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Publication date Communities Collections Article title Author(s) Journal/Conference
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
25 Nov 2025 BMRC Bioinformatics Institute Information content as a health system screening tool for rare diseases (Pending publish) Tudor Groza, Peter N. Robinson, Weng Khong Lim, Kaavya Narasimhalu, Jenny Hsieh, Khung Keong Yeo, Goh Bee Keow, Terrence Thomas, Tien Yin Wong, Neerja Karnani, Gareth Baynam, Saumya Shekhar Jamuar npj Digital Medicine
27 Aug 2015 BMRC Institute of Molecular and Cell Biology Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Paulina Bahena, Sara L. Reichert, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Stefan Mundlos, Uwe Kornak, Peter N. Robinson, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade The American Journal of Human Genetics