Search Results - "Rekerle L"

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Authors: Arterbery AS Gargano MA Bagley A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jan 18. Date of Electronic Publication: 2026 Jan 18.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Authors: Rekerle L Danis D Rehburg F et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 57-70. Date of Electronic Publication: 2025 Dec 23.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Phenopacket-tools: Building and validating GA4GH Phenopackets.

Authors: Danis D Jacobsen JOB Wagner AH et al.

Source: PloS one [PLoS One] 2023 May 17; Vol. 18 (5), pp. e0285433. Date of Electronic Publication: 2023 May 17 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Authors: Rekerle L Danis D Rehburg F et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Mar 06. Date of Electronic Publication: 2025 Mar 06.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

RNA knowledge-graph analysis through homogeneous embedding methods.

Authors: Torgano, Francesco Gomez, Mauricio Soto Zignani, Matteo et al.

Source: Bioinformatics Advances. 2025, Vol. 5 Issue 1, p1-9. 9p.

Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.

Authors: Cappelletti L Rekerle L Fontana T et al.

Source: Bioinformatics advances [Bioinform Adv] 2024 Mar 04; Vol. 4 (1), pp. vbae036. Date of Electronic Publication: 2024 Mar 04 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918282081306676 Publication Model: eCollection Cited Medium: Internet ISSN: 2635-0041 (Electronic) Linking ISSN: 26350041 NLM ISO Abbreviation: Bioinform Adv Subsets: PubMed not MEDLINE

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Authors: Tumiene B Adams DR Allaway R et al.

Source: Human genomics [Hum Genomics] 2026 Mar 25; Vol. 20 (1). Date of Electronic Publication: 2026 Mar 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

DSS-PPI: a self-supervised graph learning framework for protein-protein interaction prediction via multimodal sequence semantics.

Authors: Li S Wang Y Zhang H et al.

Source: BMC genomics [BMC Genomics] 2026 Mar 21; Vol. 27 (1). Date of Electronic Publication: 2026 Mar 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.

Authors: Leist, Ivo C. Rivas-Torrubia, María Alarcón-Riquelme, Marta E. et al.

Source: BMC Bioinformatics. 12/4/2024, Vol. 25 Issue 1, p1-20. 20p.

Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.

Authors: Campos-Garcia FJ Castillo-Espinola AM Medina-Escobedo CE et al.

Source: Pediatric cardiology [Pediatr Cardiol] 2026 Jan 24. Date of Electronic Publication: 2026 Jan 24.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.

Authors: Campos-Garcia FJ Castillo-Espinola AM Medina-Escobedo CE et al.

Source: Pediatric cardiology [Pediatr Cardiol] 2025 Nov 17. Date of Electronic Publication: 2025 Nov 17.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

Authors: Graefe ASL Rehburg F Alkarkoukly S et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 18; Vol. 10 (1), pp. 72. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

The Human Phenotype Ontology in 2024: phenotypes around the world.

Authors: Gargano MA Matentzoglu N Coleman B et al.

Source: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Authors: Khang R Lee H Kim J et al.

Source: Human mutation [Hum Mutat] 2025 Feb 27; Vol. 2025, pp. 6096758. Date of Electronic Publication: 2025 Feb 27 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE