Papers matching “gene-disease association” 19
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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access
Peter D. Galer, Shiva Ganesan, David J. Lewis-Smith, Sarah McKeown Ruggiero, Manuela Pendziwiat, Katherine L. Helbig, +12 more
47citations -
Mondo: integrating disease terminology across communities2025 Genetics article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R. Mullen, Harshad Hegde, +88 more
28citations -
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis2025 Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Lipid metabolism and biosynthesis Open access
Mei Ding, Michaela Chocholoušková, Cheen Fei Chin, Martin Engvall, Helena Malmgren, Matias Wagner, +10 more
8citations -
monarch-initiative/monarch-app: v1.29.02026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
varun_divya, Kevin Schaper, Vincent Rubinetti, Patrick Golden, Sierra Moxon, Corey Cox, +16 more
0citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
4citations -
Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology
Georgia Sarquella‐Brugada, Andrea Mazzanti, Anwar Baban, Óscar Campuzano, Giulio Conte, Lia Crotti, +14 more
0citations -
monarch-initiative/monarch-app: v1.29.0-rc52026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
varun_divya, Kevin Schaper, Vincent Rubinetti, Patrick Golden, Sierra Moxon, Corey Cox, +16 more
0citations -
monarch-initiative/monarch-app: v1.30.02026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
varun_divya, Kevin Schaper, Vincent Rubinetti, Patrick Golden, Sierra Moxon, Corey Cox, +17 more
0citations -
Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities2025 Genetics in Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Clarissa J Klein, Li Gong, Kelly E. Caudle, Hetanshi Naik, Philip E. Empey, James M. Hoffman, +7 more
4citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
29citations
19 results