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Author Details
Full Name
Michael Gargano
Affiliation
ORCID
Career Start Year
2019
Papers
16
H Index
7
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37684057
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Cold Spring Harb Mol Case Stud
2024
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
37503136
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.
medRxiv
2023
37963467
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Med
2023
36093353
Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes.
medRxiv
2022
35705716
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
2022
35665012
Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs.
medRxiv
2022
36400170
Metformin is associated with reduced COVID-19 severity in patients with prediabetes.
Diabetes Res Clin Pract
2022
36910590
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
2022
33264411
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
2021
34739835
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
2021
34289339
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
2021
32755546
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
2020
30476213
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
2019
31479590
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
2019
31323892
Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data.
Genes (Basel)
2019
1 - 16 of 16
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