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

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco

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

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

多中心临床和功能证据将一种复发的非典型丝状蛋白C剪接改变变体重新分类。

O'Neill, Matthew J; Chen, Suet Nee; Rumping, Lynne; Johnson, Renee; van Slegtenhorst, Marjon; Glazer, Andrew M; Yang, Tao; Solus, Joseph F; Laudeman, Julie; Mitchell, Devyn W; Vanags, Loren R; Kroncke, Brett M; Anderson, Katherine; Gao, Shanshan; Verdonschot, Job A J; Brunner, Han; Hellebrekers, Debby; Taylor, Matthew R G; Roden, Dan M; Wessels, Marja W; Lekanne Dit Deprez, Ronald H; Fatkin, Diane; Mestroni, Luisa; Shoemaker, M Benjamin

"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome

“假设:患者可能存在程序性细胞死亡障碍”:进一步深入了解弗雷泽综合征的发病机制和临床特征

Rumping, Lynne; Hennekam, Raoul C M; Alders, Mariëlle; van Haelst, Mieke M

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

第二例谷氨酰胺酶过度活跃病例:癫痫表型扩展

Rumping, Lynne; Pouwels, Petra J W; Wolf, Nicole I; Rehmann, Holger; Wamelink, Mirjam M C; Waisfisz, Quinten; Jans, Judith J M; Prinsen, Hubertus C M T; van de Kamp, Jiddeke M; van Hasselt, Peter M

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

由新型 FLNA 变异引起的终末骨质发育不良伴色素缺陷和心肌病

Lynne Rumping, Marja W Wessels, Alex V Postma, Joost van Schuppen, Marjon A van Slegtenhorst, Jasper J Saris, J Peter van Tintelen, Stephen P Robertson, Mariëlle Alders, Saskia M Maas, Ronald H Lekanne Deprez

Inborn errors of enzymes in glutamate metabolism

谷氨酸代谢酶的先天性缺陷

Rumping, Lynne; Vringer, Esmee; Houwen, Roderick H J; van Hasselt, Peter M; Jans, Judith J M; Verhoeven-Duif, Nanda M

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

在谷氨酰胺酶缺乏症和新生儿癫痫性脑病背景下鉴定功能丧失突变

Rumping, Lynne; Büttner, Benjamin; Maier, Oliver; Rehmann, Holger; Lequin, Maarten; Schlump, Jan-Ulrich; Schmitt, Bernhard; Schiebergen-Bronkhorst, Birgit; Prinsen, Hubertus C M T; Losa, Michele; Fingerhut, Ralph; Lemke, Johannes R; Zwartkruis, Fried J T; Houwen, Roderick H J; Jans, Judith J M; Verhoeven-Duif, Nanda M; van Hasselt, Peter M; Jamra, Rami

Seroconversion to HCoV-NL63 in Rhesus Macaques

恒河猴对HCoV-NL63的血清转化

Dijkman, Ronald; Mulder, H Lie; Rumping, Lynne; Kraaijvanger, Ilse; Deijs, Martin; Jebbink, Maarten F; Verschoor, Ernst J; van der Hoek, Lia