Zentrum für Seltene Erkrankungen

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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 Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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 Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

[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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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 Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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 Zu Pubmed

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 Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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. Zu Pubmed

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.

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European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

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Development of a patient journey map for people living with cervical dystonia.

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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.

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Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.

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[se-atlas.de-Medical care atlas for people with rare diseases].

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

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Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.

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The European Reference Network for Rare Neurological Diseases.

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