Rezultaty Documents, reports (20) 3.500 collected data sets from associated ERNs and undiagnosed disease programmes Collect standardized phenotypic and genotypic information of large number of undiagnosed RD from associated ERNs and undiagnosed disease programmes. Report on new matchmaking strategies Work out best practices for evaluation and reporting of results First training for ePAGs delivered Training ERN patient representatives in scientific innovation and genome diagnostics. Guidelines for exome/genome re-analysis Guidelines for exome/genome re-analysis provided by the Data Analyses Task Force. Publication: Synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS Publication on the synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS All foundational standards selected and implemented across the project Provide all foundational standards selected and implemented across the project. Second training for ePAGs delivered Training ERN patient representatives in scientific innovation and genome diagnostics. Deployment of PhenoTips custom forms according to the ERNs specifications In this task we will make the necessary adaptations to PhenoTips allowing for the collection of phenotype data from unsolved cases coming from ERNs. The requirements for the templates will be prepared by the ERNs. Central RD-Connect database serving Solve-RD, including user authentication and authorization Database and data sharing aspects of the project. Metadata catalog operational, with initial content Metadata aspects of the project. Guidelines for molecular genetics of rare disorders The final guideline and its impact will be presented at international meetings published in the scientific literature and via digital media Bespoke Phenotips frontends for associated ERNs and undiagnosed disease programmes Bespoke Phenotips frontends for collection of clinical information of unsolved patients from associated ERNs and undiagnosed disease programmes will be created. Treatabolome database The Treatabolome: flagging treatable genes and variants. The database will be connected to the RD-Connect genomic analysis platform and made accessible as part of the real-time analysis of the patients undergoing sequencing or exome analysis within Solve-RD as a proof of concept for the utility of the approach. Guidelines for collection of experimental data Good practice guidance will be provided in order to ensure the quality of data. Publication: EBCD findings in at least 2 different HCPs including in one ERN Publication of the EBCD method used within the initial two ERNs in order to provide the opportunity for the other 22 ERNs to adopt the findings or follow a similar process to co-design their own intervention or services. Solve-RD communication and dissemination tools Solve-RD communication and dissemination tools like press releases, research briefs, research summary documents, policy brief, newsletter, publication in popular press, peer-reviewed journals, wide-audience journals with a high impact factor, publication of papers, reviews on different topics, organisation of symposia and presentation meetings, outreach to patient community and health care provider (networking). Training modules, guidance document and online help module for collection of phenotypes Training and good practice guidance will be provided in order to ensure the quality of data at the source, based on users’ guides already in place around HPO and PhenoTips 4 workshops, videoconferences and jamborees for hands-on discussion on diagnostic hypothesis Workshops/jamborees and videoconferences for ultrarare and « unsolvable symptoms » will be organized in order to engage ERNs in the phenotypic delineation of these RD, and to potentially elaborate and discuss diagnostic hypothesis derived from the ontological approach for unsolvable cases. Guidelines for Quality Control metrics Guidelines for Quality Control metrics provided by the Data Analyses Task Force. Complete Solve-RD bioinformatics platform operational Provide complete Solve-RD bioinformatics platform. Publikacje Peer reviewed articles (210) Comprehensive de novo mutation discovery with HiFi long-read sequencing Autorzy: Kucuk E, van der Sanden BPGH, O'Gorman L, Kwint M, Derks R, Wenger AM, Lambert C, Chakraborty S, Baybayan P, Rowell WJ, Brunner HG, Vissers LELM, Hoischen A, Gilissen C. Opublikowane w: Genome Med., Numer 15(1):34, 2023, ISSN 1756-994X Wydawca: BioMed Central DOI: 10.1186/s13073-023-01183-6 Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder Autorzy: Francesca Magrinelli, MD, PhD, Clarissa Rocca, MSc, Roberto Simone, PhD, Riccardo Zenezini Chiozzi, PhD, Zane Jaunmuktane, MD, FRCPath, Niccolò E. Mencacci, MD, PhD, Michele Tinazzi, MD, PhD, Sandeep Jayawant, MD, Andrea H. Nemeth, MD, PhD, German Demidov, PhD, Henry Houlden, MD, PhD, andKailash P. Bhatia, MD, DM, FRCP Opublikowane w: Movement Disorders, Numer Volume 38, Numer 2, 2022, Strona(/y) Pages 347-353, ISSN 0885-3185 Wydawca: John Wiley & Sons Inc. DOI: 10.1002/mds.29280 Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein Autorzy: de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Sante Opublikowane w: Genet Med., Numer (10):2051-2064, 2022, ISSN 1098-3600 Wydawca: Lippincott Williams & Wilkins Ltd. DOI: 10.1016/j.gim.2022.06.007 SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. Autorzy: Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M Opublikowane w: American Journal of Human Genetics, 2021, ISSN 0002-9297 Wydawca: University of Chicago Press DOI: 10.1016/j.ajhg.2021.09.007 CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories Autorzy: Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri Elisa Paccagnella; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Marcello Scala, Ferruccio Romano, Valeria Capra, Vincenzo Nigro, Marcella Zollino Opublikowane w: European Journal of Human Genetics, Numer 31(6), 2023, Strona(/y) 648-653, ISSN 1018-4813 Wydawca: Natue Publishing Group DOI: 10.1038/s41431-023-01305-z A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents Autorzy: Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A. Opublikowane w: American Journal of Human Genetics, 2022, ISSN 0002-9297 Wydawca: University of Chicago Press DOI: 10.1002/ajmg.a.62494 Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome Autorzy: Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya Opublikowane w: Genetics in Medicine, 2021, ISSN 1098-3600 Wydawca: Lippincott Williams & Wilkins Ltd. DOI: 10.1038/s41436-021-01246-2 A complex structural variant near SOX3 causes X-linked split-hand/foot malformation Autorzy: de Boer E, Marcelis C, Neveling K, van Beusekom E, Hoischen A, Klein WM, de Leeuw N, Mantere T, Melo US, van Reeuwijk J, Smeets D, Spielmann M, Kleefstra T, van Bokhoven H, Vissers LELM Opublikowane w: HGG Adv., Numer 4(3):100200, 2023, ISSN 2666-2477 Wydawca: Cell Press Elsevier Inc. DOI: 10.1016/j.xhgg.2023.100200 Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Autorzy: Andrea Cortese, Yi Zhu, Adriana P. Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna M. E. Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A. Haridy, Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Opublikowane w: Nature Genetics, Numer 52/5, 2020, Strona(/y) 473-481, ISSN 1061-4036 Wydawca: Nature Publishing Group DOI: 10.1038/s41588-020-0615-4 The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing. Autorzy: Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C Opublikowane w: Cancers (Basel), 2021, ISSN 2072-6694 Wydawca: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/cancers13174464 Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Autorzy: Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Opublikowane w: Nat Genet, Numer 55(7):1149-1163, 2023, ISSN 1061-4036 Wydawca: Nature Publishing Group DOI: 10.1038/s41588-023-01424-9 The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 Autorzy: Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, V Opublikowane w: Transl Psychiatry., Numer 12(1):421, 2022, ISSN 2158-3188 Wydawca: Nature Publishing Group DOI: 10.1038/s41398-022-02189-1 Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) Autorzy: Ana Töpf; Angela Pyle; Helen Griffin; Leslie Matalonga; Katherine Schon; Katherine Schon; Solve-RD DITF-euroNMD; Albert Sickmann; Albert Sickmann; Albert Sickmann; Ulrike Schara-Schmidt; Andreas Hentschel; Patrick F. Chinnery; Patrick F. Chinnery; Heike Kölbel; Andreas Roos; Rita Horvath Opublikowane w: European Journal of Human Genetics, Numer 23, 2021, Strona(/y) 1348–1353, ISSN 1018-4813 Wydawca: Natue Publishing Group DOI: 10.1038/s41431-021-00851-8 A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Autorzy: Anne-Sophie Denommé-Pichon Leslie Matalonga Elke de Boer Adam Jackson Elisa Benetti Siddharth Banka Ange-Line Bruel Andrea Ciolfi Jill Clayton-Smith Bruno Dallapiccola Yannis Duffourd Kornelia Ellwanger Chiara Fallerini Christian Gilissen Holm Graessner Tobias B. Haack Marketa Havlovicova Alexander Hoischen Nolwenn Jean-Marçais Tjitske Kleefstra Estrella López-Martín Milan Macek, Jr Maria Anto Opublikowane w: Genetics in Medicine, Numer Vol. 25, Numer 4, 19 Jan 2023, 2023, Strona(/y) 15, ISSN 1098-3600 Wydawca: Lippincott Williams & Wilkins Ltd. DOI: 10.1016/j.gim.2023.100018 AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model Autorzy: Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak Opublikowane w: Acta Neuropathol., Numer 146(2), 2023, Strona(/y) 353-368, ISSN 0001-6322 Wydawca: Springer Verlag DOI: 10.1007/s00401-023-02579-9 Interpretable prioritization of splice variants in diagnostic next-generation sequencing Autorzy: Daniel Danis, Julius O.B. Jacobsen, Leigh C. Carmody, Michael A. Gargano, Julie A. McMurry, Ayushi Hegde, Melissa A. Haendel, Giorgio Valentini, Damian Smedley and Peter N. Robinson Opublikowane w: The American Journal of Human Genetics, Numer Volume 108, 2021, ISSN 0002-9297 Wydawca: University of Chicago Press DOI: 10.1016/j.ajhg.2021.06.014 The chaperone-assisted selective autophagy complex dynamics and dysfunctions Autorzy: Tedesco B, Vendredy L, Timmerman V, Poletti A Opublikowane w: Autophagy, Numer 19(6), 2023, Strona(/y) 1619-1641, ISSN 1554-8627 Wydawca: Landes Bioscience DOI: 10.1080/15548627.2022.2160564 FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research. Autorzy: van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA. Opublikowane w: Scientific Data, 2022, ISSN 2052-4463 Wydawca: Springer Nature DOI: 10.1038/s41597-022-01265-x Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives Autorzy: Matthis Synofzik, Willeke M.C van Roon-Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graessner, Rebecca Schüle, and Annemieke Aartsma-Rus Opublikowane w: Nucleic Acid Therapeutics, Numer 32(2), 2022, Strona(/y) 83–94, ISSN 2159-3337 Wydawca: Mary Ann Liebert Inc. DOI: 10.1089/nat.2021.0039 Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients Autorzy: Andreas Traschütz MD, PhD, Astrid D. Adarmes-Gómez MD, Mathieu Anheim MD, PhD, Jonathan Baets MD, PhD, Bernard Brais MD, PhD, Cynthia Gagnon PhD, Janina Gburek-Augustat MD, Sarah Doss MD, Haşmet A. Hanağası MD, Christoph Kamm MD, Peter Klivenyi MD, Thomas Klockgether MD, Thomas Klopstock MD, Martina Minnerop MD, Alexander Münchau MD, Mathilde Renaud MD, Filippo M. Santorelli MD, Ludger Schö Opublikowane w: Annals of Neurology, Numer Volume94, Numer3, 2023, Strona(/y) Pages 470-485, ISSN 0364-5134 Wydawca: John Wiley & Sons Inc. DOI: 10.1002/ana.26712 GA4GH Phenopackets: A Practical Introduction Autorzy: Markus S. Ladewig, 1 Julius O. B. Jacobsen, 2 Alex H. Wagner, 3 , 4 Daniel Danis, 5 Baha El Kassaby, 5 Michael Gargano, 5 Tudor Groza, 6 Michael Baudis, 7 Robin Steinhaus, 8 , 9 Dominik Seelow, 8 , 9 Nikolaos E. Bechrakis, 10 Christopher J. Mungall, 11 Paul N. Schofield, 12 , 13 Olivier Elemento, 14 Lindsay Smith, 15 , 16 Julie A. McMurry, 17 Monica Munoz‐Torres, 17 Melissa A. 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DOI: 10.1038/s41436-021-01218-6 Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity Autorzy: Andersson-Assarsson JC, van Deuren RC, Kristensson FM, Steehouwer M, Sjöholm K, Svensson PA, Pieterse M, Gilissen C, Taube M, Jacobson P, Perkins R, Brunner HG, Netea MG, Peltonen M, Carlsson B, Hoischen A, Carlsson LMS. 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DOI: 10.1002/mds.28959 Lipids in the Physiopathology of Hereditary Spastic Paraplegias Autorzy: Frédéric Darios, Fanny Mochel, Giovanni Stevanin Opublikowane w: Frontiers in Neuroscience, Numer 14, 2020, ISSN 1662-453X Wydawca: Frontiers DOI: 10.3389/fnins.2020.00074 Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging Autorzy: Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole Leeuw, Brigitte Faas, Thatjana Gardeitchik, Suzanne C. E. H. Sallevelt, Aimee Paulussen, Servi J. C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E. L. M. Vissers, Helger G. Ynt Opublikowane w: Prenatal Diagnosis, Numer 40/8, 2020, Strona(/y) 972-983, ISSN 0197-3851 Wydawca: John Wiley & Sons Inc. 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Opublikowane w: 2022 Wydawca: Elsevier DOI: 10.1053/j.gastro.2022.08.041 Germline mutations in WNK2 could be associated with serrated polyposis syndrome Autorzy: Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiel Opublikowane w: 2023 Wydawca: BMJ DOI: 10.1136/jmg-2022-108684 DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis Autorzy: Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici and Alessandra Ferlini Opublikowane w: Frontiers in Neurology, Numer Front. Neurol. 14:1288721, 2024 Wydawca: Frontiers DOI: 10.3389/fneur.2023.1288721 Mapping of resources for undiagnosed and newly diagnosed ultra-rare disease networks Autorzy: Gulcin Gumus, Stephanie Broley , Christine Patch , Marisol Montolio del Olmo, Kym Boycott, Laurence Faivre, Birte Zurek, Milan Macek, Holm Graessner, Simona Bellagambi, Daphne Stemkens, Cathalijne van Doorne, Alison Metcalfe, Alessia Costa, Glenn Robert, Lauren Roberts, Marie Pritchard, Hans Scheffer, Vanessa Boulanger, Janine Lewis, Helen Cederroth, Mikk Cederroth, Patricia Arias, Virginie Bros F Opublikowane w: European Society of Human Genetics Conference 2020, Numer P22.61.A, 2020 Wydawca: EURORDIS-Rare Diseases Europe Conference proceedings (1) Mapping of Resources from Networks for Undiagnosed and Newly Diagnosed Ultra-Rare Diseases Autorzy: Gulcin Gumus, Stephanie Broley , Christine Patch , Marisol Montolio del Olmo, Kym Boycott, Laurence Faivre, Birte Zurek, Milan Macek, Holm Graessner, Simona Bellagambi, Daphne Stemkens, Cathalijne van Doorne, Alison Metcalfe, Alessia Costa, Glenn Robert, Lauren Roberts, Marie Pritchard, Hans Scheffer, Vanessa Boulanger, Janine Lewis, Helen Cederroth, Mikk Cederroth, Patricia Arias, Virginie Bros F Opublikowane w: European Conference on Rare Diseases 2020, Numer P031, 2020 Wydawca: EURORDIS-Rare Diseases Europe Prawa własności intelektualnej Patent (1) BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES Numer wniosku/publikacji: 20 18077133 Data: 2018-10-05 Wnioskodawca/wnioskodawcy: UNIVERSITEIT ANTWERPEN Wyszukiwanie danych OpenAIRE... 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