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

Molecular characterization of Cdh12-SCON conditional knockout mice reveals unexpected splicing changes

对 Cdh12-SCON 条件性敲除小鼠的分子特征分析揭示了意想不到的剪接变化。

Ten Hoor, Mayke A C; Linssen, Margot M; Brouwers, Conny M; Claassens, Jill W C; Mulder, Jaap; Hohenstein, Peter

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

The role of TBX18 in congenital heart defects in humans not confirmed

TBX18 在人类先天性心脏缺陷中的作用尚未得到证实

Engwerda, Aafke; Abbott, Kristin M; Hitzert, Marrit M; van Ravenswaaij-Arts, Conny M A; Kerstjens-Frederikse, Wilhelmina S

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

基于社交媒体和文献资料的大型队列研究揭示了末端 6q 缺失的表型谱:DLL1 的重要作用

Engwerda, Aafke; Kerstjens-Frederikse, Wilhelmina S; Corsten-Janssen, Nicole; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

通过在线问卷收集的父母报告的6号染色体异常表型数据:数据一致性和数据可用性

Engwerda, Aafke; Frentz, Barbara; Rraku, Eleana; de Souza, Nadia F Simoes; Swertz, Morris A; Plantinga, Mirjam; Kerstjens-Frederikse, Wilhelmina S; Ranchor, Adelita V; van Ravenswaaij-Arts, Conny M A

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

基于社交媒体队列和文献综述的末端和亚末端6p缺失的表型谱

Rraku, Eleana; Kerstjens-Frederikse, Wilhelmina S; Swertz, Morris A; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A; Engwerda, Aafke

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

神经退行性 VPS41 变体抑制 HOPS 功能和 mTORC1 依赖的 TFEB/TFE3 调节

Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda Ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij-Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser,

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

NSD2基因的功能缺失和错义变异会导致甲基化活性降低,并与一种独特的发育表型相关。

Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M A; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B A; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Õunap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Blok, Lot Snijders; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G; Wevers, Marijke R; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

低收入或中等收入国家儿童严重胰岛素抵抗的诊断方法

van Heerwaarde, Alise A; Klomberg, Renz C W; van Ravenswaaij-Arts, Conny M A; Ploos van Amstel, Hans Kristian; Toekoen, Aartie; Jessurun, Fariza; Garg, Abhimanyu; van der Kaay, Daniëlle C M