Marc Hanauer
Overview
Explore the profile of Marc Hanauer including associated specialties, affiliations and a list of published articles.
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9
Citations
891
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Recent Articles
1.
Hayn D, Sandner E, Vengadeswaran A, Tataru E, Wilkinson M, Hanauer M, et al.
Stud Health Technol Inform
. 2024 Aug;
316:1442-1446.
PMID: 39176652
Secondary use of data for research purposes is especially important in rare diseases (RD), since, per definition, data are sparse. The European Joint Programme on Rare Diseases (EJP RD) aims...
2.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
3.
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, et al.
Eur J Hum Genet
. 2023 Nov;
32(2):182-189.
PMID: 37926714
Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis....
4.
Salgado D, Armean I, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, et al.
F1000Res
. 2021 Aug;
9.
PMID: 34367618
Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While "High-Throughput" sequencing technologies are increasingly becoming the primary choice for genomic...
5.
Kaliyaperumal R, Queralt Rosinach N, Burger K, Bonino da Silva Santos L, Hanauer M, Roos M
Stud Health Technol Inform
. 2021 May;
279:144-146.
PMID: 33965931
Background: Integration of heterogenous resources is key for Rare Disease research. Within the EJP RD, common Application Programming Interface specifications are proposed for discovery of resources and data records. This...
6.
Kohler S, Gargano M, Matentzoglu N, Carmody L, Lewis-Smith D, Vasilevsky N, et al.
Nucleic Acids Res
. 2020 Dec;
49(D1):D1207-D1217.
PMID: 33264411
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is...
7.
Kohler S, Carmody L, Vasilevsky N, Jacobsen J, Danis D, Gourdine J, et al.
Nucleic Acids Res
. 2018 Nov;
47(D1):D1018-D1027.
PMID: 30476213
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its...
8.
Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, et al.
Eur J Med Genet
. 2018 Feb;
61(11):706-714.
PMID: 29425702
HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project...
9.
Baynam G, Bowman F, Lister K, Walker C, Pachter N, Goldblatt J, et al.
Adv Exp Med Biol
. 2017 Dec;
1031:55-94.
PMID: 29214566
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which...