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25 Mar 2026
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BMRC
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Bioinformatics Institute
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Translating multi-omics into healthcare: requisites for scalable and equitable implementation (Pending publish)
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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
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Human Genomics
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26 Feb 2026
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BMRC
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Bioinformatics Institute
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Reimagining care of people living with rare diseases with artificial intelligence (Pending publish)
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Tudor Groza,
Gareth Baynam,
Saumya Shekhar Jamuar
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PLOS Medicine
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23 Dec 2025
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BMRC
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Bioinformatics Institute
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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders (Pending publish)
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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
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The American Journal of Human Genetics
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11 Dec 2025
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BMRC
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Bioinformatics Institute
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A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease? (Pending publish)
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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
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Human Genetics and Genomics Advances
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9 Dec 2025
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BMRC
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Bioinformatics Institute
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The United Nations convention on rare diseases—A framework for research prioritization (Pending publish)
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Mohammed Junaid,
Jenny Downs,
Tudor Groza,
Timo Lassmann,
Sue Baker,
Kaila Stevens,
Jake Keeffe,
Dylan Gration,
Amanda Newell,
Jamie Duckers,
Gareth Baynam
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Frontiers in Public Health
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25 Nov 2025
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BMRC
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Bioinformatics Institute
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Information content as a health system screening tool for rare diseases (Pending publish)
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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
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npj Digital Medicine
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6 Oct 2025
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BMRC
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Bioinformatics Institute
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Mondo: integrating disease terminology across communities (Pending publish)
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Nicole A Vasilevsky,
Sabrina Toro,
Nicolas Matentzoglu,
Joseph E Flack,
Kathleen R Mullen,
Harshad Hegde,
Sarah Gehrke,
Patricia L Whetzel,
Yousif Shwetar,
Nomi L Harris,
Mee S Ngu,
Gioconda L Alyea,
Megan S Kane,
Paola Roncaglia,
Eric Sid,
Courtney L Thaxton,
Valerie Wood,
Roshini S Abraham,
Maria Isabel Achatz,
Pamela Ajuyah,
Joanna S Amberger,
Lawrence Babb,
Jasmine Baker,
James P Balhoff,
Jonathan S Berg,
Amol Bhalla,
Xavier Bofill-De Ros,
Ian R Braun,
Eleanor C Broeren,
Blake K Byer,
Alicia B Byrne,
Tiffany J Callahan,
Leigh C Carmody,
Lauren E Chan,
Amanda R Clause,
Julie S Cohen,
Marcello DeLuca,
Natalie T Deuitch,
May Flowers,
Jamie Fraser,
Toyofumi Fujiwara,
Vanessa Gitau,
Jennifer L Goldstein,
Dylan Gration,
Tudor Groza,
Benjamin M Gyori,
William Hankey,
Jason A Hilton,
Daniel S Himmelstein,
Stephanie S Hong,
Charles T Hoyt,
Robert Huether,
Eric Hurwitz,
Julius O B Jacobsen,
Atsuo Kikuchi,
Sebastian Köhler,
Daniel R Korn,
David Lagorce,
Bryan J Laraway,
Jane Y Li,
Adriana J Malheiro,
James McLaughlin,
Birgit H M Meldal,
Shruthi Mohan,
Sierra A T Moxon,
Monica C Munoz-Torres,
Tristan H Nelson,
Frank W Nicholas,
David Ochoa,
Daniel Olson,
Tudor I Oprea,
Tomiko T Oskotsky,
David Osumi-Sutherland,
Kelley Paris,
Helen E Parkinson,
Zoë M Pendlington,
Xiao P Peng,
Amy Pizzino,
Sharon E Plon,
Bradford C Powell,
Julie C Ratliff,
Heidi L Rehm,
Lyubov Remennik,
Erin R Riggs,
Sean Roberts,
Peter N Robinson,
Justyne E Ross,
Kevin Schaper,
Brian M Schilder,
Johanna L Schmidt,
Elliott W Sharp,
Morgan N Similuk,
Damian Smedley,
Tam P Sneddon,
Rachel Sparks,
Ray Stefancsik,
Gregory S Stupp,
Shilpa Sundar,
Terue Takatsuki,
Imke Tammen,
Kezang C Tshering,
Deepak R Unni,
Eloise Valasek,
Adeline Vanderver,
Alex H Wagner,
Ryan F Webb,
Danielle Welter,
Doron Yaya-Stupp,
Andreas Zankl,
Xingmin Aaron Zhang,
Julie A McMurry,
Christopher G Chute,
Ada Hamosh,
Christopher J Mungall,
Melissa A Haendel
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GENETICS
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16 Apr 2025
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BMRC
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Bioinformatics Institute
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First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case (Pending publish)
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Tudor Groza,
Warittha Rayabsri,
Dylan Gration,
Harshini Hariram,
Saumya Shekhar Jamuar,
Gareth Baynam
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The American Journal of Human Genetics
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