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Author/Creator Danis, Daniel

1. ParSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants. Issue 5 (23rd May 2020)

Authors:
Petrini, Alessandro; Mesiti, Marco; Schubach, Max; Frasca, Marco; Danis, Daniel; Re, Matteo; Grossi, Giuliano; Cappelletti, Luca; Castrignanò, Tiziana; Robinson, Peter N; Valentini, Giorgio
Journal:
GigaScience
Issue:
Volume 9:Issue 5(2020)
Page Start:
Record Type:
Journal Article
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3. Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease. Issue 8 (27th April 2022)

Authors:
Jacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina; Research Consortium, Genomics England; Mungall, Christopher J.; Reese, Justin; Danis, Daniel; Robinson, Peter N.; Smedley, Damian
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1071
Record Type:
Journal Article
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4. The Human Phenotype Ontology in 2021. Issue Volume 49:Issue D1(2021) (2nd December 2020)

Authors:
Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C; Lewis-Smith, David; Vasilevsky, Nicole A; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M; Callahan, Tiffany J; Chute, Christopher G; Est, Johanna L; Galer, Peter D; Ganesan, Shiva; Griese, Matthias; Haimel...
Journal:
Nucleic acids research
Issue:
Volume 49:Issue D1(2021)
Page Start:
D1207
Record Type:
Journal Article
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5. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. (24th July 2019)

Authors:
Köhler, Sebastian; Øien, N. Christine; Buske, Orion J.; Groza, Tudor; Jacobsen, Julius O. B.; McNamara, Craig; Vasilevsky, Nicole; Carmody, Leigh C.; Gourdine, J. P.; Gargano, Michael; McMurry, Julie A.; Danis, Daniel; Mungall, Christopher J.; Smedley, Damian; Haendel, Melissa; Robinson, Peter N.
Editors:
Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
Journal:
Current protocols in human genetics
Issue:
Volume 103(2019)
Page Start:
n/a
Record Type:
Journal Article
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6. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

Authors:
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, Ga...
Journal:
Nucleic acids research
Issue:
Volume 47:Issue D1(2019)
Page Start:
D1018
Record Type:
Journal Article
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9. GA4GH Phenopackets: A Practical Introduction. Issue 1 (25th August 2022)

Authors:
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 ...
Journal:
Advanced genetics
Issue:
Volume 4:Issue 1(2023)
Page Start:
n/a
Record Type:
Journal Article
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