Amy Siemon
Biochemistry, Genetics and Molecular Biology · The Ohio State University
Publications
12
Citations
157
Est. group size
—
Recurring co-author estimate
Active years
7
Publishing since 2020
Amy Siemon's work focuses on identifying genetic causes of rare neurodevelopmental and metabolic disorders, including studies of chromatin-related genes (like SMARCA5 and histone genes) linked to developmental delay and brain abnormalities. She has also contributed to research on newborn screening programs, examining how to improve test accuracy and how families experience false-positive results for conditions like Krabbe disease and mucopolysaccharidosis. This research combines clinical genetics with public health screening evaluation.
Publication output was minimal before 2020, rose to a small peak of activity between 2020 and 2022, then dropped off with only sporadic output through 2026.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Science Advances · 2021
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
npj Genomic Medicine · 2021
- A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease
Journal of Genetic Counseling · 2021
- Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
International Journal of Neonatal Screening · 2020
- Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
medRxiv · 2020
- Molecular Genetics and Metabolism×2
- International Journal of Neonatal Screening×1
- Science Advances×1
- npj Genomic Medicine×1
- Journal of Genetic Counseling×1
- Scott E. Hickey
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Mariam Mathew
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Matthew Pastore
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Kayla Treat
Biochemistry, Genetics and Molecular Biology · Indiana University
- Francesco Vetrini
Biochemistry, Genetics and Molecular Biology · Indiana University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
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