Concepedia
5
Publications
129
Citations
H-Index
2020
Active since
Affiliations
Nationwide Children's Hospital(Current)
The Ohio State University
Children's National
Amy Siemon is an author at Nationwide Children's Hospital.
Publications per year
2020–2022
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn Peck, Jean M. Lacey, Amy White et al. · International Journal of Neonatal Screening · 2020 · 42 citations · Full text
Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N. Gong et al. · Science Advances · 2021 · 32 citations · Full text
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
Volkan Okur, Zefu Chen, Liesbeth Vossaert et al. · npj Genomic Medicine · 2021 · 26 citations · Full text
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
Jesse M. Hunter, Lauren Massingham, Kandamurugu Manickam et al. · Molecular Case Studies · 2022 · 17 citations · Full text
A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease
Laiken Peterson, Amy Siemon, Leah Olewiler et al. · Journal of Genetic Counseling · 2021 · 12 citations
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