Výsledky vyhledávání - "Erin E. Hughes"

Akademický článek

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

Autor: Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 4, p 73 (2021)

Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS impro

Externí odkaz: https://doaj.org/article/6481f5b849294e69b1df70935f9b46cb

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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

Autor: Melissa Leisner, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Erin E. Hughes, Robert J. Sicko, Helen Ling, Denise M. Kay

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 73, p 73 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 4

Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ce9fd81c8ddaa3d7945f7a569cf28
https://www.mdpi.com/2409-515X/7/4/73

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Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

Publikováno v: Human Mutation. 37:201-208

Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::190840d4d08a36ca68b1d2461e0003f9
https://doi.org/10.1002/humu.22927

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Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Autor: Lisa DiAntonio, Melissa P. Wasserstein, Xinying Hong, Sara Violante, Farideh Ghomashchi, Erin E. Hughes, Michele Caggana, Michael H. Gelb, Na Lin, Chunli Yu, Ruth Kornreich, Hui Zhou, Hsuan-Chieh Liao, Joseph J. Orsini, Arun Kumar, Jingyu Huang, Colleen F. Stevens

Publikováno v: Clinical chemistry. 63(4)

BACKGROUND Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe mor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443835dfd19104c18b3281f080808ba9
https://pubmed.ncbi.nlm.nih.gov/28196920

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Child Computer Use and Anthropometry

Autor: Erin E. Hughes, Peter Johnson

Publikováno v: Proceedings of the Human Factors and Ergonomics Society Annual Meeting. 55:1716-1719

Despite all of the literature that exists on ergonomic considerations for adult computer use, there is a deficit of established objective data on how computer input device designs may affect children. By applying the relevant anthropometric data from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60ba4d190bed9c15aa89442ea8f09dc9
https://doi.org/10.1177/1071181311551356

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Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

Publikováno v: Human mutation. 37(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::317e2b8bdd675fa79bf0c31423e33617
https://pubmed.ncbi.nlm.nih.gov/26538069

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Construct Validity of the Relationship Profile Test: Impact of Gender, Gender Role, and Gender Role Stereotype

Autor: Robert F. Bornstein, Erin E Hughes, Mary A Languirand, Kimberly J Geiselman, Heather A Gallagher, H. Mei Ng

Publikováno v: Journal of Personality Assessment. 82:104-113

Research supports the construct validity of the Relationship Profile Test (RPT; Bornstein & Languirand, 2003), a 30-item, self-report measure of destructive overdependence (DO), dysfunctional detachment (DD), and healthy dependency. In this investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b482f4afd453103738f346ec3d377f5
https://doi.org/10.1207/s15327752jpa8201_15

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Children computer mouse use and anthropometry

Autor: Peter Johnson, Erin E. Hughes

Publikováno v: Work (Reading, Mass.). 41

Studies have shown that increased computer use among adults in occupational settings is associated with the development of cumulative trauma disorders; however, the need to address how adult-sized mice and keyboards are affecting children is becoming

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8ae8dd2cd4daab64676ac4284b05c4
https://pubmed.ncbi.nlm.nih.gov/22316827

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