Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Andreas Rohrwasser"'
Autor:
Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J. Butterfield
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 54 (2024)
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting i
Externí odkaz:
https://doaj.org/article/7efbce1f4e0e4fc3bc7fb7f10d970352
Autor:
Pooja Gupta, Stefan Liao, Maleea Ezekiel, Nicolle Novak, Alessandro Rossi, Nathan LaCross, Kelly Oakeson, Andreas Rohrwasser
Publikováno v:
Microbiology Spectrum, Vol 11, Iss 3 (2023)
ABSTRACT Wastewater-based epidemiology has emerged as a powerful public health tool to trace new outbreaks, detect trends in infection, and provide an early warning of COVID-19 community spread. Here, we investigated the spread of SARS-CoV-2 infectio
Externí odkaz:
https://doaj.org/article/b760b69e985f46b898aef6d5d7a9363e
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background & Objectives This study aims to explore and elucidate parents’ experience of newborn screening [NBS], with the overarching goal of identifying desiderata for the development of informatics-based educational and health management
Externí odkaz:
https://doaj.org/article/82d60e9feda34d16972012b36e85056e
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100421- (2023)
Externí odkaz:
https://doaj.org/article/2939bd0942e34612b7926280bae63b8e
Autor:
Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, t
Externí odkaz:
https://doaj.org/article/41ab3a50602847f5af0ca36577a457d0
Autor:
David Jones, Jianyin Shao, Heidi Wallis, Cody Johansen, Kim Hart, Marzia Pasquali, Ramkiran Gouripeddi, Andreas Rohrwasser
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 70 (2021)
As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associat
Externí odkaz:
https://doaj.org/article/64845c80efb54f23a805be33121e9a44
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 63 (2021)
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequenc
Externí odkaz:
https://doaj.org/article/07083d3968ef4992996857e1263c136f
Autor:
Kelly F. Oakeson, Jennifer Marie Wagner, Michelle Mendenhall, Andreas Rohrwasser, Robyn Atkinson-Dunn
Publikováno v:
Emerging Infectious Diseases, Vol 23, Iss 9, Pp 1441-1445 (2017)
The ability to generate high-quality sequence data in a public health laboratory enables the identification of pathogenic strains, the determination of relatedness among outbreak strains, and the analysis of genetic information regarding virulence an
Externí odkaz:
https://doaj.org/article/30e0f7d92059420e86a97b9186ac754c
Autor:
Patricia Galvin-Parton, Andreas Rohrwasser, Nicola Longo, Mark A. Morrissey, Kim Hart, Jianyin Shao, Michele Caggana, Taylor Anderson, Heidi Wallis, Matthew Wojcik, Nicolas Szabo-Fresnais, Heather Golsan, Denise M. Kay, Xiaoli Wang, Marzia Pasquali
Publikováno v:
Molecular Genetics and Metabolism. 134:60-64
Introduction Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited metabolic disorder that impairs the synthesis of creatine (CRE). Lack of CRE in the brain can cause intellectual disability, autistic-like behavior, seizures, and movem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee4faf7c72effc2ddb20aa0bacbdfd0
https://doi.org/10.1016/j.ymgme.2021.07.012
https://doi.org/10.1016/j.ymgme.2021.07.012
Autor:
Pooja Gupta, Stefan Liao, Maleea Ezekiel, Nicolle Novak, Alessandro Rossi, Nathan LaCross, Kelly Oakeson, Andreas Rohrwasser
Wastewater-based epidemiology has emerged as a powerful public health tool to trace new outbreaks, detect trends in infection and provide an early warning of COVID-19 community spread. Here, we investigated the spread of SARS-CoV-2 infections across
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193c14ff8a4521162b2906568825ccd6
https://doi.org/10.1101/2022.11.24.22282643
https://doi.org/10.1101/2022.11.24.22282643
