Publications by authors named "M Distefano"

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Interpreting the functional impact of genetic variants: The need for context qualifiers.
Simone Martinelli, Hélène Cavé, Alessandro De Luca, Marina DiStefano, Rachel Karchin

Am J Hum Genet· January 2026

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PARPi and myeloid neoplasms; the Italian MITO-MaNGO experience based on a multicentric survey.
M Turinetto, C Marchetti, G Scandurra, N Colombo, G Cormio, M Distefano

ESMO Open· December 2025

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Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.
Joan Pera, Damia Romero-Moya, Eric Torralba-Sales, Rebecca Andersson, Violeta García-Hernández, Maximiliano Distefano

Nat Commun· November 2025

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Patient Preferences for Dementia Interventions: A Scoping Review With a Systematic Review of Medications and Choice-Based Methods.
Ravi Gupta, Shanshan Lin, Michael J DiStefano, Hyun Yi Jacqualine Woo, Emily Mao

J Am Geriatr Soc· November 2025

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Ryan F Webb, Hannah McCurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Marina DiStefano

J Bone Miner Res· November 2025

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