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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: dalgleish r. medRxiv [Preprint]. 2024 May 29:2024.05.29.24308104. doi: 10.1101/2024.05.29.24308104. medRxiv. 2024. Update in: HGG Adv. 2025 Jan 09;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. PMID: 38854034 Free PMC article. Updated. Preprint.
Dissecting the phenotypic variability of osteogenesis imperfecta.
Garibaldi N, Besio R, Dalgleish R, Villani S, Barnes AM, Marini JC, Forlino A. Garibaldi N, et al. Among authors: dalgleish r. Dis Model Mech. 2022 May 1;15(5):dmm049398. doi: 10.1242/dmm.049398. Epub 2022 May 16. Dis Model Mech. 2022. PMID: 35575034 Free PMC article.
126 results