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

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line

使用先进的交叉线对小鼠心脏房间分隔的遗传复杂性进行定量性状和转录组分析

Mahdi Moradi Marjaneh #, Edwin P Kirk #, Ralph Patrick #, Dimuthu Alankarage, David T Humphreys, Gonzalo Del Monte-Nieto, Paola Cornejo-Paramo, Vaibhao Janbandhu, Tram B Doan, Sally L Dunwoodie, Emily S Wong, Chris Moran, Ian C A Martin, Peter C Thomson, Richard P Harvey

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Myhre 综合征是由 SMAD4 和其他辅助因子的显性负性失调引起的

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steiner, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

功能基因组学和基因-环境相互作用凸显了 Notch 通路变异引起的先天性心脏病的复杂性

Gavin Chapman, Julie L M Moreau, Eddie I P, Justin O Szot, Kavitha R Iyer, Hongjun Shi, Michelle X Yam, Victoria C O'Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella M M A Martin, Bernadette C Hanna, Matthew Edwards, Steven Monger, Gillian M Blue, David S Winlaw, Helen E Ritch

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

在患有先天性心脏病的患者中发现的新型 PBX1 从头错义变异的功能表征

Dimuthu Alankarage, Justin O Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L Dunwoodie