Angharad Roberts - Dissemin

Dissemin is shutting down on January 1st, 2025

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All papers authored by Angharad Roberts

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2024 Angharad M. Roberts

ORCID

, Marina T. DiStefano, Erin Rooney Riggs, Katherine S. Josephs, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh and 11 other authors

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

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