Phenotype ontologies and cross-species analysis for translational research. by Peter N Robinson, Caleb Webber

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Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene by Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu

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From transcriptomics to digital twins of organ function by Jens Hansen, Abhinav R. Jain, Philip Nenov, Philip Nenov, Peter N. Robinson, Ravi Iyengar

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Alternative splicing is coupled to gene expression in a subset of variably expressed genes by Guy Karlebach, Robin Steinhaus, Daniel Danis, Maeva Devoucoux, Olga Anczuków, Gloria Sheynkman, Dominik Seelow, Peter N. Robinson

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An evaluation of GPT models for phenotype concept recognition by Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese

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An ontology-based knowledge graph for representing interactions involving RNA molecules by Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J. Callahan, Justin Reese, Peter N. Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti

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The promises of large language models for protein design and modeling by Giorgio Valentini, Giorgio Valentini, Dario Malchiodi, Jessica Gliozzo, Jessica Gliozzo, Marco Mesiti, Mauricio Soto-Gomez, Alberto Cabri, Justin Reese, Elena Casiraghi, Elena Casiraghi, Elena Casiraghi, Peter N. Robinson

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The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond by Lauren E. Chan, Anne E. Thessen, William D. Duncan, Nicolas Matentzoglu, Charles Schmitt, Cynthia J. Grondin, Nicole Vasilevsky, Julie A. McMurry, Peter N. Robinson, Christopher J. Mungall, Melissa A. Haendel

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User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis by Conner Jenkins, Troy Jenkins, Thomas N Person, Peter N Robinson, Alanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, Joeseph Peterson, Jonathon C Reynolds, Makenzie A Woltz, Marc S Williams, Michael M Segal

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Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebraf... by Sandra C. Doelken, Sebastian Köhler, Christopher J. Mungall, Georgios V. Gkoutos, Barbara J. Ruef, Cynthia Smith, Damian Smedley, Sebastian Bauer, Eva Klopocki, Paul N. Schofield, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing by Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson

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Predictive models of long COVIDResearch in context by Blessy Antony, Hannah Blau, Elena Casiraghi, Johanna J. Loomba, Tiffany J. Callahan, Bryan J. Laraway, Kenneth J. Wilkins, Corneliu C. Antonescu, Giorgio Valentini, Andrew E. Williams, Peter N. Robinson, Justin T. Reese, T.M. Murali, Christopher Chute

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An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets by Adam S. L. Graefe, Miriam R. Hübner, Filip Rehburg, Steffen Sander, Sophie A. I. Klopfenstein, Samer Alkarkoukly, Ana Grönke, Annic Weyersberg, Daniel Danis, Jana Zschüntzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kühnen, Peter N. Robinson, Oya Beyan, Sylvia Thun

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Association of post-COVID phenotypic manifestations with new-onset psychiatric disease by Ben Coleman, Elena Casiraghi, Tiffany J. Callahan, Hannah Blau, Lauren E. Chan, Bryan Laraway, Kevin B. Clark, Yochai Re’em, Ken R. Gersing, Kenneth J. Wilkins, Nomi L. Harris, Giorgio Valentini, Melissa A. Haendel, Justin T. Reese, Peter N. Robinson

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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases by Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases by Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

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Phenopacket-tools: Building and validating GA4GH Phenopackets. by Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter N Robinson

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GA4GH Phenopackets: A Practical Introduction by Markus S. Ladewig, Julius O. B. Jacobsen, Alex H. Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E. Bechrakis, Christopher J. Mungall, Paul N. Schofield, Olivier Elemento, Lindsay Smith, Julie A. McMurry, Monica Munoz‐Torres, Melissa A. Haendel, Peter N. Robinson

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NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study by Justin T. Reese, Ben Coleman, Lauren Chan, Hannah Blau, Tiffany J. Callahan, Luca Cappelletti, Tommaso Fontana, Katie R. Bradwell, Nomi L. Harris, Elena Casiraghi, Giorgio Valentini, Guy Karlebach, Rachel Deer, Julie A. McMurry, Melissa A. Haendel, Christopher G. Chute, Emily Pfaff, Richard Moffitt, Heidi Spratt, Jasvinder A. Singh, Christopher J. Mungall, Andrew E. Williams, Peter N. Robinson

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The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification by Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L. Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah E. Hunt, David Kreda, Jennifer M. Lee, Stephanie Li, Javier Lopez, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew D. Yates, Robert R. Freimuth, Reece K. Hart

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