Solving the unsolved Rare Diseases

CORDIS oferuje możliwość skorzystania z odnośników do publicznie dostępnych publikacji i rezultatów projektów realizowanych w ramach programów ramowych HORYZONT.

Odnośniki do rezultatów i publikacji związanych z poszczególnymi projektami 7PR, a także odnośniki do niektórych konkretnych kategorii wyników, takich jak zbiory danych i oprogramowanie, są dynamicznie pobierane z systemu OpenAIRE .

Rezultaty

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.

Guidelines for exome/genome re-analysis

Guidelines for exome/genome re-analysis provided by the Data Analyses Task Force.

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.

Publication on optimal pathway to obtain genetic diagnosis for new RD patients
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

1-day workshop for industry

1-day workshop for industry ensuring links with industry.

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.

Publication on strategy for cohort development in omics studies

Publication on strategy for cohort development in omics studies.

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

Unsolved cases from associated ERNs and undiagnosed disease programmes analysed through RD-Connect

Unsolved cases from associated ERNs and undiagnosed disease programmes analysed through RD-Connect.

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).

Diagnostic yield per RD per ERN for all omics used in WP2

Evaluate the effectiveness of omics technology at specific RD level (as selected by the ERNs in WP1) by means of diagnostic yield as primary outcome measure

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.

Brokerage service for 50 newly identified genes

Functional validation and identification of therapeutic leads via a novel and unique brokerage system. This is using the successful Canadian blueprint as the role model Solve-RD will establish a European Rare Diseases: Models & Mechanisms Network (Solve-RDMM) to catalyse connections between people discovering new genes in patients with rare diseases, and basic scientists, also from outside Solve-RD, who can analyse equivalent genes and pathways in model organisms.

Complete Solve-RD bioinformatics platform operational

Provide complete Solve-RD bioinformatics platform.

Publikacje

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

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Autorzy: Annette Lischka,1 Katja Eggermann,1 Christopher J. Record,2 Maike F. Dohrn,3,4 Petra Laššuthová,5 Florian Kraft,1 Matthias Begemann,1 Daniela Dey,1 Thomas Eggermann,1 Danique Beijer,4 Jana Šoukalová,6 Matilde Laura,2 Alexander M. Rossor,2 Radim Mazanec,7 Jonas Van Lent,8 Pedro J. Tomaselli,9 Martin Ungelenk,10 Karlien Y. Debus,11 Shawna M. E. Feely,12,13 Dieter Gläser,14 Sujatha Jagadeesh,15
Opublikowane w: BRAIN, 2023, Strona(/y) 2023: 146; 4880–4890, ISSN 0006-8950
Wydawca: Oxford University Press
DOI: 10.1093/brain/awad328

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

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

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

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

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias

Autorzy: Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
Opublikowane w: Trends in Neuroscience, 2024, ISSN 0166-2236
Wydawca: Elsevier BV
DOI: 10.1016/j.tins.2024.01.004

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. Haendel, 17 and Pe
Opublikowane w: Adv Genet (Hoboken), 2022, Strona(/y) 2200016, ISSN 2641-6573
Wydawca: Wiley Periodicals LLC
DOI: 10.1002/ggn2.202200016

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.
Opublikowane w: EBioMedicine, Numer 92:104621, 2023, ISSN 2352-3964
Wydawca: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104621

Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy

Autorzy: Daniela Pasquali, Annalaura Torella, Anna Grandone, Caterina Luongo, Manuela Morleo, Cristina Peduto, Rosa di Fraia, Lucia Digitale Selvaggio, Francesca Allosso, Giacomo Accardo, Maria Teresa Zanobio, Silvia Maitz, Milena Mariani, Angelo Selicorni, Sandro Banfi, Vincenzo Nigro; TUDP Study Group
Opublikowane w: American Journal of Medical Genetics, Numer 191(3), 2022, Strona(/y) 823-830, ISSN 1552-4833
Wydawca: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63061

Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective

Autorzy: Thomas Klockgether MD,Tetsuo Ashizawa MD,Bernard Brais MD,Rosalind Chuang MD,Alexandra Durr MD, PhD,Brent Fogel MD, PhD,Julie Greenfield,Sue Hagen,Laura Bannach Jardim MD,Hong Jiang MD,Osamu Onodera MD,José Luiz Pedroso MD,Bin-Weng Soong MD,David Szmulewicz MD,Holm Graessner,Matthis Synofzik MD, on behalf of Ataxia Global Initiative (AGI)
Opublikowane w: Movement Disorders Journal, Numer Volume 37, Numer 6, 2022, Strona(/y) p. 1125-1130, ISSN 0885-3185
Wydawca: John Wiley & Sons Inc.
DOI: 10.1002/mds.29032

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Autorzy: Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM.
Opublikowane w: Frontiers in Genetics, Numer Volume 14, 2023, ISSN 1664-8021
Wydawca: Frontiers Media
DOI: 10.3389/fgene.2023.1304520

The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

Autorzy: Enzo Cohen, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Opublikowane w: Neuromuscular Disorders, 2021, ISSN 0960-8966
Wydawca: Elsevier BV
DOI: 10.1016/j.nmd.2021.11.004

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Autorzy: van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM.
Opublikowane w: Eur J Hum Genet., Numer (1):81-88, 2023, ISSN 1018-4813
Wydawca: Natue Publishing Group
DOI: 10.1038/s41431-022-01185-9

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Autorzy: Pellerin D, Wilke C, Traschütz A, Nagy S, Currò R, Dicaire MJ, Garcia-Moreno H, Anheim M, Wirth T, Faber J, Timmann D, Depienne C, Rujescu D, Gazulla J, Reilly MM, Giunti P, Brais B, Houlden H, Schöls L, Strupp M, Cortese A, Synofzik M.
Opublikowane w: J Neurol Neurosurg Psychiatry, Numer 2023-331490, 2023, ISSN 0022-3050
Wydawca: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-331490

Towards a European health research and innovation cloud (HRIC)

Autorzy: F. M. Aarestrup, A. Albeyatti, W. J. Armitage, C. Auffray, L. Augello, R. Balling, N. Benhabiles, G. Bertolini, J. G. Bjaalie, M. Black, N. Blomberg, P. Bogaert, M. Bubak, B. Claerhout, L. Clarke, B. De Meulder, G. D’Errico, A. Di Meglio, N. Forgo, C. Gans-Combe, A. E. Gray, I. Gut, A. Gyllenberg, G. Hemmrich-Stanisak, L. Hjorth, Y. Ioannidis, S. Jarmalaite, A. Kel, F. Kherif, J. O. Korbel, C. L
Opublikowane w: Genome Medicine, Numer 12/1, 2020, ISSN 1756-994X
Wydawca: BioMed Central
DOI: 10.1186/s13073-020-0713-z

A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Autorzy: K. Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, Dennis Hendriksen, Cleo C. van Diemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema-Raddatz, Morris A. Swertz
Opublikowane w: Advanced Genetics, Numer 1/1, 2020, Strona(/y) e10023, ISSN 2641-6573
Wydawca: Wiley
DOI: 10.1002/ggn2.10023

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Autorzy: Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W. Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva-Gutierrez, David Mengel, Matthis Synofzik, Ludger Schols, Peter Martus & Rebecca Schule
Opublikowane w: Annals of Clinical and Translational Neurology, Numer 2022 March, 2022, Strona(/y) 326–338, ISSN 2328-9503
Wydawca: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

Autorzy: Danique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, Evgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, Ivan Ahel, Jonathan Baets
Opublikowane w: Life Sci Alliance, Numer 4(11), 2021, ISSN 2575-1077
Wydawca: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057

Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes–Considerations for Future Studies

Autorzy: Iris B. A. W. te Paske, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer
Opublikowane w: International Journal of Molecular Sciences, Numer 21/22, 2020, Strona(/y) 8757, ISSN 1422-0067
Wydawca: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Autorzy: Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J
Opublikowane w: Brain Pathology, Numer e13200, 2023, Strona(/y) e13200, ISSN 1015-6305
Wydawca: International Society of Neuropathology
DOI: 10.1111/bpa.13200

Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19

Autorzy: van der Made CI, Netea MG, van der Veerdonk FL, Hoischen A
Opublikowane w: Genome Med., Numer 14(1):96, 2022, ISSN 1756-994X
Wydawca: BioMed Central
DOI: 10.1186/s13073-022-01100-3

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Autorzy: Evgeniia Prokhorova, Thomas Agnew, Anne R Wondisford, Michael Tellier, Nicole Kaminski, Danique Beijer, James Holder, Josephine Groslambert, Marcin J Suskiewicz, Kang Zhu, Julia M Reber, Sarah C Krassnig, Luca Palazzo, Shona Murphy, Michael L Nielsen, Aswin Mangerich, Dragana Ahel, Jonathan Baets, Roderick J O'Sullivan, Ivan Ahel
Opublikowane w: Mol Cell, Numer 81(12), 2021, Strona(/y) 2640-2655, ISSN 1097-2765
Wydawca: Cell Press
DOI: 10.1016/j.molcel.2021.04.028

Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’

Autorzy: May Yung Tiet, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
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Lipids in the Physiopathology of Hereditary Spastic Paraplegias

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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

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Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

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Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

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Germline mutations in WNK2 could be associated with serrated polyposis syndrome

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Mapping of resources for undiagnosed and newly diagnosed ultra-rare disease networks

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Mapping of Resources from Networks for Undiagnosed and Newly Diagnosed Ultra-Rare Diseases

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BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Numer wniosku/publikacji: 20 18077133
Data: 2018-10-05
Wnioskodawca/wnioskodawcy: UNIVERSITEIT ANTWERPEN

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Numer wniosku/publikacji: 20 18077133
Data: 2018-10-05
Wnioskodawca/wnioskodawcy: UNIVERSITEIT ANTWERPEN

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