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

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

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

Cardiogenetics and Artificial Intelligence: the Mutscore Algorithm

心脏遗传学与人工智能:Mutscore算法

Wung, Shu-Fen; Hickey, Kathleen T; Taylor, Jacquelyn Y; Gallek, Matthew J; Hastings, Rosalind; van Ravenswaaij-Arts, Conny; van Asperen, Christi; Peterlin, Borut; Garavelli, Livia; Porretta, A P; Pavlidou, D; Atallah Gonzalez, M I; Unger, S; Rivolta, C; Monney, P; Pruvot, E; Superti-Furga, A

Phelan-McDermid syndrome: a classification system after 30 years of experience

费兰-麦克德米德综合征:基于30年经验的分类系统

Phelan, Katy; Boccuto, Luigi; Powell, Craig M; Boeckers, Tobias M; van Ravenswaaij-Arts, Conny; Rogers, R Curtis; Sala, Carlo; Verpelli, Chiara; Thurm, Audrey; Bennett, William E Jr; Winrow, Christopher J; Garrison, Sheldon R; Toro, Roberto; Bourgeron, Thomas

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,

CHARGE syndrome and related disorders: a mechanistic link

CHARGE 综合征及其相关疾病:机制上的联系

Roser Ufartes, Regina Grün, Gabriela Salinas, Maren Sitte, Fritz Kahl, Monica T Y Wong, Conny M A van Ravenswaaij-Arts, Silke Pauli

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

荷兰-弗拉芒性发育障碍/差异综合诊断指南中,探讨了诊断和治疗中一些未被充分报道的方面。

Bever, Yolande van; Brüggenwirth, Hennie T; Wolffenbuttel, Katja P; Dessens, Arianne B; Groenenberg, Irene A L; Knapen, Maarten F C M; De Baere, Elfride; Cools, Martine; van Ravenswaaij-Arts, Conny M A; Sikkema-Raddatz, Birgit; Claahsen-van der Grinten, Hedi; Kempers, Marlies; Rinne, Tuula; Hersmus, Remko; Looijenga, Leendert; Hannema, Sabine E