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Michael Gargano
Michael Gargano
Verified email at jax.org
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Year
The human phenotype ontology in 2021
S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ...
Nucleic acids research 49 (D1), D1207-D1217, 2021
7842021
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
6672019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ...
Nucleic acids research 48 (D1), D704-D715, 2020
1992020
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
JT Reese, H Blau, E Casiraghi, T Bergquist, JJ Loomba, TJ Callahan, ...
EBioMedicine 87, 2023
772023
shinyGEO: a web-based application for analyzing gene expression omnibus datasets
J Dumas, MA Gargano, GM Dancik
Bioinformatics 32 (23), 3679-3681, 2016
722016
Interpretable clinical genomics with a likelihood ratio paradigm
PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ...
The American Journal of Human Genetics 107 (3), 403-417, 2020
662020
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
D Danis, JOB Jacobsen, LC Carmody, MA Gargano, JA McMurry, ...
The American Journal of Human Genetics 108 (9), 1564-1577, 2021
472021
The GA4GH Phenopacket schema defines a computable representation of clinical data
JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ...
Nature biotechnology 40 (6), 817-820, 2022
462022
Encoding clinical data with the human phenotype ontology for computational differential diagnostics
S Köhler, NC Øien, OJ Buske, T Groza, JOB Jacobsen, C McNamara, ...
Current protocols in human genetics 103 (1), e92, 2019
342019
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ...
medRxiv, 2021.11. 27.21266944, 2021
132021
Metformin is associated with reduced COVID-19 severity in patients with prediabetes
LE Chan, E Casiraghi, B Laraway, B Coleman, H Blau, A Zaman, ...
Diabetes research and clinical practice 194, 110157, 2022
92022
GA4GH phenopackets: A practical introduction
MS Ladewig, JOB Jacobsen, AH Wagner, D Danis, B El Kassaby, ...
Advanced Genetics 4 (1), 2200016, 2023
82023
<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world
MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ...
Nucleic acids research 52 (D1), D1333-D1346, 2024
72024
Computational processing and quality control of Hi-C, capture Hi-C and Capture-C data
P Hansen, M Gargano, J Hecht, J Ibn-Salem, G Karlebach, JT Roehr, ...
Genes 10 (7), 548, 2019
72019
An online tool for biomarker analysis in Gene Expression Omnibus (GEO) datasets
J Dumas, M Gargano, GM Dancik
Cancer Research 76 (14_Supplement), 5292-5292, 2016
42016
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
LC Carmody, MA Gargano, S Toro, NA Vasilevsky, MP Adam, H Blau, ...
Med 4 (12), 913-927. e3, 2023
12023
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
JC Sundaramurthi, AM Bagley, H Blau, L Carmody, A Crandall, D Danis, ...
Molecular Case Studies 9 (4), a006293, 2023
12023
The Human Phenotype Ontology in 2024: phenotypes around the world.
P Talapova, MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ...
Nucleic Acids Research, Oxford University Press, 2023
2023
Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs (preprint)
J Reese, H Blau, T Bergquist, JJ Loomba, T Callahan, B Laraway, ...
2022
Daniel Danis, Julius OB Jacobsen, 2 Leigh C. Carmody, Michael A. Gargano, Julie A. McMurry, 3
A Hegde, MA Haendel, G Valentini, D Smedley, PN Robinson
The American Journal of Human Genetics 108, 1564-1577, 2021
2021
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