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

Accelerated mutator phenotype in a clinical Aspergillus fumigatus isolate contributes to adaptive evolution

临床分离的烟曲霉菌株中加速突变表型促进了其适应性进化。

Song, Yinggai; Hokken, Margriet W J; Zoll, Jan; Venselaar, Hanka; Verweij, Paul E; Melchers, Willem J G; Rhodes, Johanna

Characteristics of individual cyp51A SNPs and combinations thereof impacting the azole phenotype in TR(34)-mediated resistance genotypes of Aspergillus fumigatus

单个 cyp51A SNP 及其组合对烟曲霉 TR(34) 介导的唑类药物耐药基因型表型的影响

Song, Yinggai; Buil, Jochem B; Zoll, Jan; Tehupeiory-Kooreman, Marlou; Venselaar, Hanka; Li, Ruoyu; Melchers, Willem J G; Verweij, Paul E

Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa

探索外显子切除作为未来治疗ADGRV1相关性视网膜色素变性的治疗干预策略

Stemerdink, Merel; Malinar, Lucija; Broekman, Sanne; Peters, Theo; Ensink, Iris; Ivanchenko, Maryna V; Venselaar, Hanka; Kremer, Hannie; de Vrieze, Erik; van Wijk, Erwin

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

常染色体显性遗传性肾脏低镁血症中的新型RRAGD变异及其治疗前景

Adella, Anastasia; Jouret, François; Madariaga, Leire; Leermakers, Pieter A; Arango, Pedro; Ariceta, Gema; Beck, Bodo B; Bjerre, Anna; Bockenhauer, Detlef; Coccia, Paula; Dhamija, Radhika; de Frutos, Fernando; Garcia-Castano, Alejandro; van Katwijk, Sara B; Lucas, Jesus; Möller, Thomas; Müller, Dominik; Pinto E Vairo, Filippo; Raki, Melinda; Rips, Jonathan; Schlingmann, Karl Peter; Venselaar, Hanka; Machado Bressan Wilke, Matheus Vernet; Nijenhuis, Tom; Hoenderop, Joost; de Baaij, Jeroen

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

扩展 PRAAS 谱系:6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变

van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 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; van Beeck Calkoen, Rixje; 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, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; 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

A rare homozygous INS variant causes adult-onset diabetes

一种罕见的纯合INS变异会导致成人发病型糖尿病

Tans, Roel; Glendorf, Tine; van Herwaarden, Antonius E; Venselaar, Hanka; van Rijswijck, Danique M H; Wevers, Ron A; Gloerich, Jolein; van Gool, Alain; Tack, Cees J

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

同源蛋白结构域中的新生突变热点可识别神经发育障碍中的功能改变突变

Wiel, Laurens; Hampstead, Juliet E; Venselaar, Hanka; Vissers, Lisenka E L M; Brunner, Han G; Pfundt, Rolph; Vriend, Gerrit; Veltman, Joris A; Gilissen, Christian

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

以蛋白质结构域为导向的方法扩大 USH2A 相关视网膜色素变性的外显子跳跃治疗机会

Renske T W Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

关键染色质修饰因子WDR5中杂合错义变异的聚集定义了一种新的神经发育障碍

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske