer, Marloes; van de Vorst, Maartje; Gilissen, Christian; Joosten, Leo A B; Dinarello, Charles A; Mhlanga, Musa M; Kumar, Vinod; Netea, Mihai G; van de Veerdonk, Frank L; Hoischen, Alexander

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

以遗传学为先导的方法揭示了ARM和VACTERL畸形患者的单基因疾病

van de Putte, Romy; Dworschak, Gabriel C; Brosens, Erwin; Reutter, Heiko M; Marcelis, Carlo L M; Acuna-Hidalgo, Rocio; Kurtas, Nehir E; Steehouwer, Marloes; Dunwoodie, Sally L; Schmiedeke, Eberhard; Märzheuser, Stefanie; Schwarzer, Nicole; Brooks, Alice S; de Klein, Annelies; Sloots, Cornelius E J; Tibboel, Dick; Brisighelli, Giulia; Morandi, Anna; Bedeschi, Maria F; Bates, Michael D; Levitt, Marc A; Peña, Alberto; de Blaauw, Ivo; Roeleveld, Nel; Brunner, Han G; van Rooij, Iris A L M; Hoischen, Alexander

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

与颌面裂相关的 TP63 缺失和功能丧失变异

Kriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, Jakob Gebel, Christina Fagerberg, Ellen van Beusekom, Ellen van Binsbergen, Ozan Topaloglu, Marloes Steehouwer, Christian Gilissen, Nina Ishorst, Iris A L M van Rooij, Nel Roeleveld, Kaare Christensen, Joseph Schoenaers, Stefaan Berg

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

基因型优先的方法识别出一种由PHIP单倍体不足引起的智力障碍-超重综合征。

Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P; Carvill, Gemma L; Van Esch, Hilde; Bosch, Daniëlle G M; Andersen, Ulla A; Baker, Carl; Bauters, Marijke; Bernier, Raphael A; van Bon, Bregje W; Claahsen-van der Grinten, Hedi L; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J C; Stumpel, Connie T; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A; Brunner, Han G; Mefford, Heather C; Romano, Corrado; Vissers, Lisenka E L M; Eichler, Evan E; de Vries, Bert B A

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA

通过 cDNA 多重靶向重测序定量差异基因表达

Peer Arts, Jori van der Raadt, Sebastianus H C van Gestel, Marloes Steehouwer, Jay Shendure, Alexander Hoischen, Cornelis A Albers

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

超灵敏测序技术揭示了成年期克隆性造血相关突变的高发率

Acuna-Hidalgo, Rocio; Sengul, Hilal; Steehouwer, Marloes; van de Vorst, Maartje; Vermeulen, Sita H; Kiemeney, Lambertus A L M; Veltman, Joris A; Gilissen, Christian; Hoischen, Alexander