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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods longitudinal observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

机译：儿科基因组结果研究报告（PROGRESS）：一项混合方法纵向观察性队列研究方案旨在探索向未成年人及其父母披露可实施的成年和儿科发病基因组变体的方法

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摘要

PROGRESS flow diagram. P=Parent of minor (ages 0–17), A = Adolescent (ages 11–17), ES = exome sequencing

机译：进度流程图。 P =未成年父母（0-17岁），A =青少年（11-17岁），ES =外显子组测序

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期刊名称 BMC Pediatrics
作者
Juliann M. Savatt; Jennifer K. Wagner; Steven Joffe; Alanna Kulchak Rahm; Marc S. Williams; Angela R. Bradbury; F. Daniel Davis; Julie Hergenrather; Yirui Hu; Melissa A. Kelly; H. Lester Kirchner; Michelle N. Meyer; Jessica Mozersky; Sean M. O’Dell; Josie Pervola; Andrea Seeley; Amy C. Sturm; Adam H. Buchanan;
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年(卷),期 2020(20),-1
年度 2020
页码 -1
总页数 13
原文格式 PDF
正文语种
中图分类儿科学;
关键词
Return of genomic results; Genomic medicine; Secondary findings; Pediatrics;

机译：基因组结果的返回;基因组医学;二次发现;儿科;

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外文文献

1. Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents [J] . Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, BMC Pediatrics . 2020,第1期

机译：基因组结果研究的儿科报告（进展）：一种混合方法，纵向，观察队列研究方案，用于探讨可伸展的成人和儿科疾病和父母
2. Genomic studies in AIDS: problems and answers. Development of a statistical model integrating both longitudinal cohort studies and transversal observations of extreme cases. [J] . Huber C, Pons O, Hendel H, Biomedicine & pharmacotherapy =: Biomedecine & pharmacotherapie . 2003,第1期

机译：艾滋病基因组研究：问题与答案。建立整合纵向队列研究和极端病例横向观察的统计模型。
3. Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study [J] . David C. Kochan, Erin Winkler, Noralane Lindor, NPJ genomic medicine. . 2020,第1期

机译：返回结果在基因组实践研究中的挑战：可行变体的返回经验（Rave）研究
4. Protocol for The Toxin Study: Understanding clinical and patient reported response of children and young people with cerebral palsy to intramuscular lower limb Botulinum neurotoxin-A injections exploring all domains of the ICF. A pragmatic longitudinal observational study using a prospective one-group repeated measures design [O] . Lesley R Katchburian, Kate Oulton, Eleanor Main, 2021

机译：毒素研究的议定书：了解临床和患者报告儿童和青少年对脑瘫的反应对肌内麻痹到肌内下肢肉毒杆菌神经毒素 - 一种注射探索了ICF的所有领域。使用预期一组重复措施设计的务实纵向观察研究
5. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results [O] . Iftikhar J. Kullo, Janet Olson, Xiao Fan, 2018

机译：可操作变体的返回经验（Rave）研究，梅奥临床基因组医学实施研究：设计和初始结果

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods longitudinal observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

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