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

Updated penetrance estimates for recurrent copy number variants - an improved definition and formula

更新了复发性拷贝数变异的渗透率估计值——改进的定义和公式

Goh, Shuxiang; Dudding-Byth, Tracy; Pinese, Mark; Kirk, Edwin P

Targeting the NPY/NPY1R signaling axis in mutant p53-dependent pancreatic cancer impairs metastasis.

针对突变型 p53 依赖性胰腺癌中的 NPY/NPY1R 信号轴进行治疗可抑制转移

Chambers Cecilia R, Watakul Supitchaya, Schofield Peter, Howell Anna E, Zhu Jessie, Tran Alice M H, Kuepper Nadia, Reed Daniel A, Murphy Kendelle J, Channon Lily M, Pereira Brooke A, Tyma Victoria M, Lee Victoria, Trpceski Michael, Henry Jake, Melenec Pauline, Abdulkhalek Lea, Nobis Max, Metcalf Xanthe L, Ritchie Shona, Cadell Antonia, Stoehr Janett, Magenau Astrid, Chacon-Fajardo Diego, Chitty Jessica L, O'Connell Savannah, Zaratzian Anaiis, Tayao Michael, Da Silva Andrew, Lyons Ruth J, Goldstein Leonard D, Dale Ashleigh, Rookyard Alexander, Connolly Angela, Crossett Ben, Tran Yen T H, Kaltzis Peter, Vennin Claire, Dinevska Marija, Croucher David R, Samra Jaswinder, Mittal Anubhav, Weatheritt Robert J, Philp Andrew, Del Monte-Nieto Gonzalo, Zhang Lei, Enriquez Ronaldo F, Cox Thomas R, Shi Yan-Chuan C, Pinese Mark, Waddell Nicola, Sim Hao-Wen, Chtanova Tatyana, Wang Yingxiao, Joshua Anthony M, Chantrill Lorraine, Evans Thomas R Jeffry, Gill Anthony J, Morton Jennifer P, Pajic Marina, Christ Daniel, Herzog Herbert, Timpson Paul, Herrmann David

Data-driven insights to inform splice-altering variant assessment

数据驱动的洞见可用于指导剪接改变变异体的评估

Sullivan, Patricia J; Quinn, Julian M W; Ajuyah, Pamela; Pinese, Mark; Davis, Ryan L; Cowley, Mark J

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Returning raw genomic data to research participants in a pediatric cancer precision medicine trial

将原始基因组数据返还给儿科癌症精准医疗试验的研究参与者

Barlow-Stewart, Kristine; Courtney, Eliza; Cowley, Mark; Ebzery, Camron; Fuentes Bolanos, Noemi; Gifford, Andrew J; Harden, Hazel; Josephi-Taylor, Sarah; Kotecha, Rishi S; Mateos, Marion K; Manzur, Mitali; Mayoh, Chelsea; Milnes, Di; Nielsen, Jane; O'Connor, Matthew; Padhye, Bhavna; Pitman, Catherine; Pitman, Elizabeth; Pinese, Mark; Speechly, Catherine; Sullivan, Ashleigh; Trahair, Toby; Tucker, Katherine; Tyrrell, Vanessa; Warby, Meera; Wood, Andrew; Ziegler, David S; Johnston, Carolyn

Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial

作者更正:向儿科癌症精准医疗试验的研究参与者返还原始基因组数据

Barlow-Stewart, Kristine; Courtney, Eliza; Cowley, Mark; Ebzery, Camron; Fuentes Bolanos, Noemi; Gifford, Andrew J; Harden, Hazel; Josephi-Taylor, Sarah; Kotecha, Rishi S; Mateos, Marion K; Manzur, Mitali; Mayoh, Chelsea; Milnes, Di; Nielsen, Jane; O'Connor, Matthew; Padhye, Bhavna; Pitman, Catherine; Pitman, Elizabeth; Pinese, Mark; Speechly, Catherine; Sullivan, Ashleigh; Trahair, Toby; Tucker, Katherine; Tyrrell, Vanessa; Warby, Meera; Wood, Andrew; Ziegler, David S; Johnston, Carolyn

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants

SpliceVarDB:一个包含经实验验证的人类剪接变体的综合数据库

Sullivan, Patricia J; Quinn, Julian M W; Wu, Weilin; Pinese, Mark; Cowley, Mark J

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Introme能够准确预测编码和非编码变异对基因剪接的影响,并具有临床应用价值。

Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J

Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial

父母对儿童癌症精准医疗试验中生殖系检测结果的期望、偏好和回忆

McGill, Brittany C; Wakefield, Claire E; Tucker, Katherine M; Daly, Rebecca A; Donoghoe, Mark W; Vetsch, Janine; Warby, Meera; Fuentes-Bolanos, Noemi A; Barlow-Stewart, Kristine; Kirk, Judy; Courtney, Eliza; O'Brien, Tracey A; Marshall, Glenn M; Pinese, Mark; Cowley, Mark J; Tyrrell, Vanessa; Deyell, Rebecca J; Ziegler, David S; Hetherington, Kate

Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial

精准医疗正在改变医疗保健专业人员、科学家和研究人员的角色:来自一项儿童癌症精准医疗试验的经验教训

Daly, Rebecca; Hetherington, Kate; Hazell, Emily; Wadling, Bethany R; Tyrrell, Vanessa; Tucker, Katherine M; Marshall, Glenn M; Ziegler, David S; Lau, Loretta M S; Trahair, Toby N; O'Brien, Tracey A; Collins, Kiri; Gifford, Andrew J; Haber, Michelle; Pinese, Mark; Malkin, David; Cowley, Mark J; Karpelowsky, Jonathan; Drew, Donna; Jacobs, Chris; Wakefield, Claire E