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

WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases

WiNGS-API:一个联合基因组/表型组数据共享平台,可实现罕见病的基因发现和变异分类。

Sattanathan, Nishkala; Huremagic, Benjamin; Vermeesch, Joris Robert; Moreau, Yves; Vandeweyer, Geert

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

Xq24/IL13RA1 aberrations as key drivers of female bias in primary mediastinal large B-cell lymphoma

Xq24/IL13RA1 异常是原发性纵隔大B细胞淋巴瘤女性偏倚的关键驱动因素

Marcelis, Lukas; Allsop, Ryan Nicolaas; Vanden Bempt, Marlies; Debackere, Koen; Renard, Félicien; Tuveri, Stefania; Dierickx, Daan; Janiszewski, Adrian; Balaton, Bradley Philip; Vets, Johanna; Dewaele, Barbara; Michaux, Lucienne; Vandenberghe, Peter; Cools, Jan; Vermeesch, Joris Robert; Tousseyn, Thomas; Pasque, Vincent; Wlodarska, Iwona

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

基于长读长全基因组测序的单细胞单倍型分析和非整倍体分析

Zhao, Yan; Tsuiko, Olga; Jatsenko, Tatjana; Peeters, Greet; Souche, Erika; Geysens, Mathilde; Dimitriadou, Eftychia; Vanhie, Arne; Peeraer, Karen; Debrock, Sophie; Van Esch, Hilde; Vermeesch, Joris Robert

Reconstructing Eocene Antarctic river drainage from provenance analysis of Amundsen Sea embayment sediments

利用阿蒙森海湾沉积物的物源分析重建始新世南极河流排水系统

Marschalek, James W; van de Flierdt, Tina; Siddoway, Christine S; Thomson, Stuart N; Paxman, Guy J G; Jamieson, Stewart S R; Conrad, Ethan; Licht, Kathy J; Hemming, Sidney R; Bentley, Michael J; Hillenbrand, Claus-Dieter; Smith, James A; Klages, Johann P; Fox, Matthew; Pastore, Guido; Vermeesch, Pieter

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

长读长测序技术在发育障碍中表观遗传特征检测的临床评估

Geysens, Mathilde; Huremagic, Benjamin; Souche, Erika; Breckpot, Jeroen; Devriendt, Koenraad; Peeters, Hilde; Van Buggenhout, Griet; Van Esch, Hilde; Van Den Bogaert, Kris; Vermeesch, Joris Robert

DAGIP: alleviating cell-free DNA sequencing biases with optimal transport

DAGIP:通过优化运输方式减轻无细胞DNA测序偏差

Passemiers, Antoine; Tuveri, Stefania; Jatsenko, Tatjana; Vanderstichele, Adriaan; Busschaert, Pieter; Coosemans, An; Timmerman, Dirk; Tejpar, Sabine; Vandenberghe, Peter; Lambrechts, Diether; Raimondi, Daniele; Vermeesch, Joris Robert; Moreau, Yves

Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis

无细胞DNA拷贝数改变可能是短暂的,也可能是克隆性造血的先兆。

Tuveri, Stefania; Brison, Nathalie; Jatsenko, Tatjana; Dewaele, Barbara; Melotte, Cindy; Maggen, Charlotte; Vandecaveye, Vincent; Vandenberghe, Peter; Amant, Frederic; Lenaerts, Liesbeth; Vermeesch, Joris R

Genotype imputation from low-coverage data for medical and population genetic analyses

利用低覆盖率数据进行基因型推断以用于医学和群体遗传分析

Biagini, Simone Andrea; Becelaere, Sara; Aerden, Mio; Jatsenko, Tatjana; Hannes, Laurens; Van Damme, Philip; Breckpot, Jeroen; Devriendt, Koenraad; Thienpont, Bernard; Vermeesch, Joris Robert; Cleynen, Isabelle; Kivisild, Toomas