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

Genomic imbalances in the placenta are associated with poor fetal growth

胎盘基因组失衡与胎儿生长不良有关

Del Gobbo, Giulia F; Yin, Yue; Choufani, Sanaa; Butcher, Emma A; Wei, John; Rajcan-Separovic, Evica; Bos, Hayley; von Dadelszen, Peter; Weksberg, Rosanna; Robinson, Wendy P; Yuen, Ryan K C

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

多个遗传变异对一个有3个患病兄弟姐妹的自闭症谱系障碍(ASD)家庭的影响

Dhaliwal, Jasleen; Qiao, Ying; Calli, Kristina; Martell, Sally; Race, Simone; Chijiwa, Chieko; Glodjo, Armansa; Jones, Steven; Rajcan-Separovic, Evica; Scherer, Stephen W; Lewis, Suzanne

A genome-wide DNA methylation signature for SETD1B-related syndrome

SETD1B相关综合征的全基因组DNA甲基化特征

Krzyzewska, I M; Maas, S M; Henneman, P; Lip, K V D; Venema, A; Baranano, K; Chassevent, A; Aref-Eshghi, E; van Essen, A J; Fukuda, T; Ikeda, H; Jacquemont, M; Kim, H-G; Labalme, A; Lewis, S M E; Lesca, G; Madrigal, I; Mahida, S; Matsumoto, N; Rabionet, R; Rajcan-Separovic, E; Qiao, Y; Sadikovic, B; Saitsu, H; Sweetser, D A; Alders, M; Mannens, M M A M

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb

利用 ASPIREDdb 对复杂的表型-基因组数据集进行交互式探索、分析和可视化

Tan, Powell Patrick Cheng; Rogic, Sanja; Zoubarev, Anton; McDonald, Cameron; Lui, Frances; Charathsandran, Gayathiri; Jacobson, Matthew; Belmadani, Manuel; Leong, Justin; Van Rossum, Thea; Portales-Casamar, Elodie; Qiao, Ying; Calli, Kristina; Liu, Xudong; Hudson, Melissa; Rajcan-Separovic, Evica; Lewis, Me Suzanne; Pavlidis, Paul

Whole exome sequencing in recurrent early pregnancy loss

全外显子组测序在复发性早期流产中的应用

Qiao, Ying; Wen, Jiadi; Tang, Flamingo; Martell, Sally; Shomer, Naomi; Leung, Peter C K; Stephenson, Mary D; Rajcan-Separovic, Evica

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

外显子组测序在一名患有家族性 16p11.2 重复的患者中鉴定出 VPS13B 的致病性变异。

Dastan, Jila; Chijiwa, Chieko; Tang, Flamingo; Martell, Sally; Qiao, Ying; Rajcan-Separovic, Evica; Lewis, M E Suzanne

Genomic characteristics of miscarriage copy number variants

流产拷贝数变异的基因组特征

Bagheri, Hani; Mercier, Eloi; Qiao, Ying; Stephenson, Mary D; Rajcan-Separovic, Evica

Functional consequences of copy number variants in miscarriage

拷贝数变异对流产的功能性影响

Wen, Jiadi; Hanna, Courtney W; Martell, Sally; Leung, Peter Ck; Lewis, Suzanne Me; Robinson, Wendy P; Stephenson, Mary D; Rajcan-Separovic, Evica

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

对一组经过深度表型分析的智力障碍(ID)患者进行拷贝数变异(CNV)分析

Qiao, Ying; Mercier, Eloi; Dastan, Jila; Hurlburt, Jane; McGillivray, Barbara; Chudley, Albert E; Farrell, Sandra; Bernier, Francois P; Lewis, Me Suzanne; Pavlidis, Paul; Rajcan-Separovic, Evica

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

由于 2p13.2 反复微缺失导致胞外基因和视黄酸途径单倍体不足的表型和功能后果

Jiadi Wen, Fátima Lopes, Gabriela Soares, Sandra A Farrell, Cara Nelson, Ying Qiao, Sally Martell, Chansonette Badukke, Carlos Bessa, Bauke Ylstra, Suzanne Lewis, Nina Isoherranen, Patricia Maciel, Evica Rajcan-Separovic