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

Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine

肝母细胞瘤的定量 ctDNA 检测:对精准医疗的意义

Smadar Kahana-Edwin, James Torpy, Lucy E Cain, Anna Mullins, Geoffrey McCowage, Sarah E Woodfield, Sanjeev A Vasudevan, Dan P T Shea, Andre E Minoche, Andres F Espinoza, Sarah Kummerfeld, Leonard D Goldstein, Jonathan Karpelowsky

The Australian dingo is an early offshoot of modern breed dogs

澳大利亚野狗是现代犬种的早期分支

Matt A Field, Sonu Yadav, Olga Dudchenko, Meera Esvaran, Benjamin D Rosen, Ksenia Skvortsova, Richard J Edwards, Jens Keilwagen, Blake J Cochran, Bikash Manandhar, Sonia Bustamante, Jacob Agerbo Rasmussen, Richard G Melvin, Barry Chernoff, Arina Omer, Zane Colaric, Eva K F Chan, Andre E Minoche, Tim

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

利用全基因组测序进行线粒体疾病诊断

Davis, Ryan L; Kumar, Kishore R; Puttick, Clare; Liang, Christina; Ahmad, Kate E; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E; Gayevskiy, Velimir; Mallawaarachchi, Amali C; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E; Cowley, Mark J; Sue, Carolyn M

Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models

深度全基因组测序可识别常用乳腺癌细胞系和患者来源的异种移植模型中反复出现的基因组改变。

Deng, Niantao; Minoche, Andre; Harvey, Kate; Li, Meng; Winkler, Juliane; Goga, Andrei; Swarbrick, Alex

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

全基因组测序、靶向检测和功能研究加深了对隐性遗传性视网膜营养不良的理解

Nash, Benjamin M; Ma, Alan; Ho, Gladys; Farnsworth, Elizabeth; Minoche, Andre E; Cowley, Mark J; Barnett, Christopher; Smith, Janine M; Loi, To Ha; Wong, Karen; St Heaps, Luke; Wright, Dale; Dinger, Marcel E; Bennetts, Bruce; Grigg, John R; Jamieson, Robyn V

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

孟德尔遗传病的全外显子组和全基因组测序:诊断和卫生经济学分析

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

由ATAD3基因座复发性新生重复引起的致命性围产期线粒体心脏衰竭

Ann E Frazier ,Alison G Compton ,Yoshihito Kishita ,Daniella H Hock ,AnneMarie E Welch ,Sumudu S C Amarasekera ,Rocio Rius ,Luke E Formosa ,Atsuko Imai-Okazaki ,David Francis ,Min Wang ,Nicole J Lake ,Simone Tregoning ,Jafar S Jabbari ,Alexis Lucattini ,Kazuhiro R Nitta ,Akira Ohtake ,Kei Murayama ,David J Amor ,George McGillivray ,Flora Y Wong ,Marjo S van der Knaap ,R Jeroen Vermeulen ,Esko J Wiltshire ,Janice M Fletcher ,Barry Lewis ,Gareth Baynam ,Carolyn Ellaway ,Shanti Balasubramaniam ,Kaustuv Bhattacharya ,Mary-Louise Freckmann ,Susan Arbuckle ,Michael Rodriguez ,Ryan J Taft ,Simon Sadedin ,Mark J Cowley ,André E Minoche ,Sarah E Calvo ,Vamsi K Mootha ,Michael T Ryan ,Yasushi Okazaki ,David A Stroud ,Cas Simons ,John Christodoulou ,David R Thorburn

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

ClinSV:基于全基因组测序数据的临床级结构变异和拷贝数变异检测

Minoche, Andre E; Lundie, Ben; Peters, Greg B; Ohnesorg, Thomas; Pinese, Mark; Thomas, David M; Zankl, Andreas; Roscioli, Tony; Schonrock, Nicole; Kummerfeld, Sarah; Burnett, Leslie; Dinger, Marcel E; Cowley, Mark J

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

通过全基因组测序在未选择的脑瘫患者中发现具有临床报告价值的遗传变异

van Eyk, C L; Webber, D L; Minoche, A E; Pérez-Jurado, L A; Corbett, M A; Gardner, A E; Berry, J G; Harper, K; MacLennan, A H; Gecz, J

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

多囊肾病基因组诊断:全基因组测序在实际应用中的评估

Mallawaarachchi, Amali C; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R; Gayevskiy, Velimir; Minoche, Andre E; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E; Rangan, Gopala; Cowley, Mark J; Harris, Peter C; Burnett, Leslie; Shine, John; Furlong, Timothy J