Solving the unsolved Rare Diseases

Risultati finali

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.

Pubblicazioni

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Autori: 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.
Pubblicato in: Genome Med., Numero 15(1):34, 2023, ISSN 1756-994X
Editore: BioMed Central
DOI: 10.1186/s13073-023-01183-6

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder

Autori: 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
Pubblicato in: Movement Disorders, Numero Volume 38, Numero 2, 2022, Pagina/e Pages 347-353, ISSN 0885-3185
Editore: 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

Autori: 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
Pubblicato in: Genet Med., Numero (10):2051-2064, 2022, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.06.007

Autori: 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
Pubblicato in: European Journal of Human Genetics, Numero 31(6), 2023, Pagina/e 648-653, ISSN 1018-4813
Editore: 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

Autori: Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A.
Pubblicato in: American Journal of Human Genetics, 2022, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1002/ajmg.a.62494

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Autori: 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
Pubblicato in: Genetics in Medicine, 2021, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01246-2

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Autori: 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
Pubblicato in: HGG Adv., Numero 4(3):100200, 2023, ISSN 2666-2477
Editore: 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.

Autori: 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
Pubblicato in: Cancers (Basel), 2021, ISSN 2072-6694
Editore: 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

Autori: 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,
Pubblicato in: Nat Genet, Numero 55(7):1149-1163, 2023, ISSN 1061-4036
Editore: 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

Autori: 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
Pubblicato in: Transl Psychiatry., Numero 12(1):421, 2022, ISSN 2158-3188
Editore: 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)

Autori: 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
Pubblicato in: European Journal of Human Genetics, Numero 23, 2021, Pagina/e 1348–1353, ISSN 1018-4813
Editore: 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

Autori: 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
Pubblicato in: Genetics in Medicine, Numero Vol. 25, Numero 4, 19 Jan 2023, 2023, Pagina/e 15, ISSN 1098-3600
Editore: 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

Autori: 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
Pubblicato in: Acta Neuropathol., Numero 146(2), 2023, Pagina/e 353-368, ISSN 0001-6322
Editore: Springer Verlag
DOI: 10.1007/s00401-023-02579-9

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Autori: 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
Pubblicato in: The American Journal of Human Genetics, Numero Volume 108, 2021, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

Autori: Tedesco B, Vendredy L, Timmerman V, Poletti A
Pubblicato in: Autophagy, Numero 19(6), 2023, Pagina/e 1619-1641, ISSN 1554-8627
Editore: 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

Autori: Matthis Synofzik, Willeke M.C van Roon-Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graessner, Rebecca Schüle, and Annemieke Aartsma-Rus
Pubblicato in: Nucleic Acid Therapeutics, Numero 32(2), 2022, Pagina/e 83–94, ISSN 2159-3337
Editore: 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

Autori: 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
Pubblicato in: Annals of Neurology, Numero Volume94, Numero3, 2023, Pagina/e Pages 470-485, ISSN 0364-5134
Editore: John Wiley & Sons Inc.
DOI: 10.1002/ana.26712

GA4GH Phenopackets: A Practical Introduction

Autori: 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
Pubblicato in: Adv Genet (Hoboken), 2022, Pagina/e 2200016, ISSN 2641-6573
Editore: 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

Autori: 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.
Pubblicato in: EBioMedicine, Numero 92:104621, 2023, ISSN 2352-3964
Editore: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104621

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

Autori: 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
Pubblicato in: American Journal of Medical Genetics, Numero 191(3), 2022, Pagina/e 823-830, ISSN 1552-4833
Editore: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63061

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

Autori: 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)
Pubblicato in: Movement Disorders Journal, Numero Volume 37, Numero 6, 2022, Pagina/e p. 1125-1130, ISSN 0885-3185
Editore: 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

Autori: 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.
Pubblicato in: Frontiers in Genetics, Numero Volume 14, 2023, ISSN 1664-8021
Editore: Frontiers Media
DOI: 10.3389/fgene.2023.1304520

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

Autori: Enzo Cohen, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Pubblicato in: Neuromuscular Disorders, 2021, ISSN 0960-8966
Editore: Elsevier BV
DOI: 10.1016/j.nmd.2021.11.004

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

Autori: 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.
Pubblicato in: Eur J Hum Genet., Numero (1):81-88, 2023, ISSN 1018-4813
Editore: 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

Autori: 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.
Pubblicato in: J Neurol Neurosurg Psychiatry, Numero 2023-331490, 2023, ISSN 0022-3050
Editore: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-331490

Towards a European health research and innovation cloud (HRIC)

Autori: 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
Pubblicato in: Genome Medicine, Numero 12/1, 2020, ISSN 1756-994X
Editore: 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

Autori: 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
Pubblicato in: Advanced Genetics, Numero 1/1, 2020, Pagina/e e10023, ISSN 2641-6573
Editore: Wiley
DOI: 10.1002/ggn2.10023

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

Autori: 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
Pubblicato in: Annals of Clinical and Translational Neurology, Numero 2022 March, 2022, Pagina/e 326–338, ISSN 2328-9503
Editore: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518

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

Autori: 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
Pubblicato in: Life Sci Alliance, Numero 4(11), 2021, ISSN 2575-1077
Editore: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057

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

Autori: Iris B. A. W. te Paske, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer
Pubblicato in: International Journal of Molecular Sciences, Numero 21/22, 2020, Pagina/e 8757, ISSN 1422-0067
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757

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

Autori: 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
Pubblicato in: Brain Pathology, Numero e13200, 2023, Pagina/e e13200, ISSN 1015-6305
Editore: International Society of Neuropathology
DOI: 10.1111/bpa.13200

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

Autori: van der Made CI, Netea MG, van der Veerdonk FL, Hoischen A
Pubblicato in: Genome Med., Numero 14(1):96, 2022, ISSN 1756-994X
Editore: BioMed Central
DOI: 10.1186/s13073-022-01100-3

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

Autori: 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
Pubblicato in: Mol Cell, Numero 81(12), 2021, Pagina/e 2640-2655, ISSN 1097-2765
Editore: Cell Press
DOI: 10.1016/j.molcel.2021.04.028

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

Autori: May Yung Tiet, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
Pubblicato in: Journal of Neuromuscular Diseases, 2021, ISSN 1877-7171
Editore: IOS Press
DOI: 10.3233/jnd-210715

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Autori: Eppie M Yiu, Paula Bray, Jonathan Baets, Steven K Baker, Nina Barisic, Katy de Valle, Timothy Estilow, Michelle A Farrar, Richard S Finkel, Jana Haberlová, Rachel A Kennedy, Isabella Moroni, Garth A Nicholson, Sindhu Ramchandren, Mary M Reilly, Kristy Rose, Michael E Shy, Carly E Siskind, Sabrina W Yum, Manoj P Menezes, Monique M Ryan, Joshua Burns
Pubblicato in: J Neurol Neurosurg Psychiatry, Numero 93(5), 2022, Pagina/e 530-538, ISSN 0022-3050
Editore: BMJ Publishing Group
DOI: 10.1136/jnnp-2021-328483

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

Autori: Jonathan De Winter , Danique Beijer, Willem De Ridder, Matthis Synofzik, Stephan L Zuchner, PREPARE consortium; Philip Van Damme, Werner Spileers, Jonathan Baets
Pubblicato in: Brain, Numero 144(2), 2021, ISSN 0006-8950
Editore: Oxford University Press
DOI: 10.1093/brain/awaa389

Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges.

Autori: Garcia-Pelaez J, Barbosa-Matos R, Gullo I, Carneiro F, Oliveira C
Pubblicato in: Mol Oncol, 2021, ISSN 1878-0261
Editore: Wiley
DOI: 10.1002/1878-0261.12948

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Autori: Gemma Bullich, Leslie Matalonga, Montserrat Pujadas, Anastasios Papakonstantinou, Davide Piscia, Raúl Tonda, Rafael Artuch, Pia Gallano, Glòria Garrabou, Juan R. González, Daniel Grinberg, Míriam Guitart, Steven Laurie, Conxi Lázaro, Cristina Luengo, Ramon Martí, Montserrat Milà, David Ovelleiro, Genís Parra, Aurora Pujol, Eduardo Tizzano, Alfons Macaya, Francesc Palau, Antònia Ribes, Lui
Pubblicato in: The Journal of Molecular Diagnostics, Numero 24, 2022, Pagina/e 529-542, ISSN 1525-1578
Editore: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2022.02.003

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation

Autori: Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, Giancarlo Blasio, Annalaura Torella, Andrea Melluso, Giovanna Capolongo, Rosa Maria Pollastro, Giulio Piluso, Valentina Di Iorio, Francesca Simonelli, Davide Viggiano, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso
Pubblicato in: Journal of Nephrology, 2021, Pagina/e 1855–1874, ISSN 1724-6059
Editore: Springer Nature
DOI: 10.1007/s40620-021-01048-4

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

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Autori: Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan
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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

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Autori: Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C. Carmody, Sophie Collardeau-Frachon, Esther A. Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G. Iliescu, Markus S. Ladewig, Moni
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Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

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Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.

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The Human Phenotype Ontology in 2021

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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Autori: Robin Wijngaard, German Demidov, Luke O’Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E. L. M. Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B. A. W. te Paske, Richarda M. de Voer, Laurence Faivre, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Töpf, Anneke J. van der
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Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Autori: Maria Elena Onore,Annalaura Torella,Francesco Musacchia,Paola D’Ambrosio,Mariateresa Zanobio, Francesca Del Vecchio Blanco,Giulio Piluso, Vincenzo Nigro
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Autori: Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S. Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Eva Trochu, Virginie Vignard, Fatima El It, Lance H. Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis D
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As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Autori: Holger Hengel MD, David Pellerin MD, Carlo Wilke MD, Zofia Fleszar MD, Bernard Brais MD, PhD, Tobias Haack MD, Andreas Traschütz MD, PhD, Ludger Schöls MD, Matthis Synofzik MD
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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Autori: Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley & Peter N. Robinson
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Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Autori: Jonas Van Lent, Peter Verstraelen, Bob Asselbergh, Elias Adriaenssens, Ligia Mateiu, Christophe Verbist, Vicky De Winter, Kristel Eggermont, Ludo Van Den Bosch, Winnok H De Vos, Vincent Timmerman
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Autori: Töpf, Ana Cox, Dan Zaharieva, Irina T Di Leo, Valeria Sarparanta, Jaakko Jonson, Per Harald Sealy, Ian M Smolnikov, Andrei White, Richard J Vihola, Anna Savarese, Marco Merteroglu, Munise Wali, Neha Laricchia, Kristen M Venturini, Cristina Vroling, Bas Stenton, Sarah L Cummings, Beryl B Harris, Elizabeth Marini-Bettolo, Chiara Diaz-Manera, Jordi Henderson, Matt Barresi, Rita Duff, Jennifer Englan
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Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Autori: Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint.

Autori: Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND; Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium.
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Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Autori: Danique Beijer, Brent L. Fogel, Sergi Beltran, Matt C. Danzi, Andrea H. Németh, Stephan Züchner, Matthis Synofzik & AGI Ataxia NGS genomics, platforms Working Group
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Autori: Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM.
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Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Autori: Alessia Costa, Věra Franková, Glenn Robert, Milan Macek, Christine Patch, Elizabeth Alexander, Anna Arellanesova, Jill Clayton-Smith, Amy Hunter, Markéta Havlovicová, Radka Pourová, Marie Pritchard, Lauren Roberts, Veronika Zoubková, Alison Metcalfe
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Autori: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Autori: Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman
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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Autori: Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartagli
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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

Autori: Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca
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Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Autori: Andre Altmann, David M Cash, Martina Bocchetta, Carolin Heller, Regina Reynolds, Katrina Moore, Rhian S Convery, David L Thomas, John C van Swieten, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tag
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

Autori: Iruzubieta, Pablo Damborenea, Alberto Ioghen, Mihaela Bajew, Simon Fernandez-Torrón, Roberto Töpf, Ana Herrero-Reiriz, Álvaro Epure, Diana Vill, Katharina Hernández-Laín, Aurelio Manterola, María Azkargorta, Mikel Pikatza-Menoio, Oihane Pérez-Fernandez, Laura García-Puga, Mikel Gaina, Gisela Bastian, Alexandra Streata, Ioana Walter, Maggie C Müller-Felber, Wolfgang Thiele, Simone Moragón
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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Wnt genes in colonic polyposis predisposition

Autori: Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L.
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Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant

Autori: Arianna De Laurentiis; Claudia Ciaccio; Alessandra Erbetta; Michele Pinelli; Vincenzo Nigro; Chiara Pantaleoni; Stefano D'Arrigo
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Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Autori: Maria Elena Onore; Marco Savarese; Esther Picillo; Luigia Passamano; Vincenzo Nigro; Luisa Politano
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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

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"How to proceed after ""negative"" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques."

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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

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Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

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The European Genome-phenome Archive in 2021

Autori: Mallory Ann Freeberg, Lauren A Fromont, Teresa D’Altri, Anna Foix Romero, Jorge Izquierdo Ciges, Aina Jene, Giselle Kerry, Mauricio Moldes, Roberto Ariosa, Silvia Bahena, Daniel Barrowdale, Marcos Casado Barbero, Dietmar Fernandez-Orth, Carles Garcia-Linares, Emilio Garcia-Rios, Frédéric Haziza, Bela Juhasz, Oscar Martinez Llobet, Gemma Milla, Anand Mohan, Manuel Rueda, Aravind Sankar, Dona Sh
Pubblicato in: Nucleic Acids Research, Numero 50/D1, 2021, Pagina/e D980–D987, ISSN 0305-1048
Editore: Oxford University Press
DOI: 10.1093/nar/gkab1059

Improved ontology-based similarity calculations using a study-wise annotation model

Autori: Sebastian Köhler
Pubblicato in: Database, Numero 2018/1, 2018, ISSN 1758-0463
Editore: Oxford University Press
DOI: 10.1093/database/bay026

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Autori: Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Pubblicato in: Human Molecular Genetics, Numero 28/4, 2018, Pagina/e 615-627, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddy352

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Autori: Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick M
Pubblicato in: Nature Communications, Numero 10/1, 2019, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-07953-w

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development

Autori: Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Pubblicato in: Journal of Neurology, Neurosurgery & Psychiatry, Numero 90/1, 2018, Pagina/e 58-67, ISSN 0022-3050
Editore: BMJ Publishing Group
DOI: 10.1136/jnnp-2018-318834

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Autori: Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz-Wagenblatt, Vincent Timmerman, Nathalie Bonello-Palot, Beate Schlotter-Weigel, Michaela Auer-Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeiste
Pubblicato in: Immunity, Numero 50/5, 2019, Pagina/e 1218-1231.e5, ISSN 1074-7613
Editore: Cell Press
DOI: 10.1016/j.immuni.2019.03.005

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Autori: Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S. R. Wayne Chen, Ludger Schöls, Rebecca Schüle
Pubblicato in: European Journal of Human Genetics, Numero 26/11, 2018, Pagina/e 1623-1634, ISSN 1018-4813
Editore: Natue Publishing Group
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Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Autori: Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Pubblicato in: Autophagy, Numero 15/6, 2019, Pagina/e 1051-1068, ISSN 1554-8627
Editore: Landes Bioscience
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Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Autori: Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Pubblicato in: Emerging Topics in Life Sciences, Numero 3/1, 2019, Pagina/e 19-37, ISSN 2397-8554
Editore: Portland Press
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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Autori: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Pubblicato in: Orphanet Journal of Rare Diseases, Numero 13/1, 2018, ISSN 1750-1172
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Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

Autori: Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Pubblicato in: Expert Review of Neurotherapeutics, Numero 19/5, 2019, Pagina/e 409-415, ISSN 1473-7175
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Autori: Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstoc
Pubblicato in: Neurology, Numero 92/23, 2019, Pagina/e e2679-e2690, ISSN 0028-3878
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Update on the Genetics of Spastic Paraplegias

Autori: Maxime Boutry, Sara Morais, Giovanni Stevanin
Pubblicato in: Current Neurology and Neuroscience Reports, Numero 19/4, 2019, ISSN 1528-4042
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Autori: Mohammad Ali Farazi Fard, Adriana P. Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez-Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole B. Martuscelli, Dana M. Bis-Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra
Pubblicato in: The American Journal of Human Genetics, Numero 104/4, 2019, Pagina/e 767-773, ISSN 0002-9297
Editore: University of Chicago Press
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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Autori: María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Pubblicato in: Orphanet Journal of Rare Diseases, Numero 14/1, 2019, ISSN 1750-1172
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Autori: Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergers
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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Autori: Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller
Pubblicato in: Human Mutation, 2019, ISSN 1059-7794
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Phenotero: Annotate as you write

Autori: Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Pubblicato in: Clinical Genetics, Numero 95/2, 2019, Pagina/e 287-292, ISSN 0009-9163
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RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Autori: Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
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Long-Read Sequencing Emerging in Medical Genetics

Autori: Tuomo Mantere, Simone Kersten, Alexander Hoischen
Pubblicato in: Frontiers in Genetics, Numero 10, 2019, ISSN 1664-8021
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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Autori: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi
Pubblicato in: Genome Medicine, Numero 11/1, 2019, ISSN 1756-994X
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Somatic mutational signatures in polyposis and colorectal cancer

Autori: Judith E. Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M. de Voer
Pubblicato in: Molecular Aspects of Medicine, 2019, ISSN 0098-2997
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Small heat shock proteins in neurodegenerative diseases.

Autori: Vendredy, Leen; Adriaenssens, Elias; Timmerman, Vincent
Pubblicato in: Cell stress and chaperones, Numero 6, 2020, ISSN 1466-1268
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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Autori: Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A
Pubblicato in: Autophagy, Numero 19(8), 2023, Pagina/e 2217-2239, ISSN 1554-8627
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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Autori: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Pubblicato in: BMC Medical Genetics, Numero 20/1, 2019, ISSN 1471-2350
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Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

Autori: Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schö
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High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients

Autori: Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets
Pubblicato in: Neuromuscul Disord, Numero 31(11), 2021, Pagina/e 1154-1160, ISSN 0960-8966
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Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Autori: Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter Jonghe, Willem Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjami
Pubblicato in: Annals of Neurology, Numero 88/2, 2020, Pagina/e 251-263, ISSN 0364-5134
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Autori: Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath
Pubblicato in: Brain, 2022, ISSN 0006-8950
Editore: Oxford University Press
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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Autori: Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B. Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bja
Pubblicato in: Acta Neuropathologica, 2021, Pagina/e 375–393, ISSN 1432-0533
Editore: Springer Nature
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Autori: Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Pa
Pubblicato in: The American Journal of Human Genetics, Numero 107/1, 2020, Pagina/e 164-172, ISSN 0002-9297
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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Autori: Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F
Pubblicato in: Hum Mutat, 2022, ISSN 1098-1004
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Genome sequencing as a generic diagnostic strategy for rare disease

Autori: Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM.
Pubblicato in: Genome Medicine, Numero Volume 16, Numero 1, 2024, ISSN 1756-994X
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Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Autori: Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC.
Pubblicato in: Developmental Medicine & Child Neurology, 2021, ISSN 0012-1622
Editore: Mac Keith Press
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Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Autori: Andreas Traschütz MD, PhD, Astrid D. Adarmes-Gomez MD, Mathieu Anheim MD, PhD, Jonathan Baets MD, PhD, Björn H. Falkenburger MD, Janina Gburek-Augustat MD, Sarah Doss MD, Christoph Kamm MD, Peter Klivenyi MD, Marcus Grobe-Einsler MD, Thomas Klopstock MD, Martina Minnerop MD, Alexander Münchau MD, Chiara Pane MD, Mathilde Renaud MD, Filippo M. Santorelli MD, Ludger Schöls MD, Dagmar Timmann MD,
Pubblicato in: Movement Disorders, Numero Volume 38, Numero 6, 2023, Pagina/e Pages 1109-1112, ISSN 0885-3185
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Autori: Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Leslie Matalonga, Uluc Yis, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pinar Pulat Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O'Heir, Alysia K Lovgren, Broad Center for Mendelian Geno
Pubblicato in: Brain, Numero 145, 2022, Pagina/e 1507–1518, ISSN 0006-8950
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BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Autori: Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
Pubblicato in: Scientific Reports, Numero 10/1, 2020, ISSN 2045-2322
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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Autori: Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Nadja Lucas, Florian Harmuth, Jennifer Reichbauer, Ingeborg Krägeloh-Mann, Rebecca Schüle, Min Ae Lee-Kirsch
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Autori: Andreas Traschütz, MD, PhD, Andrea Cortese, MD, PhD, Selina Reich, MSc, Natalia Dominik, MSc, Jennifer Faber, MD, Heike Jacobi, MD, Annette M. Hartmann, PhD, Dan Rujescu, MD, Solveig Montaut, MD, Andoni Echaniz-Laguna, MD, Sevda Erer, MD, Valerie Cornelia Schütz, MD, Alexander A. Tarnutzer, MD, Marc Sturm, PhD, Tobias B. Haack, MD, Nadège Vaucamps-Diedhiou, MSc, Helene Puccio, PhD, Ludger Schö
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Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Autori: Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
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Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Autori: Frédéric Darios, Giovanni Stevanin
Pubblicato in: Journal of Molecular Biology, Numero 432/8, 2020, Pagina/e 2714-2734, ISSN 0022-2836
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Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Autori: Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T, Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J, Timmerman V
Pubblicato in: Brain, Numero 146(7), 2023, Pagina/e 2885-2896, ISSN 0006-8950
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Autori: Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G.
Pubblicato in: BRAIN, 2022, Pagina/e 145(3):1029-1037, ISSN 0006-8950
Editore: Oxford University Press
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Long-read trio sequencing of individuals with unsolved intellectual disability

Autori: Marc Pauper, Erdi Kucuk, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel R. Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E. L. M. Vissers, Christian Gilissen
Pubblicato in: European Journal of Human Genetics, 2020, ISSN 1018-4813
Editore: Natue Publishing Group
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Autori: David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Davide Piscia, Ida Paramonov, Kornelia Ellwanger, Sebastian Köhler, Peter Robinson, Holm Graessner, Sergi Beltran, Caterina Lucano, Marc Hanauer & Ana Rath
Pubblicato in: European journal of Human Genetics, Numero 32, 23 November 2023, 2023, Pagina/e 182–189, ISSN 1018-4813
Editore: Natue Publishing Group
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Remote visualization of large scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Autori: Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Pubblicato in: Cell Genomics, Numero 2/8/2023, 2023, ISSN 2666-979X
Editore: Cell Press
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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Autori: Steven Laurie,Davide Piscia,Leslie Matalonga,Alberto Corvó,Marcos Fernández-Callejo,Carles Garcia-Linares,Carles Hernandez-Ferrer,Cristina Luengo,Inés Martínez,Anastasios Papakonstantinou,Daniel Picó-Amador,Joan Protasio,Rachel Thompson,Raul Tonda,Mònica Bayés,Gemma Bullich,Jordi Camps-Puchadas,Ida Paramonov,Jean-Rémi Trotta,Angel Alonso,Marcella Attimonelli,Christophe Béroud,Virginie Bro
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Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Autori: Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

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RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

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Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes

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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Autori: Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L. Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria L. Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melz
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The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

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The GA4GH Phenopacket schema defines a computable representation of clinical data

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Defects in Axonal Transport in Inherited Neuropathies.

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Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

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DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

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Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

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Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

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Distinct features in adult polyglucosan body disease: a case series

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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

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Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

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Lipids in the Physiopathology of Hereditary Spastic Paraplegias

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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

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Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

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

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Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.

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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

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

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The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

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The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

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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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DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis

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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

Autori: 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
Pubblicato in: European Conference on Rare Diseases 2020, Numero P031, 2020
Editore: EURORDIS-Rare Diseases Europe

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