Works matching AU Mungall, Christopher

Results: 70

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation.

Published in:

PLoS Biology, 2009, v. 7, n. 11, p. 1, doi. 10.1371/journal.pbio.1000247

By:

Washington, Nicole L.;
Haendel, Melissa A.;
Mungall, Christopher J.;
Ashburner, Michael;
Westerfield, Monte;
Lewis, Suzanna E.

Publication type:

Article

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery.

Published in:

NPJ Digital Medicine, 2019, v. 2, p. N.PAG, doi. 10.1038/s41746-019-0110-4

By:

Zhang, Xingmin Aaron;
Yates, Amy;
Vasilevsky, Nicole;
Gourdine, J. P.;
Callahan, Tiffany J.;
Carmody, Leigh C.;
Danis, Daniel;
Joachimiak, Marcin P.;
Ravanmehr, Vida;
Pfaff, Emily R.;
Champion, James;
Robasky, Kimberly;
Xu, Hao;
Fecho, Karamarie;
Walton, Nephi A.;
Zhu, Richard L.;
Ramsdill, Justin;
Mungall, Christopher J.;
Köhler, Sebastian;
Haendel, Melissa A.

Publication type:

Article

The environment ontology: contextualising biological and biomedical entities.

Published in:

Journal of Biomedical Semantics, 2013, v. 4, n. 1, p. 2, doi. 10.1186/2041-1480-4-43

By:

Buttigieg, Pier Luigi;
Morrison, Norman;
Smith, Barry;
Mungall, Christopher J.;
Lewis, Suzanna E.

Publication type:

Article

ONTOLOGIES AS INTEGRATIVE TOOLS FOR PLANT SCIENCE.

Published in:

American Journal of Botany, 2012, v. 99, n. 8, p. 1263, doi. 10.3732/ajb.1200222

By:

Walls, Ramona L.;
Athreya, Balaji;
Cooper, Laurel;
Elser, Justin;
Gandolfo, Maria A.;
Jaiswal, Pankaj;
Mungall, Christopher J.;
Preece, Justin;
Rensing, Stefan;
Smith, Barry;
Stevenson, Dennis W.

Publication type:

Article

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning.

Published in:

Bioinformatics, 2024, v. 40, n. 3, p. 1, doi. 10.1093/bioinformatics/btae104

By:

Caufield, J Harry;
Hegde, Harshad;
Emonet, Vincent;
Harris, Nomi L;
Joachimiak, Marcin P;
Matentzoglu, Nicolas;
Kim, HyeongSik;
Moxon, Sierra;
Reese, Justin T;
Haendel, Melissa A;
Robinson, Peter N;
Mungall, Christopher J

Publication type:

Article

An expectation–maximization framework for comprehensive prediction of isoform-specific functions.

Published in:

Bioinformatics, 2023, v. 39, n. 4, p. 1, doi. 10.1093/bioinformatics/btad132

By:

Karlebach, Guy;
Carmody, Leigh;
Sundaramurthi, Jagadish Chandrabose;
Casiraghi, Elena;
Hansen, Peter;
Reese, Justin;
Mungall, Christopher J;
Valentini, Giorgio;
Robinson, Peter N

Publication type:

Article

Reactome and the Gene Ontology: digital convergence of data resources.

Published in:

Bioinformatics, 2021, v. 37, n. 19, p. 3343, doi. 10.1093/bioinformatics/btab325

By:

Good, Benjamin M;
Auken, Kimberly Van;
Hill, David P;
Mi, Huaiyu;
Carbon, Seth;
Balhoff, James P;
Albou, Laurent-Philippe;
Thomas, Paul D;
Mungall, Christopher J;
Blake, Judith A;
D'Eustachio, Peter

Publication type:

Article

The Minimum Information about a Molecular Interaction CAusal STatement (MI2CAST).

Published in:

Bioinformatics, 2020, v. 36, n. 24, p. 5712, doi. 10.1093/bioinformatics/btaa622

By:

Touré, Vasundra;
Vercruysse, Steven;
Acencio, Marcio Luis;
Lovering, Ruth C;
Orchard, Sandra;
Bradley, Glyn;
Casals-Casas, Cristina;
Chaouiya, Claudine;
del-Toro, Noemi;
Flobak, Åsmund;
Gaudet, Pascale;
Hermjakob, Henning;
Hoyt, Charles Tapley;
Licata, Luana;
Lægreid, Astrid;
Mungall, Christopher J;
Niknejad, Anne;
Panni, Simona;
Perfetto, Livia;
Porras, Pablo

Publication type:

Article

Unifying the identification of biomedical entities with the Bioregistry.

Published in:

Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01807-3

By:

Hoyt, Charles Tapley;
Balk, Meghan;
Callahan, Tiffany J.;
Domingo-Fernández, Daniel;
Haendel, Melissa A.;
Hegde, Harshad B.;
Himmelstein, Daniel S.;
Karis, Klas;
Kunze, John;
Lubiana, Tiago;
Matentzoglu, Nicolas;
McMurry, Julie;
Moxon, Sierra;
Mungall, Christopher J.;
Rutz, Adriano;
Unni, Deepak R.;
Willighagen, Egon;
Winston, Donald;
Gyori, Benjamin M.

Publication type:

Article

The Plant Ontology as a Tool for Comparative Plant Anatomy and Genomic Analyses.

Published in:

Plant & Cell Physiology, 2013, v. 54, n. 2, p. e1, doi. 10.1093/pcp/pcs163

By:

Cooper, Laurel;
Walls, Ramona L.;
Elser, Justin;
Gandolfo, Maria A.;
Stevenson, Dennis W.;
Smith, Barry;
Preece, Justin;
Athreya, Balaji;
Mungall, Christopher J.;
Rensing, Stefan;
Hiss, Manuel;
Lang, Daniel;
Reski, Ralf;
Berardini, Tanya Z.;
Li, Donghui;
Huala, Eva;
Schaeffer, Mary;
Menda, Naama;
Arnaud, Elizabeth;
Shrestha, Rosemary

Publication type:

Article

A Chado case study: an ontology-based modular schema for representing genome-associated biological information.

Published in:

Bioinformatics, 2007, v. 23, n. 13, p. i337

By:

Christopher J. Mungall;
David B. Emmert;
The FlyBase Consortium

Publication type:

Article

The Plant Ontology Facilitates Comparisons of Plant Development Stages Across Species.

Published in:

Frontiers in Plant Science, 2019, p. N.PAG, doi. 10.3389/fpls.2019.00631

By:

Walls, Ramona L.;
Cooper, Laurel;
Elser, Justin;
Gandolfo, Maria Alejandra;
Mungall, Christopher J.;
Smith, Barry;
Stevenson, Dennis W.;
Jaiswal, Pankaj

Publication type:

Article

Muscle Logic: New Knowledge Resource for Anatomy Enables Comprehensive Searches of the Literature on the Feeding Muscles of Mammals.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149102

By:

Druzinsky, Robert E.;
Balhoff, James P.;
Crompton, Alfred W.;
Done, James;
German, Rebecca Z.;
Haendel, Melissa A.;
Herrel, Anthony;
Herring, Susan W.;
Lapp, Hilmar;
Mabee, Paula M.;
Muller, Hans-Michael;
Mungall, Christopher J.;
Sternberg, Paul W.;
Van Auken, Kimberly;
Vinyard, Christopher J.;
Williams, Susan H.;
Wall, Christine E.

Publication type:

Article

ROBOT: A Tool for Automating Ontology Workflows.

Published in:

BMC Bioinformatics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12859-019-3002-3

By:

Jackson, Rebecca C.;
Balhoff, James P.;
Douglass, Eric;
Harris, Nomi L.;
Mungall, Christopher J.;
Overton, James A.

Publication type:

Article

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

FAIR Header Reference genome: a TRUSTworthy standard.

Published in:

Briefings in Bioinformatics, 2024, v. 25, n. 3, p. 1, doi. 10.1093/bib/bbae122

By:

Wright, Adam;
Wilkinson, Mark D;
Mungall, Christopher;
Cain, Scott;
Richards, Stephen;
Sternberg, Paul;
Provin, Ellen;
Jacobs, Jonathan L;
Geib, Scott;
Raciti, Daniela;
Yook, Karen;
Stein, Lincoln;
Molik, David C

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

BioMake: a GNU make-compatible utility for declarative workflow management.

Published in:

Bioinformatics, 2017, v. 33, n. 21, p. 3502, doi. 10.1093/bioinformatics/btx306

By:

Holmes, Ian H.;
Mungall, Christopher J.

Publication type:

Article

A strategy for building neuroanatomy ontologies.

Published in:

2012

By:

Osumi-Sutherland, David;
Reeve, Simon;
Mungall, Christopher J.;
Neuhaus, Fabian;
Ruttenberg, Alan;
Jefferis, Gregory S. X. E.;
Armstrong, J. Douglas

Publication type:

Correction Notice

A strategy for building neuroanatomy ontologies.

Published in:

Bioinformatics, 2012, v. 28, n. 9, p. 1262, doi. 10.1093/bioinformatics/bts113

By:

Osumi-Sutherland, David;
Reeve, Simon;
Mungall, Christopher J.;
Neuhaus, Fabian;
Ruttenberg, Alan;
Jefferis, Gregory S. X. E.;
Armstrong, J. Douglas

Publication type:

Article

AmiGO: online access to ontology and annotation data.

Published in:

Bioinformatics, 2009, v. 25, n. 2, p. 288

By:

Seth Carbon;
Amelia Ireland;
Christopher J. Mungall;
ShengQiang Shu;
Brad Marshall;
Suzanna Lewis;
the AmiGO Hub;
the Web Presence Working Group

Publication type:

Article

An open source knowledge graph ecosystem for the life sciences.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03171-w

By:

Callahan, Tiffany J.;
Tripodi, Ignacio J.;
Stefanski, Adrianne L.;
Cappelletti, Luca;
Taneja, Sanya B.;
Wyrwa, Jordan M.;
Casiraghi, Elena;
Matentzoglu, Nicolas A.;
Reese, Justin;
Silverstein, Jonathan C.;
Hoyt, Charles Tapley;
Boyce, Richard D.;
Malec, Scott A.;
Unni, Deepak R.;
Joachimiak, Marcin P.;
Robinson, Peter N.;
Mungall, Christopher J.;
Cavalleri, Emanuele;
Fontana, Tommaso;
Valentini, Giorgio

Publication type:

Article

An integrated metagenomic, metabolomic and transcriptomic survey of Populus across genotypes and environments.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03069-7

By:

Schadt, Christopher;
Martin, Stanton;
Carrell, Alyssa;
Fortner, Allison;
Hopp, Dan;
Jacobson, Dan;
Klingeman, Dawn;
Kristy, Brandon;
Phillips, Jana;
Piatkowski, Bryan;
Miller, Mark A.;
Smith, Montana;
Patil, Sujay;
Flynn, Mark;
Canon, Shane;
Clum, Alicia;
Mungall, Christopher J.;
Pennacchio, Christa;
Bowen, Benjamin;
Louie, Katherine

Publication type:

Article

A knowledge based approach to matching human neurodegenerative disease and animal models.

Published in:

Frontiers in Neuroinformatics, 2013, v. 7, p. 1, doi. 10.3389/fninf.2013.00007

By:

Maynard, Sarah M.;
Mungall, Christopher J.;
Lewis, Suzanna E.;
Imam, Fahim T.;
Martone, Maryann E.

Publication type:

Article

An evaluation of GPT models for phenotype concept recognition.

Published in:

BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02439-w

By:

Groza, Tudor;
Caufield, Harry;
Gration, Dylan;
Baynam, Gareth;
Haendel, Melissa A.;
Robinson, Peter N.;
Mungall, Christopher J.;
Reese, Justin T.

Publication type:

Article

Dovetailing biology and chemistry: integrating the Gene Ontology with the ChEBI chemical ontology.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-513

By:

Hill, David P.;
Adams, Nico;
Bada, Mike;
Batchelor, Colin;
Berardini, Tanya Z.;
Dietze, Heiko.;
Drabkin, Harold J.;
Ennis, Marcus;
Foulger, Rebecca E.;
Harris, Midori A.;
Hastings, Janna.;
Kale, Namrata S.;
de Matos, Paula;
Mungall, Christopher J.;
Owen, Gareth;
Roncaglia, Paola;
Steinbeck, Christoph;
Turner, Steve;
Lomax, Jane

Publication type:

Article

Dovetailing biology and chemistry: integrating the Gene Ontology with the ChEBI chemical ontology.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-513

By:

Hill, David P.;
Adams, Nico;
Bada, Mike;
Batchelor, Colin;
Berardini, Tanya Z.;
Dietze, Heiko;
Drabkin, Harold J.;
Ennis, Marcus;
Foulger, Rebecca E.;
Harris, Midori A.;
Hastings, Janna;
Kale, Namrata S.;
de Matos, Paula;
Mungall, Christopher J.;
Owen, Gareth;
Roncaglia, Paola;
Steinbeck, Christoph;
Turner, Steve;
Lomax, Jane

Publication type:

Article

Transforming the study of organisms: Phenomic data models and knowledge bases.

Published in:

PLoS Computational Biology, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pcbi.1008376

By:

Thessen, Anne E.;
Walls, Ramona L.;
Vogt, Lars;
Singer, Jessica;
Warren, Robert;
Buttigieg, Pier Luigi;
Balhoff, James P.;
Mungall, Christopher J.;
McGuinness, Deborah L.;
Stucky, Brian J.;
Yoder, Matthew J.;
Haendel, Melissa A.

Publication type:

Article

Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.

Published in:

Bioinformatics Advances, 2024, v. 4, n. 1, p. 1, doi. 10.1093/bioadv/vbae036

By:

Cappelletti, Luca;
Rekerle, Lauren;
Fontana, Tommaso;
Hansen, Peter;
Casiraghi, Elena;
Ravanmehr, Vida;
Mungall, Christopher J;
Yang, Jeremy J;
Spranger, Leonard;
Karlebach, Guy;
Caufield, J Harry;
Carmody, Leigh;
Coleman, Ben;
Oprea, Tudor I;
Reese, Justin;
Valentini, Giorgio;
Robinson, Peter N

Publication type:

Article

The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.

Published in:

Journal of Biomedical Semantics, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13326-023-00283-x

By:

Chan, Lauren E.;
Thessen, Anne E.;
Duncan, William D.;
Matentzoglu, Nicolas;
Schmitt, Charles;
Grondin, Cynthia J.;
Vasilevsky, Nicole;
McMurry, Julie A.;
Robinson, Peter N.;
Mungall, Christopher J.;
Haendel, Melissa A.

Publication type:

Article

Dead simple OWL design patterns.

Published in:

Journal of Biomedical Semantics, 2017, v. 8, p. 1, doi. 10.1186/s13326-017-0126-0

By:

Osumi-Sutherland, David;
Courtot, Melanie;
Balhoff, James P.;
Mungall, Christopher

Publication type:

Article

The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0097-6

By:

Buttigieg, Pier Luigi;
Pafilis, Evangelos;
Lewis, Suzanna E.;
Schildhauer, Mark P.;
Walls, Ramona L.;
Mungall, Christopher J.

Publication type:

Article

The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0088-7

By:

Diehl, Alexander D.;
Meehan, Terrence F.;
Bradford, Yvonne M.;
Brush, Matthew H.;
Dahdul, Wasila M.;
Dougall, David S.;
Yongqun He;
Osumi-Sutherland, David;
Ruttenberg, Alan;
Sarntivijai, Sirarat;
Van Slyke, Ceri E.;
Vasilevsky, Nicole A.;
Haendel, Melissa A.;
Blake, Judith A.;
Mungall, Christopher J.

Publication type:

Article

FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation.

Published in:

Journal of Biomedical Semantics, 2016, v. 7, p. 1, doi. 10.1186/s13326-016-0067-z

By:

Bolleman, Jerven T.;
Mungall, Christopher J.;
Strozzi, Francesco;
Baran, Joachim;
Dumontier, Michel;
Bonnal, Raoul J. P.;
Buels, Robert;
Hoehndorf, Robert;
Fujisawa, Takatomo;
Katayama, Toshiaki;
Cock, Peter J. A.

Publication type:

Article

TermGenie - a web-application for pattern-based ontology class generation.

Published in:

Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-48

By:

Dietze, Heiko;
Berardini, Tanya Z.;
Foulger, Rebecca E.;
Hill, David P.;
Lomax, Jane;
Osumi-Sutherland, David;
Roncaglia, Paola;
Mungall, Christopher J.

Publication type:

Article

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.

Published in:

Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-21

By:

Haendel, Melissa A.;
Balhoff, James P.;
Bastian, Frederic B.;
Blackburn, David C.;
Blake, Judith A.;
Bradford, Yvonne;
Comte, Aurelie;
Dahdul, Wasila M.;
Dececchi, Thomas A.;
Druzinsky, Robert E.;
Hayamizu, Terry F.;
Ibrahim, Nizar;
Lewis, Suzanna E.;
Mabee, Paula M.;
Niknejad, Anne;
Robinson-Rechavi, Marc;
Sereno, Paul C.;
Mungall, Christopher J.

Publication type:

Article

What is an anatomy ontology?

Published in:

Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2013, v. 296, n. 12, p. 1797, doi. 10.1002/ar.22805

By:

Druzinsky, Robert;
Mungall, Christopher;
Haendel, Melissa;
Lapp, Hilmar;
Mabee, Paula

Publication type:

Article

A method for increasing expressivity of Gene Ontology annotations using a compositional approach.

Published in:

BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-155

By:

Huntley, Rachael P.;
Harris, Midori A.;
Alam-Faruque, Yasmin;
Blake, Judith A.;
Carbon, Seth;
Dietze, Heiko;
Dimmer, Emily C.;
Foulger, Rebecca E.;
Hil, David P.;
Khodiyar, Varsha K.;
Lock, Antonia;
Lomax, Jane;
Lovering, Ruth C.;
Mutowo-Meullenet, Prudence;
Sawford, Tony;
Auken, Kimberly Van;
Wood, Valerie;
Mungall, Christopher J.

Publication type:

Article

Ontology based molecular signatures for immune cell types via gene expression analysis.

Published in:

BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-263

By:

Meehan, Terrence F.;
Vasilevsky, Nicole A.;
Mungall, Christopher J.;
Dougall, David S.;
Haendel, Melissa A.;
Blake, Judith A.;
Diehl, Alexander D.

Publication type:

Article

Logical Development of the Cell Ontology.

Published in:

BMC Bioinformatics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2105-12-6

By:

Meehan, Terrence F.;
Masci, Anna Maria;
Abdulla, Amina;
Cowell, Lindsay G.;
Blake, Judith A.;
Mungall, Christopher J.;
Diehl, Alexander D.

Publication type:

Article

Formalization of taxon-based constraints to detect inconsistencies in annotation and ontology development.

Published in:

BMC Bioinformatics, 2010, v. 11, p. 530, doi. 10.1186/1471-2105-11-530

By:

Deegan (née Clark), Jennifer I.;
Dimmer, Emily C.;
Mungall, Christopher J.

Publication type:

Article

On the Use of Gene Ontology Annotations to Assess Functional Similarity among Orthologs and Paralogs: A Short Report.

Published in:

PLoS Computational Biology, 2012, v. 8, n. 2, p. 1, doi. 10.1371/journal.pcbi.1002386

By:

Thomas, Paul D.;
Wood, Valerie;
Mungall, Christopher J.;
Lewis, Suzanna E.;
Blake, Judith A.

Publication type:

Article

Efficient reinterpretation of rare disease cases using Exomiser.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00456-2

By:

Vestito, Letizia;
Jacobsen, Julius O. B.;
Walker, Susan;
Cipriani, Valentina;
Harris, Nomi L.;
Haendel, Melissa A.;
Mungall, Christopher J.;
Robinson, Peter;
Smedley, Damian

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

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.

Published in:

Nucleic Acids Research, 2015, v. 43, n. D1, p. D1071, doi. 10.1093/nar/gku1011

By:

Kibbe, Warren A.;
Arze, Cesar;
Felix, Victor;
Mitraka, Elvira;
Bolton, Evan;
Fu, Gang;
Mungall, Christopher J.;
Binder, Janos X.;
Malone, James;
Vasant, Drashtti;
Parkinson, Helen;
Schriml, Lynn M.

Publication type:

Article

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Published in:

Nucleic Acids Research, 2014, v. 42, n. D1, p. D966

By:

Köhler, Sebastian;
Doelken, Sandra C.;
Mungall, Christopher J.;
Bauer, Sebastian;
Firth, Helen V.;
Bailleul-Forestier, Isabelle;
Black, Graeme C. M.;
Brown, Danielle L.;
Brudno, Michael;
Campbell, Jennifer;
FitzPatrick, David R.;
Eppig, Janan T.;
Jackson, Andrew P.;
Freson, Kathleen;
Girdea, Marta;
Helbig, Ingo;
Hurst, Jane A.;
Jähn, Johanna;
Jackson, Laird G.;
Kelly, Anne M.

Publication type:

Article

High-performance web services for querying gene and variant annotation.

Published in:

Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0953-9

By:

Jiwen Xin;
Mark, Adam;
Afrasiabi, Cyrus;
Tsueng, Ginger;
Juchler, Moritz;
Gopal, Nikhil;
Stupp, Gregory S.;
Putman, Timothy E.;
Ainscough, Benjamin J.;
Griffith, Obi L.;
Torkamani, Ali;
Whetzel, Patricia L.;
Mungall, Christopher J.;
Mooney, Sean D.;
Su, Andrew I.;
Chunlei Wu

Publication type:

Article

Gateways to the FANTOM5 promoter level mammalian expression atlas.

Published in:

Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-014-0560-6

By:

Lizio, Marina;
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Hisashi Shimoji;
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Takeya Kasukawa;
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Shiro Fukuda;
Fumi Hori;
Sachi Ishikawa-Kato;
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Arner, Erik;
Baillie, J. Kenneth;
Bertin, Nicolas;
Hidemasa Bono;
de Hoon, Michiel;
Diehl, Alexander D.;
Dimont, Emmanuel;
Freeman, Tom C.;
Kaori Fujieda

Publication type:

Article

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

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Genome Biology, 2014, v. 15, n. 7, p. 423, doi. 10.1186/s13059-014-0423-1

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Ibn-Salem, Jonas;
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Ni Huang;
Hurles, Matthew E.;
Haendel, Melissa;
Washington, Nicole L.;
Smedley, Damian;
Mungall, Christopher J.;
Lewis, Suzanna E.;
Ott, Claus-Eric;
Bauer, Sebastian;
Schofield, Paul N.;
Mundlos, Stefan;
Spielmann, Malte;
Robinson, Peter N.

Publication type:

Article

Uberon, an integrative multi-species anatomy ontology.

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Genome Biology, 2012, v. 13, n. 1, p. 1, doi. 10.1186/gb-2012-13-1-r5

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Mungall, Christopher J.;
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Publication type:

Article