Found: 15

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  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

    Published in:
    Nucleic Acids Research, 2019, v. 47, n. D1, p. D1018, doi. 10.1093/nar/gky1105
    By:
    • Köhler, Sebastian;
    • Carmody, Leigh;
    • Vasilevsky, Nicole;
    • Jacobsen, Julius O B;
    • Danis, Daniel;
    • Gourdine, Jean-Philippe;
    • Gargano, Michael;
    • Harris, Nomi L;
    • Matentzoglu, Nicolas;
    • McMurry, Julie A;
    • Osumi-Sutherland, David;
    • Cipriani, Valentina;
    • Balhoff, James P;
    • Conlin, Tom;
    • Blau, Hannah;
    • Baynam, Gareth;
    • Palmer, Richard;
    • Gratian, Dylan;
    • Dawkins, Hugh;
    • Segal, Michael
    Publication type:
    Article

  • The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. D1, p. D712, doi. 10.1093/nar/gkw1128
    By:
    • Mungall, Christopher J.;
    • McMurry, Julie A.;
    • Köhler3, Sebastian;
    • Balhoff, James P.;
    • Borromeo, Charles;
    • Brush, Matthew;
    • Carbon, Seth;
    • Conlin, Tom;
    • Dunn, Nathan;
    • Engelstad, Mark;
    • Foster, Erin;
    • Gourdine, J. P.;
    • Jacobsen, Julius O. B.;
    • Keith, Dan;
    • Laraway, Bryan;
    • Lewis, Suzanna E.;
    • NguyenXuan, Jeremy;
    • Shefchek, Kent;
    • Vasilevsky, Nicole;
    • Zhou Yuan
    Publication type:
    Article

  • The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. D1, p. D485, doi. 10.1093/nar/gkt1243
    By:
    • Furnham, Nicholas;
    • Holliday, Gemma L.;
    • de Beer, Tjaart A. P.;
    • Jacobsen, Julius O. B.;
    • Pearson, William R.;
    • Thornton, Janet M.
    Publication type:
    Article

  • SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01046-6
    By:
    • Danis, Daniel;
    • Jacobsen, Julius O. B.;
    • Balachandran, Parithi;
    • Zhu, Qihui;
    • Yilmaz, Feyza;
    • Reese, Justin;
    • Haimel, Matthias;
    • Lyon, Gholson J.;
    • Helbig, Ingo;
    • Mungall, Christopher J.;
    • Beck, Christine R.;
    • Lee, Charles;
    • Smedley, Damian;
    • Robinson, Peter N.
    Publication type:
    Article

  • Phenopacket-tools: Building and validating GA4GH Phenopackets.

    Published in:
    PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285433
    By:
    • Danis, Daniel;
    • Jacobsen, Julius O. B.;
    • Wagner, Alex H.;
    • Groza, Tudor;
    • Beckwith, Martha A.;
    • Rekerle, Lauren;
    • Carmody, Leigh C.;
    • Reese, Justin;
    • Hegde, Harshad;
    • Ladewig, Markus S.;
    • Seitz, Berthold;
    • Munoz-Torres, Monica;
    • Harris, Nomi L.;
    • Rambla, Jordi;
    • Baudis, Michael;
    • Mungall, Christopher J.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article

  • The GA4GH Phenopacket schema defines a computable representation of clinical data.

    Published in:
    2022
    By:
    • Jacobsen, Julius O. B.;
    • Baudis, Michael;
    • Baynam, Gareth S.;
    • Beckmann, Jacques S.;
    • Beltran, Sergi;
    • Buske, Orion J.;
    • Callahan, Tiffany J.;
    • Chute, Christopher G.;
    • Courtot, Mélanie;
    • Danis, Daniel;
    • Elemento, Olivier;
    • Essenwanger, Andrea;
    • Freimuth, Robert R.;
    • Gargano, Michael A.;
    • Groza, Tudor;
    • Hamosh, Ada;
    • Harris, Nomi L.;
    • Kaliyaperumal, Rajaram;
    • Lloyd, Kevin C. Kent;
    • Khalifa, Aly
    Publication type:
    Letter

  • GA4GH Phenopackets: A Practical Introduction.

    Published in:
    Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200016
    By:
    • Ladewig, Markus S.;
    • Jacobsen, Julius O. B.;
    • Wagner, Alex H.;
    • Danis, Daniel;
    • El Kassaby, Baha;
    • Gargano, Michael;
    • Groza, Tudor;
    • Baudis, Michael;
    • Steinhaus, Robin;
    • Seelow, Dominik;
    • Bechrakis, Nikolaos E.;
    • Mungall, Christopher J.;
    • Schofield, Paul N.;
    • Elemento, Olivier;
    • Smith, Lindsay;
    • McMurry, Julie A.;
    • Munoz‐Torres, Monica;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article

  • Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.

    Published in:
    Briefings in Bioinformatics, 2022, v. 23, n. 5, p. 1, doi. 10.1093/bib/bbac188
    By:
    • Jacobsen, Julius O B;
    • Kelly, Catherine;
    • Cipriani, Valentina;
    • Robinson, Peter N;
    • Smedley, Damian
    Publication type:
    Article

  • Navigating the Phenotype Frontier: The Monarch Initiative.

    Published in:
    Genetics, 2016, v. 203, n. 4, p. 1491, doi. 10.1534/genetics.116.188870
    By:
    • McMurry, Julie A.;
    • Köhler, Sebastian;
    • Washington, Nicole L.;
    • Balhoff, James P.;
    • Borromeo, Charles;
    • Brush, Matthew;
    • Carbon, Seth;
    • Conlin, Tom;
    • Dunn, Nathan;
    • Engelstad, Mark;
    • Foster, Erin;
    • Gourdine, Jean-Philippe;
    • Jacobsen, Julius O. B.;
    • Keith, Daniel;
    • Laraway, Bryan;
    • Nguyen Xuan, Jeremy;
    • Shefchek, Kent;
    • Vasilevsky, Nicole A.;
    • Zhou Yuan;
    • Lewis, Suzanna E.
    Publication type:
    Article

  • Improving prenatal diagnosis through standards and aggregation.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 4, p. 454, doi. 10.1002/pd.6522
    By:
    • Duyzend, Michael H.;
    • Cacheiro, Pilar;
    • Jacobsen, Julius O. B.;
    • Giordano, Jessica;
    • Brand, Harrison;
    • Wapner, Ronald J.;
    • Talkowski, Michael E.;
    • Robinson, Peter N.;
    • Smedley, Damian
    Publication type:
    Article

  • Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.

    Published in:
    Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380
    By:
    • Jacobsen, Julius O. B.;
    • Kelly, Catherine;
    • Cipriani, Valentina;
    • Research Consortium, Genomics England;
    • Mungall, Christopher J.;
    • Reese, Justin;
    • Danis, Daniel;
    • Robinson, Peter N.;
    • Smedley, Damian
    Publication type:
    Article

  • matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.

    Published in:
    Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655
    By:
    • Arachchi, Harindra;
    • Wojcik, Monica H;
    • Weisburd, Benjamin;
    • Jacobsen, Julius O. B.;
    • Valkanas, Elise;
    • Baxter, Samantha;
    • Byrne, Alicia B.;
    • O'Donnell‐Luria, Anne H.;
    • Haendel, Melissa;
    • Smedley, Damian;
    • MacArthur, Daniel G.;
    • Philippakis, Anthony A.;
    • Rehm, Heidi L.
    Publication type:
    Article

  • An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

    Published in:
    Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
    By:
    • Cipriani, Valentina;
    • Pontikos, Nikolas;
    • Arno, Gavin;
    • Sergouniotis, Panagiotis I.;
    • Lenassi, Eva;
    • Penpitcha Thawong;
    • Danis, Daniel;
    • Michaelides, Michel;
    • Webster, Andrew R.;
    • Moore, Anthony T.;
    • Robinson, Peter N.;
    • Jacobsen, Julius O. B.;
    • Smedley, Damian
    Publication type:
    Article

  • Next-generation diagnostics and disease-gene discovery with the Exomiser.

    Published in:
    Nature Protocols, 2015, v. 10, n. 12, p. 1, doi. 10.1038/nprot.2015.124
    By:
    • Smedley, Damian;
    • Jacobsen, Julius O. B.;
    • Jager, Marten;
    • Köhler, Sebastian;
    • Holtgrewe, Manuel;
    • Schubach, Max;
    • Siragusa, Enrico;
    • Zemojtel, Tomasz;
    • Buske, Orion J.;
    • Washington, Nicole L.;
    • Bone, William P.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article

  • Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

    Published in:
    Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
    By:
    • Pontikos, Nikolas;
    • Jing Yu;
    • Moghul, Ismail;
    • Withington, Lucy;
    • Blanco-Kelly, Fiona;
    • Vulliamy, Tom;
    • Wong, Tsz Lun Ernest;
    • Murphy, Cian;
    • Cipriani, Valentina;
    • Fiorentino, Alessia;
    • Arno, Gavin;
    • Greene, Daniel;
    • Jacobsen, Julius O. B.;
    • Clark, Tristan;
    • Gregory, David S.;
    • Nemeth, Andrea M.;
    • Halford, Stephanie;
    • Inglehearn, Chris F.;
    • Downes, Susan;
    • Black, Graeme C.
    Publication type:
    Article