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Publication date Communities Collections Article title Author(s) Journal/Conference
25 Mar 2026 BMRC Bioinformatics Institute Translating multi-omics into healthcare: requisites for scalable and equitable implementation (Pending publish) Birute Tumiene, David R. Adams, Robert Allaway, Maria J. Barrero, Chun-Hung Chan, Víctor Faundes, Vanessa S. Fear, Polina Glezer, Claudia Fuchs, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Mary Catherine V. Letinturier, Richa Madan Lomash, Ratna Dua Puri, Juergen K. V. Reichardt, Ruty Mehrian-Shai, Francois H. van der Westhuizen, Gaurav K. Varshney, Shinya Yamamoto, Gareth Baynam Human Genomics
26 Feb 2026 BMRC Bioinformatics Institute Reimagining care of people living with rare diseases with artificial intelligence (Pending publish) Tudor Groza, Gareth Baynam, Saumya Shekhar Jamuar PLOS Medicine
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
9 Dec 2025 BMRC Bioinformatics Institute The United Nations convention on rare diseases—A framework for research prioritization (Pending publish) Mohammed Junaid, Jenny Downs, Tudor Groza, Timo Lassmann, Sue Baker, Kaila Stevens, Jake Keeffe, Dylan Gration, Amanda Newell, Jamie Duckers, Gareth Baynam Frontiers in Public Health
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
16 Apr 2025 BMRC Bioinformatics Institute First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case (Pending publish) Tudor Groza, Warittha Rayabsri, Dylan Gration, Harshini Hariram, Saumya Shekhar Jamuar, Gareth Baynam The American Journal of Human Genetics