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Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!
Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, Robinson PN, Griese M; ChILD EU Collaborators. Knoflach K, et al. Among authors: robinson pn. Pediatr Pulmonol. 2023 Apr;58(4):1106-1121. doi: 10.1002/ppul.26301. Epub 2023 Jan 13. Pediatr Pulmonol. 2023. PMID: 36588100 Free PMC article.
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Cacheiro P, Carmody LC, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: robinson pn. medRxiv [Preprint]. 2024 May 29:2024.05.29.24308104. doi: 10.1101/2024.05.29.24308104. medRxiv. 2024. PMID: 38854034 Free PMC article. Preprint.
Association of post-COVID phenotypic manifestations with new-onset psychiatric disease.
Coleman B, Casiraghi E, Callahan TJ, Blau H, Chan LE, Laraway B, Clark KB, Re'em Y, Gersing KR, Wilkins KJ, Harris NL, Valentini G, Haendel MA, Reese JT, Robinson PN. Coleman B, et al. Among authors: robinson pn. Transl Psychiatry. 2024 Jun 8;14(1):246. doi: 10.1038/s41398-024-02967-z. Transl Psychiatry. 2024. PMID: 38851761 Free PMC article.
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP. Werren EA, et al. Among authors: robinson pn. bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590108. doi: 10.1101/2024.04.18.590108. bioRxiv. 2024. PMID: 38712026 Free PMC article. Preprint.
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.
Chan LE, Casiraghi E, Reese J, Harmon QE, Schaper K, Hegde H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, Robinson PN, Haendel MA. Chan LE, et al. Among authors: robinson pn. Int J Med Inform. 2024 Jul;187:105461. doi: 10.1016/j.ijmedinf.2024.105461. Epub 2024 Apr 17. Int J Med Inform. 2024. PMID: 38643701 Free article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Among authors: robinson pn. Genet Med. 2024 Apr 15;26(7):101141. doi: 10.1016/j.gim.2024.101141. Online ahead of print. Genet Med. 2024. PMID: 38629401 Free article.
An open source knowledge graph ecosystem for the life sciences.
Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, Robinson PN, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE. Callahan TJ, et al. Among authors: robinson pn. Sci Data. 2024 Apr 11;11(1):363. doi: 10.1038/s41597-024-03171-w. Sci Data. 2024. PMID: 38605048 Free PMC article.
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.
Cappelletti L, Rekerle L, Fontana T, Hansen P, Casiraghi E, Ravanmehr V, Mungall CJ, Yang JJ, Spranger L, Karlebach G, Caufield JH, Carmody L, Coleman B, Oprea TI, Reese J, Valentini G, Robinson PN. Cappelletti L, et al. Among authors: robinson pn. Bioinform Adv. 2024 Mar 4;4(1):vbae036. doi: 10.1093/bioadv/vbae036. eCollection 2024. Bioinform Adv. 2024. PMID: 38577542 Free PMC article.
392 results