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Page 1
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: graefe asl. 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.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, 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: graefe asl. HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Epub 2024 Oct 10. HGG Adv. 2025. PMID: 39394689 Free PMC article.
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L, Danis D, Rehburg F, Graefe AS, Bily V, Caballero-Oteyza A, Cacheiro P, Chimirri L, Chong JX, Connelly E, de Vries BB, Dingemans AJ, Duyzend MH, Freiberger T, Gehle P, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Ladewig MS, Love MI, Marcello AJ, Mordhorst A, Munoz-Torres MC, Reese J, Schütz C, Smedley D, Strauss T, Vladyka O, Zocche D, Thun S, Mungall CJ, Haendel MA, Robinson PN. Rekerle L, et al. medRxiv [Preprint]. 2025 Mar 6:2025.03.05.25323315. doi: 10.1101/2025.03.05.25323315. medRxiv. 2025. PMID: 40093222 Free PMC article. Preprint.
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.
Graefe ASL, Rehburg F, Alkarkoukly S, Danis D, Grönke A, Hübner MR, Bartschke A, Debertshäuser T, Klopfenstein SAI, Saß J, Fleck J, Rehberg M, Zschüntzsch J, Nyoungui EF, Kalashnikova T, Murguía-Favela L, Derfalvi B, Wright NAM, Moosa S, Ogishima S, Semler O, Wiegand S, Kühnen P, Mungall CJ, Haendel MA, Robinson PN, Thun S, Beyan O. Graefe ASL, et al. medRxiv [Preprint]. 2025 May 11:2025.05.09.25327342. doi: 10.1101/2025.05.09.25327342. medRxiv. 2025. PMID: 40385395 Free PMC article. Preprint.
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.
Chimirri L, Caufield JH, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, Chen S, Danis D, Dingemans AJ, Gehle P, Graefe ASL, Gu W, Ladewig MS, Lapunzina P, Nevado J, Niyonkuru E, Ogishima S, Seelow D, Castaño JAT, Turnovec M, de Vries BB, Wang K, Wissink K, Yüksel Z, Zucca G, Haendel MA, Mungall CJ, Reese J, Robinson PN. Chimirri L, et al. Among authors: graefe asl. medRxiv [Preprint]. 2025 Feb 28:2025.02.26.25322769. doi: 10.1101/2025.02.26.25322769. medRxiv. 2025. PMID: 40061308 Free PMC article. Preprint.