Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant
2023 · Rare · 6 citations
https://doi.org/10.1016/j.rare.2023.100017
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Anna Bonfitto
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Anna Bonfitto is an academic researcher from Translational Genomics Research Institute. The author has contributed to research in topics: Epigenetics and DNA Methylation & Adipose Tissue and Metabolism & Genomics and Rare Diseases. The author has an h-index of 4, co-authored 18 publications.
Papers by this author
worksDivergent multiomic acute exercise responses reveal the impact of sex as a biological variable
2025 · Physiological Genomics · 5 citations
https://doi.org/10.1152/physiolgenomics.00055.2024
Expanded carrier screening for inherited genetic disease using exome and genome sequencing
2024 · Journal of Genetic Counseling · 3 citations
https://doi.org/10.1002/jgc4.1964
P226: Genome sequencing after negative exome sequencing: Results in a rare disease cohort
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.102191
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