| The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 771 | 2021 |
| 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 | 703 | 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 | 222 | 2020 |
| Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021 | 189 | 2021 |
| Multivalent interactions of calcium/calmodulin-dependent protein kinase II with the postsynaptic density proteins NR2B, densin-180, and α-actinin-2 AJ Robison, MA Bass, Y Jiao, LB MacMillan, LC Carmody, RK Bartlett, ... Journal of Biological Chemistry 280 (42), 35329-35336, 2005 | 154 | 2005 |
| Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics … P Horak, M Griffith, AM Danos, BA Pitel, S Madhavan, X Liu, C Chow, ... Genetics in Medicine 24 (5), 986-998, 2022 | 118 | 2022 |
| The neuronal actin-binding proteins, neurabin I and neurabin II, recruit specific isoforms of protein phosphatase-1 catalytic subunits RT Terry-Lorenzo, LC Carmody, JW Voltz, JH Connor, S Li, FD Smith, ... Journal of Biological Chemistry 277 (31), 27716-27724, 2002 | 107 | 2002 |
| Interpretable clinical genomics with a likelihood ratio paradigm PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ... The American Journal of Human Genetics 107 (3), 403-417, 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 | 61 | 2022 |
| A protein phosphatase-1γ1 isoform selectivity determinant in dendritic spine-associated neurabin LC Carmody, PA Bauman, MA Bass, N Mavila, AA DePaoli-Roach, ... Journal of Biological Chemistry 279 (21), 21714-21723, 2004 | 59 | 2004 |
| Interpretable prioritization of splice variants in diagnostic next-generation sequencing D Danis, JOB Jacobsen, LC Carmody, MA Gargano, JA McMurry, ... The American Journal of Human Genetics 108 (9), 1564-1577, 2021 | 55 | 2021 |
| 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 | 48 | 2019 |
| Diversity-oriented synthesis yields a new drug lead for treatment of Chagas disease S Dandapani, AR Germain, I Jewett, S le Quement, JC Marie, ... ACS medicinal chemistry letters 5 (2), 149-153, 2014 | 47 | 2014 |
| Selective targeting of the γ1 isoform of protein phosphatase 1 to F-actin in intact cells requires multiple domains in spinophilin and neurabin LC Carmody, AJ Baucum, MA Bass, RJ Colbran The FASEB journal: official publication of the Federation of American …, 2008 | 46 | 2008 |
| Identification of a selective small molecule inhibitor of breast cancer stem cells AR Germain, LC Carmody, B Morgan, C Fernandez, E Forbeck, TA Lewis, ... Bioorganic & medicinal chemistry letters 22 (10), 3571-3574, 2012 | 45 | 2012 |
| Identification and validation of novel spinophilin-associated proteins in rodent striatum using an enhanced ex vivo shotgun proteomics approach AJ Baucum II, N Jalan-Sakrikar, Y Jiao, RM Gustin, LC Carmody, DL Tabb, ... Molecular & Cellular Proteomics 9 (6), 1243-1259, 2010 | 45 | 2010 |
| <? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world MA Gargano, N Matentzoglu, B Coleman, EB Addo-Lartey, ... Nucleic acids research 52 (D1), D1333-D1346, 2024 | 41 | 2024 |
| Plain-language medical vocabulary for precision diagnosis NA Vasilevsky, ED Foster, ME Engelstad, L Carmody, M Might, ... Nature genetics 50 (4), 474-476, 2018 | 40 | 2018 |
| Encoding clinical data with the human phenotype ontology for computational differential diagnostics S Köhler, NC Øien, OJ Buske, T Groza, JOB Jacobsen, C McNamara, ... Current protocols in human genetics 103 (1), e92, 2019 | 36 | 2019 |
| Phenotypic high-throughput screening elucidates target pathway in breast cancer stem cell–like cells LC Carmody, AR Germain, L VerPlank, PP Nag, B Muñoz, JR Perez, ... Journal of biomolecular screening 17 (9), 1204-1210, 2012 | 36 | 2012 |
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany在 bih-charite.de 的电子邮件经过验证
