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Publikationen
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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI. Orphanet J Rare Dis. 2024 Feb 7;19(1):46. doi: 10.1186/s13023-024-03075-3. PMID: 38326898 Free PMC article.
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. PMID: 37926714 Free PMC article.
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Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial
Poli S, Mbroh J, Baron JC, Singhal AB, Strbian D, Molina C, Lemmens R, Turc G, Mikulik R, Michel P, Tatlisumak T, Audebert HJ, Dichgans M, Veltkamp R, Hüsing J, Graessner H, Fiehler J, Montaner J, Adeyemi AK, Althaus K, Arenillas JF, Bender B, Benedikt F, Broocks G, Burghaus I, Cardona P, Deb-Chatterji M, Cviková M, Defreyne L, De Herdt V, Detante O, Ernemann U, Flottmann F, García Guillamón L, Glauch M, Gomez-Exposito A, Gory B, Sylvie Grand S, Haršány M, Hauser TK, Heck O, Hemelsoet D, Hennersdorf F, Hoppe J, Kalmbach P, Kellert L, Köhrmann M, Kowarik M, Lara-Rodríguez B, Legris L, Lindig T, Luntz S, Lusk J, Mac Grory B, Manger A, Martinez-Majander N, Mengel A, Meyne J, Müller S, Mundiyanapurath S, Naggara O, Nedeltchev K, Nguyen TN, Nilsson MA, Obadia M, Poli K, Purrucker JC, Räty S, Richard S, Richter H, Schilte C, Schlemm E, Stöhr L, Stolte B, Sykora M, Thomalla G, Tomppo L, van Horn N, Zeller J, Ziemann U, Zuern CS, Härtig F, Tuennerhoff J; PROOF investigators. Int J Stroke. 2024 Jan;19(1):120-126. doi: 10.1177/17474930231185275. Epub 2023 Aug 18. PMID: 37515459 Free PMC article.
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Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Maver A, Lohmann K, Borovečki F, Wolstenholme N, Taylor RL, Spielmann M, Haack TB, Gerberding M, Peterlin B, Graessner H. Eur J Hum Genet. 2024 Aug;32(8):1014-1021. doi: 10.1038/s41431-024-01639-2. Epub 2024 Jun 5. PMID: 38839988 Free PMC article.
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Dystonia management across Europe within ERN-RND: current state and future challenges
Centen LM, Pinter D, van Egmond ME, Graessner H, Kovacs N, Koy A, Perez-Dueñas B, Reinhard C, Tijssen MAJ, Boesch S. J Neurol. 2023 Feb;270(2):797-809. doi: 10.1007/s00415-022-11412-4. Epub 2022 Oct 6. PMID: 36201015 Free PMC article.
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Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. PMID: 37831128 Free PMC article.
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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Orphanet J Rare Dis. 2024 Feb 13;19(1):62. doi: 10.1186/s13023-024-03023-1. PMID: 38347616 Free PMC article.
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Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Klockgether T, Synofzik M; AGI working group on COAs and Registries. Cerebellum. 2024 Jun;23(3):924-930. doi: 10.1007/s12311-023-01547-z. Epub 2023 Apr 5. PMID: 37020147 Free PMC article. Review.
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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. Lab Anim (NY). 2024 Jul;53(7):161-165. doi: 10.1038/s41684-024-01395-2. PMID: 38914824 Free PMC article
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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. Eur J Neurol. 2024 Dec;31(12):e16446. doi: 10.1111/ene.16446. Epub 2024 Oct 24. PMID: 39447217 Free PMC article.
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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. Neurology. 2024 Sep 24;103(6):e209743. doi: 10.1212/WNL.0000000000209743. Epub 2024 Aug 22. PMID: 39173102 Free PMC article.
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Advancing ASO therapies from development to implementation
Schuele R, Synofzik M, Graessner H, Aartsma-Rus A. Nat Med. 2024 Oct;30(10):2725-2726. doi: 10.1038/s41591-024-03217-x. PMID: 39271846 No abstract available
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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. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. PMID: 39461972 Free PMC article.
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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. Eur J Hum Genet. 2024 Aug;32(8):998-1004. doi: 10.1038/s41431-024-01637-4. Epub 2024 May 31. PMID: 38822122 Free PMC article.
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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. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. PMID: 39302238 Free PMC article.
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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. Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. PMID: 38876765 Free article.
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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). Nat Rev Drug Discov. 2025 Jan;24(1):40-56. doi: 10.1038/s41573-024-01059-3. Epub 2024 Nov 4. PMID: 39496921 Review.
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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 ➔ Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. PMID: 39039281 Free PMC article.
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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. Update in: Genome Res. 2025 Apr 14;35(4):755-768. doi: 10.1101/gr.279414.124. PMID: 38746462 Free PMC article. Preprint.
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[Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study]
Witt S, Kristensen K, Blömeke J, Hebestreit H, Wocker M, Pfister L, Bullinger M, Tüscher O, Deckert J, Graessner H, Lapstich AM, Zwaan M, Mundlos C, Quitmann JH. Psychother Psychosom Med Psychol. 2023 Jan;73(1):9-15. doi: 10.1055/a-1814-3998. Epub 2022 Jul 6. PMID: 35793670 German.
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Eur J Hum Genet. 2024 Feb;32(2):182-189. doi: 10.1038/s41431-023-01486-7. Epub 2023 Nov 6. PMID: 37926714 Free PMC article.
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Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design
Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tüscher O, Bârlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graeßner H, Gündel H, Heuft G, Lücke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. PMID: 37855024 Free PMC article.
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Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Morris S, Vallortigara J, Greenfield J, Hunt B, Hoffman D, Reinhard C, Graessner H, Federico A, Quoidbach V, Giunti P. Orphanet J Rare Dis. 2023 Dec 7;18(1):382. doi: 10.1186/s13023-023-02971-4. PMID: 38062507 Free PMC article.
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Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial
Poli S, Mbroh J, Baron JC, Singhal AB, Strbian D, Molina C, Lemmens R, Turc G, Mikulik R, Michel P, Tatlisumak T, Audebert HJ, Dichgans M, Veltkamp R, Hüsing J, Graessner H, Fiehler J, Montaner J, Adeyemi AK, Althaus K, Arenillas JF, Bender B, Benedikt F, Broocks G, Burghaus I, Cardona P, Deb-Chatterji M, Cviková M, Defreyne L, De Herdt V, Detante O, Ernemann U, Flottmann F, García Guillamón L, Glauch M, Gomez-Exposito A, Gory B, Sylvie Grand S, Haršány M, Hauser TK, Heck O, Hemelsoet D, Hennersdorf F, Hoppe J, Kalmbach P, Kellert L, Köhrmann M, Kowarik M, Lara-Rodríguez B, Legris L, Lindig T, Luntz S, Lusk J, Mac Grory B, Manger A, Martinez-Majander N, Mengel A, Meyne J, Müller S, Mundiyanapurath S, Naggara O, Nedeltchev K, Nguyen TN, Nilsson MA, Obadia M, Poli K, Purrucker JC, Räty S, Richard S, Richter H, Schilte C, Schlemm E, Stöhr L, Stolte B, Sykora M, Thomalla G, Tomppo L, van Horn N, Zeller J, Ziemann U, Zuern CS, Härtig F, Tuennerhoff J; PROOF investigators. Int J Stroke. 2024 Jan;19(1):120-126. doi: 10.1177/17474930231185275. Epub 2023 Aug 18. PMID: 37515459 Free PMC article.
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Dystonia management across Europe within ERN-RND: current state and future challenges
Centen LM, Pinter D, van Egmond ME, Graessner H, Kovacs N, Koy A, Perez-Dueñas B, Reinhard C, Tijssen MAJ, Boesch S. J Neurol. 2023 Feb;270(2):797-809. doi: 10.1007/s00415-022-11412-4. Epub 2022 Oct 6. PMID: 36201015 Free PMC article.
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Rare Diseases in Hospital Information Systems-An Interoperable Methodology for Distributed Data Quality Assessments
Tahar K, Martin T, Mou Y, Verbuecheln R, Graessner H, Krefting D. Methods Inf Med. 2023 Sep;62(3-04):71-89. doi: 10.1055/a-2006-1018. Epub 2023 Jan 3. PMID: 36596461 Free PMC article.
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Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. PMID: 37098531 Free PMC article.
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Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. PMID: 37831128 Free PMC article.
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Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
Aartsma-Rus A, van Roon-Mom W, Lauffer M, Siezen C, Duijndam B, Coenen-de Roo T, Schüle R, Synofzik M, Graessner H. RNA. 2023 Apr;29(4):446-454. doi: 10.1261/rna.079540.122. Epub 2023 Jan 20. PMID: 36669889 Free PMC article.
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Local Data Quality Assessments on EHR-Based Real-World Data for Rare Diseases
Tahar K, Verbuecheln R, Martin T, Graessner H, Krefting D. Stud Health Technol Inform. 2023 May 18;302:292-296. doi: 10.3233/SHTI230121. PMID: 37203665
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Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Klockgether T, Synofzik M; AGI working group on COAs and Registries. Cerebellum. 2024 Jun;23(3):924-930. doi: 10.1007/s12311-023-01547-z. Epub 2023 Apr 5. PMID: 37020147 Free PMC article. Review.
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Patient pathways for rare diseases in Europe: ataxia as an example
Vallortigara J, Greenfield J, Hunt B, Hoffman D, Reinhard C, Graessner H, Federico A, Quoidbach V, Morris S, Giunti P. Orphanet J Rare Dis. 2023 Oct 17;18(1):328. doi: 10.1186/s13023-023-02907-y. PMID: 37848998 Free PMC article.
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Management of rare movement diseases in different world regions
Painous C, Martí MJ, Graessner H, Camargo AP, El-Jaafary SI, Martínez-Ramírez D, Ojo OO, Taiwo FT, Rajan R, Cornejo-Olivas M, Ayele BA, Tibar H, Kearney M, Gatto E, Tijssen MA; Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society. Parkinsonism Relat Disord. 2023 Mar;108:105286. doi: 10.1016/j.parkreldis.2023.105286. Epub 2023 Jan 14. PMID: 36669905
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium. Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5. PMID: 37138343 Free PMC article
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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. Neurology. 2024 Sep 24;103(6):e209743. doi: 10.1212/WNL.0000000000209743. Epub 2024 Aug 22. PMID: 39173102 Free PMC article.
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Key priorities in rare neurological diseases: A statement from the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology
Mancuso M, Graessner H, de Visser M, Arsovska A, Bhatia K. Eur J Neurol. 2023 Jun;30(6):1553-1554. doi: 10.1111/ene.15752. Epub 2023 Mar 12. PMID: 36807474 No abstract available.
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. PMID: 36681873 Free article.
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. PMID: 37009414 Free PMC article.
Zu Pubmed -
The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.
Rillig F, Grüters A, Bäumer T, Hoffmann GF, Choukair D, Berner R, Lee-Kirsch MA, Mücke M, Grasemann C, Ripke A, Zeltner L, Müller G, Glauch M, Graessner H, Hauck F, Klein C, Nöthen MM, Riess O, Mundlos S, Meitinger T, Kurt T, Wainwright KL, Schmitt J, Schramm C, Krude H. Dtsch Arztebl Int. 2022 Jul 11;(Forthcoming):arztebl.m2022.0219. doi: 10.3238/arztebl.m2022.0219. Online ahead of print.PMID: 35635437 Free article.
Zu Pubmed -
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Eur J Hum Genet. 2022 May 16. doi: 10.1038/s41431-022-01113-x. Online ahead of print.PMID: 35577938
Zu Pubmed -
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
Klockgether T, Ashizawa T, Brais B, Chuang R, Durr A, Fogel B, Greenfield J, Hagen S, Jardim LB, Jiang H, Onodera O, Pedroso JL, Soong BW, Szmulewicz D, Graessner H, Synofzik M; Ataxia Global Initiative (AGI).Mov Disord. 2022 Apr 27. doi: 10.1002/mds.29032. Online ahead of print.PMID: 35475582 No abstract available.
Zu Pubmed -
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Aleksovska K, Kobulashvili T, Costa J, Zimmermann G, Ritchie K, Reinhard C, Vignatelli L, Fanciulli A, Damian M, Pavlakova L, Burgunder JM, Kopishinskaya S, Rakusa M, Kovacs N, Erdogan FF, Linton LR, Copetti M, Lamperti C, Servidei S, Evangelista T, Ayme S, Pareyson D, Sellner J, Krarup C, de Visser M, van den Bergh P, Toscano A, Graessner H, Berger T, Bassetti C, Vidailhet M, Trinka E, Deuschl G, Federico A, Leone MA. Eur J Neurol. 2022 Jun;29(6):1571-1586. doi: 10.1111/ene.15267. Epub 2022 Mar 23.PMID: 35318776
Zu Pubmed -
Development of a patient journey map for people living with cervical dystonia.
Benson M, Albanese A, Bhatia KP, Cavillon P, Cuffe L, König K, Reinhard C, Graessner H. Orphanet J Rare Dis. 2022 Mar 21;17(1):130. doi: 10.1186/s13023-022-02270-4.PMID: 35313909 Free PMC article.
Zu Pubmed -
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1.PMID: 35164804 Free PMC article.
Zu Pubmed -
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.
Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A. Nucleic Acid Ther. 2022 Apr;32(2):83-94. doi: 10.1089/nat.2021.0039. Epub 2021 Sep 29.PMID: 34591693 Free PMC article.
Zu Pubmed -
[se-atlas.de-Medical care atlas for people with rare diseases].
Neff M, Schaaf J, Tegtbauer N, Schäfer J, Till M, Wagner TOF, Graeßner H, Mundlos C, Storf H. Internist (Berl). 2021 Oct;62(10):1115-1122. doi: 10.1007/s00108-021-01085-y. Epub 2021 Jul 20.PMID: 34283250 Free PMC article. Review. German.
Zu Pubmed -
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1.PMID: 34075208 Free PMC article.
Zu Pubmed -
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.
Tumiene B, Graessner H. J Community Genet. 2021 Apr;12(2):231-239. doi: 10.1007/s12687-021-00520-9. Epub 2021 Mar 18.PMID: 33738760 Free PMC article.
Zu Pubmed -
The European Reference Network for Rare Neurological Diseases.
Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.PMID: 33519696 Free PMC article. Review.
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