Ray Stefancsik
Overview
Explore the profile of Ray Stefancsik including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
12
Citations
2812
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
Genetics
. 2025 Mar;
PMID: 40048704
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
2.
Cerezo M, Sollis E, Ji Y, Lewis E, Abid A, Bircan K, et al.
Nucleic Acids Res
. 2024 Nov;
53(D1):D998-D1005.
PMID: 39530240
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to...
3.
Cerezo M, Sollis E, Ji Y, Lewis E, Abid A, Bircan K, et al.
bioRxiv
. 2024 Nov;
PMID: 39484403
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to...
4.
Toro S, Anagnostopoulos A, Bello S, Blumberg K, Cameron R, Carmody L, et al.
J Biomed Semantics
. 2024 Oct;
15(1):19.
PMID: 39415214
Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in an accurate and computable form. However, their construction and...
5.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
bioRxiv
. 2024 Sep;
PMID: 39345458
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
6.
Putman T, Schaper K, Matentzoglu N, Rubinetti V, Alquaddoomi F, Cox C, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D938-D949.
PMID: 38000386
Bridging the gap between genetic variations, environmental determinants, and phenotypic outcomes is critical for supporting clinical diagnosis and understanding mechanisms of diseases. It requires integrating open data at a global...
7.
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...
8.
Stefancsik R, Balhoff J, Balk M, Ball R, Bello S, Caron A, et al.
Mamm Genome
. 2023 Apr;
34(3):364-378.
PMID: 37076585
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic...
9.
Stefancsik R, Balhoff J, Balk M, Ball R, Bello S, Caron A, et al.
bioRxiv
. 2023 Feb;
PMID: 36747660
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic...
10.
Sollis E, Mosaku A, Abid A, Buniello A, Cerezo M, Gil L, et al.
Nucleic Acids Res
. 2022 Nov;
51(D1):D977-D985.
PMID: 36350656
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare...