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

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy

对不明原因癫痫婴儿进行非诊断性短读长基因组测序后进行全面重新分析的诊断率

Nguyen, Jimmy N H; Lachgar-Ruiz, Maria; Higginbotham, Edward J; Coleman, Matthew; Coleman, John; Shao, Wanqing; Scotchman, Elizabeth; Pritchard, Ashley J; Bell, Katrina M; Chitty, Lyn S; Christodoulou, John; De Fazio, Paul; Deshwar, Ashish R; Eltze, Christin; Griffiths, Anna J S; Hassell, Jane; Jain, Puneet; Kaliakatsos, Marios; Liang, Nicole S Y; Lombard, Patrick; Marshall, Christian R; Marx, Catherine; McRae, Lyndsey; Mulhern, Sarah; Paternoster, Ben; Perez Caballero, Ana; Pipko, Neta; Sidhu, Jashanpreet; Smith, Lacey; Stark, Zornitza; Trost, Brett; Wakeling, Emma; White, Susan M; Yoong, Michael; Chandler, Natalie J; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Poduri, Annapurna; Howell, Katherine B; Stephenson, Sarah E M; McTague, Amy; Costain, Gregory; D'Gama, Alissa M

Parental Somatic Mosaicism Detected During Prenatal Diagnosis

产前诊断中检测到父母体细胞嵌合现象

Chandler, Natalie J; Scotchman, Elizabeth; McKay, Fiona; Ramachandran, Vijaya; Chitty, Lyn S

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

评估快速基因组测序在婴儿癫痫诊断中的可行性、诊断率和临床应用价值(Gene-STEPS):一项国际多中心试点队列研究

D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy

Non-invasive prenatal diagnosis (NIPD): current and emerging technologies

无创产前诊断(NIPD):当前和新兴技术

Hanson, Britt; Paternoster, Ben; Povarnitsyn, Nikita; Scotchman, Elizabeth; Chitty, Lyn; Chandler, Natalie

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

无创产前诊断(NIPD):母体血浆中游离DNA分析如何改变单基因疾病的产前诊断

Hanson, Britt; Scotchman, Elizabeth; Chitty, Lyn S; Chandler, Natalie J

Identification of mutants with increased variation in cell size at onset of mitosis in fission yeast

裂殖酵母有丝分裂开始时细胞大小变异性增加的突变体的鉴定

Scotchman, Elizabeth; Kume, Kazunori; Navarro, Francisco J; Nurse, Paul