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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: danis d. Nat Med. 2025 Jun 19. doi: 10.1038/s41591-025-03754-z. Online ahead of print. Nat Med. 2025. PMID: 40537530 No abstract available.
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. Among authors: danis d. medRxiv [Preprint]. 2025 May 11:2025.05.09.25327342. doi: 10.1101/2025.05.09.25327342. medRxiv. 2025. PMID: 40385395 Free PMC article. Preprint.
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. Among authors: danis d. medRxiv [Preprint]. 2025 Mar 6:2025.03.05.25323315. doi: 10.1101/2025.03.05.25323315. medRxiv. 2025. PMID: 40093222 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: danis d. medRxiv [Preprint]. 2025 Feb 28:2025.02.26.25322769. doi: 10.1101/2025.02.26.25322769. medRxiv. 2025. PMID: 40061308 Free PMC article. Preprint.
155 results