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Page 1
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.
Jonker AH, Tataru EA, Graessner H, Dimmock D, Jaffe A, Baynam G, Davies J, Mitkus S, Iliach O, Horgan R, Augustine EF, Bateman-House A, Pasmooij AMG, Yu T, Synofzik M, Douville J, Lapteva L, Brooks PJ, O'Connor D, Aartsma-Rus A; N-of-1 Task Force of the International Rare Diseases Research Consortium (IRDiRC). Jonker AH, et al. Among authors: graessner h. Nat Rev Drug Discov. 2024 Nov 4. doi: 10.1038/s41573-024-01059-3. Online ahead of print. Nat Rev Drug Discov. 2024. PMID: 39496921 Review.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND).
Wittebrood C, Boban M, Cagnin A, Capellari S, De Winter FL, Djamshidian A, González MM, Hjermind LE, Krajcovicova L, Krüger J, Levin J, Reetz K, Rodriguez ER, Rohrer J, Van Langenhove T, Reinhard C, Graessner H, Rusina R, Saracino D, Houot M, Seelar H, Vandenberghe R. Wittebrood C, et al. Among authors: graessner h. Eur J Neurol. 2024 Dec;31(12):e16446. doi: 10.1111/ene.16446. Epub 2024 Oct 24. Eur J Neurol. 2024. PMID: 39447217 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Among authors: graessner h. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Advancing ASO therapies from development to implementation.
Schuele R, Synofzik M, Graessner H, Aartsma-Rus A. Schuele R, et al. Among authors: graessner h. Nat Med. 2024 Oct;30(10):2725-2726. doi: 10.1038/s41591-024-03217-x. Nat Med. 2024. PMID: 39271846 No abstract available.
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, Wolf NI. Schoenmakers DH, et al. Among authors: graessner h. Neurology. 2024 Sep 24;103(6):e209743. doi: 10.1212/WNL.0000000000209743. Epub 2024 Aug 22. Neurology. 2024. PMID: 39173102 Free PMC article.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Among authors: graessner h. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Ellwanger K, Brill JA, de Boer E, Efthymiou S, Elgersma Y, Icmat M, Lecoquierre F, Lobato AG, Morleo M, Ori M, Schaffer AE, Vitobello A, Wells S, Yalcin B, Zhai RG, Sturm M, Zurek B, Graessner H, Bermejo-Sánchez E, Evangelista T, Hoogerbrugge N, Nigro V, Schüle R, Verloes A, Brunner H, Campeau PM, Lasko P, Riess O. Ellwanger K, et al. Among authors: graessner h. Lab Anim (NY). 2024 Jul;53(7):161-165. doi: 10.1038/s41684-024-01395-2. Lab Anim (NY). 2024. PMID: 38914824 Free PMC article.
Global health for rare diseases through primary care.
Baynam G, Hartman AL, Letinturier MCV, Bolz-Johnson M, Carrion P, Grady AC, Dong X, Dooms M, Dreyer L, Graessner H, Granados A, Groza T, Houwink E, Jamuar SS, Vasquez-Loarte T, Tumiene B, Wiafe SA, Bjornson-Pennell H, Groft S. Baynam G, et al. Among authors: graessner h. Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. Lancet Glob Health. 2024. PMID: 38876765 Free article.
74 results