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

The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases

长读长测序在未确诊罕见病诊断中的额外价值

Del Gobbo, Giulia F; Boycott, Kym M

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium

加拿大罕见病护理联盟中未确诊成人发病型共济失调患者的FGF14 GAA内含子扩增

Cuillerier, Alexanne; Del Gobbo, Giulia F; Mackay, Layla; Wall, Erika; Couse, Madeline; McDonell, Laura M; Cloutier, Mireille; Danzi, Matt C; Warman-Chardon, Jodi; Bourque, Pierre R; Suchowersky, Oksana; Mears, Alan; Seldenthuis, Luke; Mears, Wendy; Larrigan, Laura; White-Brown, Alexandre; Pfeffer, Gerald; Bulman, Dennis E; Dyment, David; Boycott, Kym M

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, Ashton Catherine, Agarwal Aman, Peter Cyril, Hasson Dan, Tsankova Nadejda M, Dewar Ken, Lamont Phillipa J, Laing Nigel G, Renaud Mathilde, Houlden Henry, Synofzik Matthis, Usdin Karen, Nussenzweig Andre, Napierala Marek, Chen Zhao, Jiang Hong, Deveson Ira W, Ravenscroft Gianina, Akbarian Schahram, Eberle Michael A, Boycott Kym M, Pastinen Tomi, Brais Bernard, Zuchner Stephan, Danzi Matt C

Sex-dependent placental methylation quantitative trait loci provide insight into the prenatal origins of childhood onset traits and conditions

性别依赖性胎盘甲基化数量性状位点为了解儿童期发病特征和疾病的产前起源提供了重要线索。

Casazza, William; Inkster, Amy M; Del Gobbo, Giulia F; Yuan, Victor; Delahaye, Fabien; Marsit, Carmen; Park, Yongjin P; Robinson, Wendy P; Mostafavi, Sara; Dennis, Jessica K

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

Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report

局限性胎盘嵌合体,涉及多个新发拷贝数变异,并伴有胎儿生长受限:病例报告

Del Gobbo, Giulia F; Yuan, Victor; Robinson, Wendy P

The significance of the placental genome and methylome in fetal and maternal health

胎盘基因组和甲基化组在胎儿和母体健康中的重要性

Del Gobbo, Giulia F; Konwar, Chaini; Robinson, Wendy P

Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis

胎盘白细胞介素-6基因变异(rs1800796)与DNA甲基化、基因表达及急性绒毛膜羊膜炎风险的关联

Konwar, Chaini; Del Gobbo, Giulia F; Terry, Jefferson; Robinson, Wendy P

No evidence for association of MTHFR 677C>T and 1298A>C variants with placental DNA methylation

没有证据表明 MTHFR 677C>T 和 1298A>C 变异与胎盘 DNA 甲基化相关

Del Gobbo, Giulia F; Price, E Magda; Hanna, Courtney W; Robinson, Wendy P