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

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts

利用两阶段全基因组DNA测序策略,在癌症聚集性家族和人群病例对照队列中鉴定新的肉瘤风险基因

Jones, Rachel M; Melton, Phillip E; Pinese, Mark; Rea, Alexander J; Ingley, Evan; Ballinger, Mandy L; Wood, David J; Thomas, David M; Moses, Eric K

The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivity testing in sarcoma

利用全外显子组测序和鼠源患者异种移植模型作为肉瘤化疗敏感性检测的方法

Calvert, Nicholas; Wu, Jiansha; Sneddon, Sophie; Woodhouse, Jennifer; Carey-Smith, Richard; Wood, David; Ingley, Evan

Functions of the Lyn tyrosine kinase in health and disease

Lyn酪氨酸激酶在健康和疾病中的功能

Ingley, Evan

A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture

CYP19A1基因Arg264Cys(rs700519)的非同义编码改变不影响循环雌二醇、骨骼结构或骨折

Wang, Jenny Z; Deogan, Mandeep S; Lewis, Joshua R; Chew, Shelby; Mullin, Ben H; McNab, Tegan J; Wilson, Scott G; Ingley, Evan; Prince, Richard L