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A

Amy Gaviglio

connetics consulting llc
H指数:17
被引数:852

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Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes

黏多糖贮积症II型筛查、诊断和管理：文献综述及对新生儿筛查计划与医疗保健提供者的实用建议，以支持家庭并改善预后

International Journal of Neonatal Screening
IF4
2026-08-130
OA
Amy Gaviglio; Natasha Bonhomme; Barbara Burton; Norman Matthew Ellinwood; Joseph Muenzer; Kim Stephens; Ravi Pathak; Carolyn Schaeffer-Koziol
ASSESSMENT OF TREC-BASED NBS SCID REPORTING PRACTICES FOR HARMONIZATION OF RESULTS AND INTERPRETATION: A GLOBAL SURVEY

基于TREC的NBS SCID报告实践评估：结果与解释的协调性全球调查

The Journal of Allergy and Clinical Immunology: In Practice
IF6.6
2026-03-110
PRE
Jahnavi Aluri; Amy Gaviglio; Isaac Kistler; Dianne Webster; Anne Pham-Huy; Monica G. Lawrence; Joyce E. Yu; Jovanka King; Muatasem Alsuweiti; Madara Auzenbaha; Tadej Avcin; Caner Aytekin; Marie Baekvad-Hansen; Yin-Hsiu Chien; Peter Ciznar; Anders Fasth; Elisabeth Förster-Waldl; Kimberly Gilmour; David Hagin; Kohsuke Imai
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)

关于在推荐统一筛查计划（RUSP）中新增条件下，新生儿筛查呈阳性后遗传咨询中父母经历的一项定性研究

International Journal of Neonatal Screening 2025, Vol. 11, Page 101
IF4
2025-10-300
OAAI
Macie Hricovec; Amy Gaviglio; Christina Mealwitz; Michelle Merrill; Aaron J. Goldenberg
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

参与式工作流分析新生儿遗传筛查（NBS）以支持改进随访工具：比较美国各州血红蛋白病性状的使用案例

International Journal of Neonatal Screening 2025, Vol. 11, Page 40
IF4
2025-09-290
OAAI
Peter Taber; Jennifer Baysinger; Sierra Daniels; Natalie Diaz-Kincaid; Amy Gaviglio; Jacob Ginter; Patrice K. Held; Emily Reeves; Virginia Sack; Jennifer Weaver; Karen Eilbeck
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

参与式工作流程分析新生儿遗传筛查（NBS）以支持改进随访的工具：比较血红蛋白病特征在美国各州的应用案例

International Journal of Neonatal Screening 2025, Vol. 11, Page 40
IF4
2025-08-210
PRE
Peter Taber; Jennifer Baysinger; Sierra Daniels; Natalie Diaz-Kincaid; Amy Gaviglio; Jacob Ginter; Patrice K. Held; Emily Reeves; Virginia Sack; Jennifer Weaver; Karen Eilbeck
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
CYTOTHERAPY
IF3.2
2024-07-017
PRE
Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

结合分子检测能否提高先天性肾上腺皮质增生症新生儿筛查的准确性？

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2024-05-030
OA
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

研究方向

暂未获取到该数据
D
Dianne Webster
H 指数:27论文数:134被引数:3,476
M
Mei Baker
H 指数:26论文数:87被引数:3,240
K
Kyriakie Sarafoglou
H 指数:27论文数:134被引数:2,585
J
Jelili Ojodu
H 指数:21论文数:71被引数:1,639
S
Sikha Singh
H 指数:12论文数:36被引数:427
P
Paul J. Orchard
H 指数:61论文数:424被引数:1.7万
N
N. Matthew Ellinwood
H 指数:26论文数:125被引数:2,319
A
Aysha Habib Khan
H 指数:21论文数:203被引数:2,289
P
Peter C. J. I. Schielen
H 指数:33论文数:129被引数:3,634
R
R. Rodney Howell
H 指数:50论文数:217被引数:9,488