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Daniel Danis

Showing results (11-20 of 44) with videos related to

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BMC Genomics|January 16, 2019
GOPHER: Generator Of Probes for capture Hi-C Experiments at high ResolutionPeter Hansen, Salaheddine Ali, Hannah Blau, et al.
Bioinformatics (Oxford, England)|November 24, 2023
Term-BLAST-like alignment tool for concept recognition in noisy clinical textsTudor Groza, Honghan Wu, Marcel E Dinger, et al.
Gigascience|May 24, 2020
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variantsAlessandro Petrini, Marco Mesiti, Max Schubach, et al.
Orphanet Journal of Rare Diseases|February 6, 2020
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genesLeigh C Carmody, Hannah Blau, Daniel Danis, et al.
European Journal of Medical Genetics|August 16, 2016
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosaMartina Skopkova, Miriam Ciljakova, Zuzana Havlicekova, et al.
Human Mutation|April 7, 2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Bioinformatics (Oxford, England)|September 29, 2025
Oncopacket: integration of cancer research data using GA4GH phenopacketsMichael Sierk, Daniel Danis, Sujay Patil, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
Pageof 5

Showing results (11-20 of 44) with videos related to

Sort By:
Pageof 5
BMC Genomics|January 16, 2019
GOPHER: Generator Of Probes for capture Hi-C Experiments at high ResolutionPeter Hansen, Salaheddine Ali, Hannah Blau, et al.
Bioinformatics (Oxford, England)|November 24, 2023
Term-BLAST-like alignment tool for concept recognition in noisy clinical textsTudor Groza, Honghan Wu, Marcel E Dinger, et al.
Gigascience|May 24, 2020
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variantsAlessandro Petrini, Marco Mesiti, Max Schubach, et al.
Orphanet Journal of Rare Diseases|February 6, 2020
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genesLeigh C Carmody, Hannah Blau, Daniel Danis, et al.
European Journal of Medical Genetics|August 16, 2016
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosaMartina Skopkova, Miriam Ciljakova, Zuzana Havlicekova, et al.
Human Mutation|April 7, 2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseJulius O B Jacobsen, Catherine Kelly, Valentina Cipriani, et al.
Bioinformatics (Oxford, England)|September 29, 2025
Oncopacket: integration of cancer research data using GA4GH phenopacketsMichael Sierk, Daniel Danis, Sujay Patil, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
Pageof 5