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Simona Bianconi

Eunice Kennedy Shriver National Institute of Child Health and Human Development · US
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Area of research
Physiology · Surgery
Research interest
Research interests include Missense mutation, Creatine, Medicine, Interpretation (philosophy), and Neuroscience.
h-index
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citations
0
works
1
NIH funding
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primary concept
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email
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Recent publications

P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
Genetics in Medicine Open 2024cited by 0position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Amanda Thomas‐Wilson · New York Genome Center1 papers (2024–2024)Saadet Mercimek‐Andrews · Hospital for Sick Children1 papers (2024–2024)— · 1 papers (2024–2024)— · 1 papers (2024–2024)Christine Preston · Palo Alto University1 papers (2024–2024)Jenny Goldstein · University of North Carolina at Chapel Hill1 papers (2024–2024)Emily Groopman · Columbia University1 papers (2024–2024)Daniel S. Reich · National Institutes of Health1 papers (2024–2024)Nicole Si Yan Liang · Hospital for Sick Children1 papers (2024–2024)Nicola Longo · University of Utah1 papers (2024–2024)Sarah Young · University of Sheffield1 papers (2024–2024)— · 1 papers (2024–2024)Vimla S. Aggarwal · Columbia University1 papers (2024–2024)
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