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

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的群体差异导致其对微缺失和倒位的易感性不同。

Porubsky, David; Yoo, DongAhn; Koundinya, Nidhi; Souche, Erika; Dishuck, Philip C; Dierckxsens, Nicolas; Harvey, William T; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Leung, Tiffany Y; Santos, Marta S; Meynants, Senne; Swillen, Ann; Breckpot, Jeroen; Tsapalou, Vasiliki; Hasenfeld, Patrick; Korbel, Jan O; Lansdorp, Peter M; Vermeesch, Joris R; Eichler, Evan E

Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome

多种旁系同源基因和重组机制导致22q11.2缺失综合征的高发病率。

Vervoort, Lisanne; Dierckxsens, Nicolas; Sousa Santos, Marta; Meynants, Senne; Souche, Erika; Cools, Ruben; Heung, Tracy; Devriendt, Koen; Peeters, Hilde; McDonald-McGinn, Donna M; Swillen, Ann; Breckpot, Jeroen; Emanuel, Beverly S; Van Esch, Hilde; Bassett, Anne S; Vermeesch, Joris R

MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis

MINDDS-connect:一个整合生物样本库的联邦数据平台,用于构建和分析元队列

Huremagic, Benjamin; Sattanathan, Nishkala; Geysens, Mathilde; Harwood, Janet; Verbesselt, Jente; Meynants, Senne; Swillen, Ann; Van Den Bogaert, Kris; Drakulic, Danijela; Cuturilo, Goran; van Amelsvoort, Thérèse; Linden, David; Oliva-Teles, Natália; Jorge, Paula; van den Bree, Marianne B M; Hall, Jessica H; Chizari, Haleh; Ardeshirdavani, Amin; Harwood, Adrian J; Vandeweyer, Geert; Moreau, Yves; Vermeesch, Joris Robert