Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 710 | 2019 |
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020 | 229 | 2020 |
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ... American Journal of Human Genetics, 2020 | 80 | 2020 |
Mondo: Unifying diseases for the world, by the world NA Vasilevsky, NA Matentzoglu, S Toro, JE Flack IV, H Hegde, DR Unni, ... medRxiv, 2022.04. 13.22273750, 2022 | 66 | 2022 |
BAIAP3, a C2 domain–containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells X Zhang, S Jiang, KA Mitok, L Li, AD Attie, TFJ Martin Journal of Cell Biology 216 (7), 2151-2166, 2017 | 52 | 2017 |
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery XA Zhang, A Yates, N Vasilevsky, JP Gourdine, TJ Callahan, LC Carmody, ... NPJ digital medicine 2 (1), 32, 2019 | 47 | 2019 |
Resident CAPS on dense-core vesicles docks and primes vesicles for fusion G Kabachinski, DM Kielar-Grevstad, X Zhang, DJ James, TFJ Martin Molecular biology of the cell 27 (4), 654-668, 2016 | 39 | 2016 |
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+ remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes LC Carmody, H Blau, D Danis, XA Zhang, JP Gourdine, N Vasilevsky, ... Orphanet journal of rare diseases 15, 1-13, 2020 | 30 | 2020 |
The impact of biological sex on alternative splicing G Karlebach, DFT Veiga, AD Mays, C Chatzipantsiou, PP Barja, ... BioRxiv, 490904, 2018 | 19 | 2018 |
Ontologizing health systems data at scale: making translational discovery a reality TJ Callahan, AL Stefanski, JM Wyrwa, C Zeng, A Ostropolets, JM Banda, ... npj Digital Medicine 6 (1), 89, 2023 | 13 | 2023 |
Ambient air pollutants and traffic factors were associated with blood and urine biomarkers and asthma risk H Cheng, AD Narzo, D Howell, K Yevdokimova, J Zhang, X Zhang, Q Pan, ... Environmental Science & Technology 56 (11), 7298-7307, 2022 | 12 | 2022 |
Phenotype Ontologies Traversing All The Organisms (POTATO) workshop aims to reconcile logical definitions across species. Workshop Report N Matentzoglu, J Balhoff, S Bello, C Boerkoel, Y Bradford, L Carmody, ... | 11 | 2018 |
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery JPF Gourdine, MH Brush, NA Vasilevsky, K Shefchek, S Köhler, ... Database 2019, baz114, 2019 | 8 | 2019 |
Research Progress on Degradation and metabolism of Foreign DNA in Genetically Modified Food (GMF) X Zhang, H Yu, J Wei, G Gao, K Zhang Journal of Agricultural Science and Technology 10 (1), 52-57, 2008 | 5* | 2008 |
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease LC Carmody, MA Gargano, S Toro, NA Vasilevsky, MP Adam, H Blau, ... Med 4 (12), 913-927. e3, 2023 | 4 | 2023 |
High throughput NPY-Venus and serotonin secretion assays for regulated exocytosis in neuroendocrine cells XA Zhang, TFJ Martin Bio-protocol 8 (1), e2680-e2680, 2018 | 3 | 2018 |
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke JL Rodriguez-Flores, S Khalid, N Parikshak, A Rasheed, B Ye, M Kapoor, ... Nature Communications 15 (1), 8029, 2024 | 1 | 2024 |
Ethnic disparities in ambient air and traffic-related pollution exposure and ethnic-specific impacts on clinical biomarker levels K Hao, J Zhang, A Di Narzo, X Zhang, A Hao, M Shan, M Deyssenroth, ... Science of The Total Environment 873, 162390, 2023 | 1 | 2023 |
Analysis of real-world data to investigate evolving treatment sequencing patterns in advanced non-small cell lung cancers and their impact on survival Z Liu, K Lee, D Cohn, M Zhang, L Ai, M Li, X Zhang, T Jun, MK Higashi, ... Journal of Thoracic Disease 15 (5), 2438, 2023 | 1 | 2023 |
HSD34 Treatment Patterns and Healthcare-Resource Utilization Among Chronic Rhinosinusitis with Nasal Polyps Patients: In the New Era of Biologics L Jin, L Ai, K Lee, Z Liu, K Raja, D Cohn, XA Zhang, M Higashi, T Jun, ... Value in Health 25 (7), S486, 2022 | 1 | 2022 |