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

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions

远端22q11.22-23染色体缺失个体先天性心脏病的患病率和谱系

Nelson, Tanner J; McGinn, Daniel E; Crowley, T Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S; Zackai, Elaine H; Zhang, Zhengdong D; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S; Morrow, Bernice E; McDonald-McGinn, Donna M

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications

22q11.2 和 16p11.2 缺失和重复的神经认知特征

Gur, Ruben C; Bearden, Carrie E; Jacquemont, Sebastien; Swillen, Ann; van Amelsvoort, Therese; van den Bree, Marianne; Vorstman, Jacob; Sebat, Jonathan; Ruparel, Kosha; Gallagher, Robert Sean; McClellan, Emily; White, Lauren; Crowley, Terrence Blaine; Giunta, Victoria; Kushan, Leila; O'Hora, Kathleen; Verbesselt, Jente; Vandensande, Ans; Vingerhoets, Claudia; van Haelst, Mieke; Hall, Jessica; Harwood, Janet; Chawner, Samuel J R A; Patel, Nishi; Palad, Katrina; Hong, Oanh; Guevara, James; Martin, Charles Olivier; Jizi, Khadije; Bélanger, Anne-Marie; Scherer, Stephen W; Bassett, Anne S; McDonald-McGinn, Donna M; Gur, Raquel 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

Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion

16p11.2缺失的学龄儿童的发育里程碑和认知轨迹

Verbesselt, Jente; Breckpot, Jeroen; Zink, Inge; Swillen, Ann

The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance

通过对22q11.2缺失、15q11.2缺失以及具有意义不明的遗传性拷贝数变异的家族进行研究,探讨家族内认知表型分析的重要性。

Pelgrims, Elise; Hannes, Laurens; Noens, Ilse; Peeters, Yoni; Peeters, Hilde; Fiksinski, Ania M; Heung, Tracy; Bassett, Anne S; Breckpot, Jeroen; Swillen, Ann

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome

评估22q11.2缺失综合征家庭中照护者抑郁、社会支持与儿童内化和外化症状之间的关系

Carbyn, Holly; Hossain, Abiaz; Dias, Raquel L; Palmer, Lisa D; Ayoub, Sophie; Lingley-Pottie, Patricia; McGrath, Patrick J; Rideout, Andrea L; Shugar, Andrea; Cytrynbaum, Cheryl; McDonald-McGinn, Donna M; Swillen, Ann; Bassett, Anne S; Meier, Sandra

Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study

22q11.2缺失综合征中帕金森病患病率:一项多中心研究

von Scheibler, Emma N M M; Swillen, Ann; Repetto, Gabriela M; Reyes, Nikolai Gil D; Lang, Anthony E; Marras, Connie; Kuijf, Mark L; Rouhl, Rob P W; van Eeghen, Agnies M; Juri, Carlos; Vogels, Annick; van Amelsvoort, Thérèse A M J; Bassett, Anne S; Boot, Erik