Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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SDG 7 Affordable and Clean Energy
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SDG 16 Peace, Justice and Strong Institutions
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Collaborations and top research areas from the last five years
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Data Monitoring Committee: "An Open-label Ascending Dose Cohort Study to Assess the Safety,Pharmacokinetics, and Preliminary Efficacy of NeoGAA (GZ402666) in Patients with Infantile-onset PompeDisease Treated with Alglucosidase Alfa Who Demonstrate Cli
Berry, S. A. (PI)
2/15/19 → 12/31/27
Project: Research project
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Urea Cycle Disorders Consortium - Project 1
Berry, S. A. (PI)
8/1/23 → 7/31/25
Project: Research project
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Urea Cycle Disorders Consortium - Project(s) 1 (and 3, if applicable)
Berry, S. A. (PI)
8/1/21 → 7/31/22
Project: Research project
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Correction to: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine, (2025), 27, 1, (101289), (S1098360024002235), 10.1016/j.gim.2024.101289)
Smith, W. E., Berry, S. A., Bloom, K., Brown, C., Burton, B. K., Demarest, O. M., Jenkins, G. P., Malinowski, J., McBride, K. L., Mroczkowski, H. J., Scharfe, C. & Vockley, J., Jan 2026, In: Genetics in Medicine. 28, 1, 101602.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Corrigendum to “SIMD Concerns Over Federal Support Changes affecting Newborn Screening” [Molecular Genetics and Metabolism Volume 145, Issue 4, August 2025, 109190]. (Molecular Genetics and Metabolism (2025) 145(4), (S1096719225001817), (10.1016/j.ymgme.2025.109190))
Berry, S., Kanungo, S. & Cooney, E., Sep 1 2025, In: Molecular Genetics and Metabolism. 146, 1-2, 109218.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes
Breilyn, M. S., Simpson, K., Elsbecker, S. A., Barber, J. R., Bryan, K. & Berry, S. A., Apr 2025, In: Molecular Genetics and Metabolism. 144, 4, 109083.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
ACMG Board of Directors, Jan 2025, In: Genetics in Medicine. 27, 1, 101289.Research output: Contribution to journal › Article › peer-review
Open Access27 Link opens in a new tab Scopus citations -
SIMD concerns over federal support changes affecting newborn screening
Berry, S., Kanungo, S. & Cooney, E., Aug 2025, In: Molecular Genetics and Metabolism. 145, 4, 109190.Research output: Contribution to journal › Editorial › peer-review