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

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis

超越检测：比较各州新生儿筛查方法在有效诊断粘多糖贮积症 I 方面的差异

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns12010015
Thampy, Rithika; Pillai, Nishitha R; Evans, Michael; Whitley, Chester B; Orchard, Paul J; Ellinwood, Matthew; Gaviglio, Amy
发表日期：2026
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Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023

2016-2023年美国婴儿脊髓性肌萎缩症检测及时性趋势

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns12010009
Grosse, Scott D; Hong, Kai; Yazdanpanah, Golriz K; Nash, Ashley; Gaviglio, Amy; Gaffney, Marcus; Lawrence, Kendra A K; Kwon, Jennifer M
神经科学
肌萎缩症
发表日期：2026
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Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

将分子检测纳入新生儿先天性肾上腺皮质增生症筛查能否提高准确性？

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae297
Sarafoglou, Kyriakie; Gaviglio, Amy; Wolf, Carrie; Lorentz, Cindy P; Lteif, Aida; Kyllo, Jennifer; Radloff, Gretchen; Detwiler, Zachary; Cuthbert, Carla D; Hodges, James S; Grosse, Scott D; Greene, Christopher N; Cordovado, Suzanne
免疫/内分泌
发表日期：2025
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Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States

新生儿基因筛查（NBS）参与式工作流程分析，旨在支持改进后续随访的工具：比较美国各州血红蛋白病特征的应用案例

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11020040
Taber, Peter; Baysinger, Jennifer; Daniels, Sierra; Diaz-Kincaid, Natalie; Gaviglio, Amy; Ginter, Jacob; Held, Patrice K; Reeves, Emily; Sack, Virginia; Weaver, Jennifer; Eilbeck, Karen
发表日期：2025
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A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)

一项关于新生儿筛查结果呈阳性后，父母接受遗传咨询的定性研究（针对推荐统一筛查方案 (RUSP) 中新增的疾病）

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11040101
Hricovec, Macie; Gaviglio, Amy; Mealwitz, Christina; Merrill, Michelle; Goldenberg, Aaron J
发表日期：2025
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ISNS General Guidelines for Neonatal Bloodspot Screening 2025

ISNS 2025 年新生儿血斑筛查通用指南

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11020045
Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Baker, Mei; Cheillan, David; Chabraoui, Layachi; Abdoh, Ghassan; Cabello, Juan; Giugliani, Roberto; Platis, Dimitris; Østrup, Jan; Howell, R Rodney; Schielen, Peter C J I; Bonham, James R
发表日期：2025
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Newborn Screening-A Worldwide Endeavour to Protect

新生儿筛查——一项旨在保护新生儿的全球性努力

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11030080
Bonham, James R; Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Howell, R Rodney; Schielen, Peter C J I
发表日期：2025
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Accelerating an Olympic Decathlete's Return to Competition Using High-Frequency Blood Flow Restriction Training: A Case Report

利用高频血流限制训练加速奥运十项全能运动员重返赛场：病例报告

期刊:
影响因子:
doi:10.3390/sports13120436
Gaviglio, Chris; Bird, Stephen P
发表日期：2025
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It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule

是时候重新考虑新生儿筛查RUSP前瞻性试点研究的“N=1”规则了。

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108352
Gelb, Michael H; Matern, Dietrich; Ellinwood, Matthew; Gaviglio, Amy
发表日期：2024
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Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation's global rare pediatric disease network

医院管理者作为罕见病护理中被遗忘的合作伙伴：国际医院联盟全球罕见儿科疾病网络的行动呼吁

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03459-5
Stoesz, Andrea; Joers, Barbara; Gaviglio, Amy
发表日期：2024
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