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23 Dec 2025 BMRC Bioinformatics Institute GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders (Pending publish) Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S.L. Graefe, Viktor Bily, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica X. Chong, Evan Connelly, Bert B.A. de Vries, Alexander J.M. Dingemans, Michael H. Duyzend, Tomas Freiberger, Petra Gehle, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Markus S. Ladewig, Michael I. Love, Allison J. Marcello, Alexander Mordhorst, Monica C. Munoz-Torres, Justin Reese, Catharina Schuetz, Damian Smedley, Timmy Strauss, Ondrej Vladyka, David Zocche, Sylvia Thun, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson The American Journal of Human Genetics
11 Dec 2025 BMRC Bioinformatics Institute A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease? (Pending publish) Tudor Groza, Allison J. Marcello, Tristan Carlisle, Weng Khong Lim, Melissa Haendel, Neerja Karnani, Peter N. Robinson, Holm Graessner, Jessica X. Chong, Gareth Baynam, Saumya Shekhar Jamuar Human Genetics and Genomics Advances