methods

Refining nosology by modelling variation among facial phenotypes: the RASopathies
Harold Matthews, Michiel Vanneste, Kaitlin Katsura, David Aponte, Michael Patton, Peter Hammond, Gareth Baynam, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

Journal of Medical Genetics Mar 2023, 60 (3) 285-293; DOI: 10.1136/jmedgenet-2021-108366
Blood functional assay for rapid clinical interpretation of germline TP53 variants
Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

Journal of Medical Genetics Dec 2021, 58 (12) 796-805; DOI: 10.1136/jmedgenet-2020-107059

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methods