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Mafalda Barbosa on Muck Rack

Mafalda Barbosa

As seen in: Nature, Jornal i, The American Journal of Human Genetics, Dialnet - Universidad de La Rioja
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Articles

Forbidden uses of AI and liability

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By Mafalda Barbosa
| Dialnet - Universidad de La Rioja
Adopting a risk-based approach, categorised into unacceptable risk, high risk, and minimal or no risk, along with a specific transparency risk, Article 5 of the AI Act prohibits the placing on the market, the putting into service, or the use of certain AI systems.
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Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

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By Daniel Greene, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Jon Lees Verified, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, Alice Brooks, Kimberly Ezell, Natalia Gomez-Ospina, Michael F. O’Donoghue, Lynette Rives, Vandana Shashi, Rebecca C. Spillmann, Mohamed Wafik, Kathleen Freson, Tahsin Stefan Barakat, Marco Tartaglia, Jonathan Bernstein, Andrew Mumford, Matthew Wheeler, Ernest Turro
| Nature Verified
Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02539-5, published online 30 March 2026. In the version of the article initially published, in Fig. 5a, the arrow at position 52 from “G” to “A” was missing. In Fig. 5b, the arrow at position 8 from “C” to “U” was missing, the “80” label at position 90 should have read “90”, and the “1,160” label at position 160 should have read “160”. These corrections have been made to the HTML and PDF versions of the article.
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

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By Daniel Greene, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Jon Lees Verified, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, Alice Brooks, Thomas A. Cassini, Kimberly Ezell, Natalia Gomez-Ospina, Michael F. O’Donoghue, Lynette Rives, Vandana Shashi, Rebecca C. Spillmann, Mohamed Wafik, Kathleen Freson, Tahsin Stefan Barakat, Marco Tartaglia, Jonathan Bernstein, Andrew Mumford, Matthew Wheeler, Ernest Turro
| Nature Verified
Abstract We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs). Here, by genetic association, we demonstrate the existence of a recessive form of RNU2-2 syndrome.
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