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

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

Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants

优化复杂形态特征的表型分析:增强常见和罕见遗传变异的发现

Yuan, Meng; Goovaerts, Seppe; Lee, Myoung K; Devine, Jay; Richmond, Stephen; Walsh, Susan; Shriver, Mark D; Shaffer, John R; Marazita, Mary L; Peeters, Hilde; Weinberg, Seth M; Claes, Peter

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

Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences

临床中的多基因风险评分:利益相关者观点、态度和经验的系统性综述

Andreoli, Lara; Peeters, Hilde; Van Steen, Kristel; Dierickx, Kris

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

A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder

基于三元组奇异几何自编码器的遗传综合征三维临床面部表型空间

Mahdi, Soha S; Caldeira, Eduarda; Matthews, Harold; Vanneste, Michiel; Nauwelaers, Nele; Yuan, Meng; Bouritsas, Giorgos; Baynam, Gareth S; Hammond, Peter; Spritz, Richard; Klein, Ophir D; Bronstein, Michael; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

通过三维面部形态测量推进基因型-表型分析:来自猫叫综合征的启示

Vanneste, Michiel; Matthews, Harold; Sleyp, Yoeri; Hammond, Peter; Shriver, Mark; Weinberg, Seth M; Marazita, Mary L; Walsh, Susan; Hallgrímsson, Benedikt; Klein, Ophir D; Spritz, Richard A; Van Den Bogaert, Kris; Claes, Peter; Peeters, Hilde

Mapping genes for human face shape: Exploration of univariate phenotyping strategies.

绘制人类面部形状基因图谱:探索单变量表型分析策略

Yuan Meng, Goovaerts Seppe, Vanneste Michiel, Matthews Harold, Hoskens Hanne, Richmond Stephen, Klein Ophir D, Spritz Richard A, Hallgrimsson Benedikt, Walsh Susan, Shriver Mark D, Shaffer John R, Weinberg Seth M, Peeters Hilde, Claes Peter

Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study

探讨寻求辅助生殖技术的夫妇对生殖基因携带者筛查的态度和经历:一项纵向调查研究

Van Steijvoort, Eva; Cassou, Mathilde; De Schutter, Camille; Dimitriadou, Eftychia; Peeters, Hilde; Peeraer, Karen; Matthijs, Gert; Borry, Pascal

Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium)

比利时弗兰德斯地区育龄男女对生殖遗传携带者筛查的认知、态度和偏好

Van Steijvoort, Eva; Devolder, Heleen; Geysen, Inne; Van Epperzeel, Silke; Peeters, Hilde; Peeraer, Karen; Matthijs, Gert; Borry, Pascal