Solving the unsolved Rare Diseases

CORDIS fournit des liens vers les livrables publics et les publications des projets HORIZON.

Les liens vers les livrables et les publications des projets du 7e PC, ainsi que les liens vers certains types de résultats spécifiques tels que les jeux de données et les logiciels, sont récupérés dynamiquement sur OpenAIRE .

Livrables

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.

Publications

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Auteurs: 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.
Publié dans: Genome Med., Numéro 15(1):34, 2023, ISSN 1756-994X
Éditeur: BioMed Central
DOI: 10.1186/s13073-023-01183-6

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

Auteurs: 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
Publié dans: Movement Disorders, Numéro Volume 38, Numéro 2, 2022, Page(s) Pages 347-353, ISSN 0885-3185
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/mds.29280

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

Auteurs: 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
Publié dans: BRAIN, 2023, Page(s) 2023: 146; 4880–4890, ISSN 0006-8950
Éditeur: 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

Auteurs: 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
Publié dans: Genet Med., Numéro (10):2051-2064, 2022, ISSN 1098-3600
Éditeur: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.06.007

Auteurs: 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
Publié dans: European Journal of Human Genetics, Numéro 31(6), 2023, Page(s) 648-653, ISSN 1018-4813
Éditeur: 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

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

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

Auteurs: 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
Publié dans: Genetics in Medicine, 2021, ISSN 1098-3600
Éditeur: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01246-2

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

Auteurs: 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
Publié dans: HGG Adv., Numéro 4(3):100200, 2023, ISSN 2666-2477
Éditeur: 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.

Auteurs: 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
Publié dans: Cancers (Basel), 2021, ISSN 2072-6694
Éditeur: 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

Auteurs: 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,
Publié dans: Nat Genet, Numéro 55(7):1149-1163, 2023, ISSN 1061-4036
Éditeur: 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

Auteurs: 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
Publié dans: Transl Psychiatry., Numéro 12(1):421, 2022, ISSN 2158-3188
Éditeur: 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)

Auteurs: 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
Publié dans: European Journal of Human Genetics, Numéro 23, 2021, Page(s) 1348–1353, ISSN 1018-4813
Éditeur: 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

Auteurs: 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
Publié dans: Genetics in Medicine, Numéro Vol. 25, Numéro 4, 19 Jan 2023, 2023, Page(s) 15, ISSN 1098-3600
Éditeur: 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

Auteurs: 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
Publié dans: Acta Neuropathol., Numéro 146(2), 2023, Page(s) 353-368, ISSN 0001-6322
Éditeur: Springer Verlag
DOI: 10.1007/s00401-023-02579-9

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro Volume 108, 2021, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

Auteurs: Tedesco B, Vendredy L, Timmerman V, Poletti A
Publié dans: Autophagy, Numéro 19(6), 2023, Page(s) 1619-1641, ISSN 1554-8627
Éditeur: 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

Auteurs: Matthis Synofzik, Willeke M.C van Roon-Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graessner, Rebecca Schüle, and Annemieke Aartsma-Rus
Publié dans: Nucleic Acid Therapeutics, Numéro 32(2), 2022, Page(s) 83–94, ISSN 2159-3337
Éditeur: Mary Ann Liebert Inc.
DOI: 10.1089/nat.2021.0039

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

Auteurs: Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
Publié dans: Trends in Neuroscience, 2024, ISSN 0166-2236
Éditeur: 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

Auteurs: 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
Publié dans: Annals of Neurology, Numéro Volume94, Numéro3, 2023, Page(s) Pages 470-485, ISSN 0364-5134
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/ana.26712

GA4GH Phenopackets: A Practical Introduction

Auteurs: 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
Publié dans: Adv Genet (Hoboken), 2022, Page(s) 2200016, ISSN 2641-6573
Éditeur: 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

Auteurs: 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.
Publié dans: EBioMedicine, Numéro 92:104621, 2023, ISSN 2352-3964
Éditeur: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104621

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

Auteurs: 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
Publié dans: American Journal of Medical Genetics, Numéro 191(3), 2022, Page(s) 823-830, ISSN 1552-4833
Éditeur: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63061

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

Auteurs: 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)
Publié dans: Movement Disorders Journal, Numéro Volume 37, Numéro 6, 2022, Page(s) p. 1125-1130, ISSN 0885-3185
Éditeur: 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

Auteurs: 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.
Publié dans: Frontiers in Genetics, Numéro Volume 14, 2023, ISSN 1664-8021
Éditeur: Frontiers Media
DOI: 10.3389/fgene.2023.1304520

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

Auteurs: Enzo Cohen, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Publié dans: Neuromuscular Disorders, 2021, ISSN 0960-8966
Éditeur: Elsevier BV
DOI: 10.1016/j.nmd.2021.11.004

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

Auteurs: 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.
Publié dans: Eur J Hum Genet., Numéro (1):81-88, 2023, ISSN 1018-4813
Éditeur: 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

Auteurs: 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.
Publié dans: J Neurol Neurosurg Psychiatry, Numéro 2023-331490, 2023, ISSN 0022-3050
Éditeur: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-331490

Towards a European health research and innovation cloud (HRIC)

Auteurs: 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
Publié dans: Genome Medicine, Numéro 12/1, 2020, ISSN 1756-994X
Éditeur: 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

Auteurs: 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
Publié dans: Advanced Genetics, Numéro 1/1, 2020, Page(s) e10023, ISSN 2641-6573
Éditeur: Wiley
DOI: 10.1002/ggn2.10023

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

Auteurs: 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
Publié dans: Annals of Clinical and Translational Neurology, Numéro 2022 March, 2022, Page(s) 326–338, ISSN 2328-9503
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518

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

Auteurs: 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
Publié dans: Life Sci Alliance, Numéro 4(11), 2021, ISSN 2575-1077
Éditeur: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057

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

Auteurs: Iris B. A. W. te Paske, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer
Publié dans: International Journal of Molecular Sciences, Numéro 21/22, 2020, Page(s) 8757, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757

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

Auteurs: 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
Publié dans: Brain Pathology, Numéro e13200, 2023, Page(s) e13200, ISSN 1015-6305
Éditeur: International Society of Neuropathology
DOI: 10.1111/bpa.13200

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

Auteurs: van der Made CI, Netea MG, van der Veerdonk FL, Hoischen A
Publié dans: Genome Med., Numéro 14(1):96, 2022, ISSN 1756-994X
Éditeur: BioMed Central
DOI: 10.1186/s13073-022-01100-3

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

Auteurs: 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
Publié dans: Mol Cell, Numéro 81(12), 2021, Page(s) 2640-2655, ISSN 1097-2765
Éditeur: Cell Press
DOI: 10.1016/j.molcel.2021.04.028

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

Auteurs: May Yung Tiet, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
Publié dans: Journal of Neuromuscular Diseases, 2021, ISSN 1877-7171
Éditeur: IOS Press
DOI: 10.3233/jnd-210715

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

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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.

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

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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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The Treatabolome, an emerging concept

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A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

Auteurs: Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke H.M. Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, Amir L. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M. Seyger, Frank L. van de Veerdonk, Mihai
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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Auteurs: Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A High, Jiahai Shi; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper van der Sma
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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

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A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

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Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrom

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

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Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

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Auteurs: Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM.
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The Human Phenotype Ontology in 2021

Auteurs: Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Nicole A Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M Brower, Tiffany J Callahan, Christopher G Chute, Johanna L Est, Peter D Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Julia Pazmandi, Marc Hanauer, Nomi L Harris, Michael J Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongq
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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Auteurs: 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

Auteurs: Maria Elena Onore,Annalaura Torella,Francesco Musacchia,Paola D’Ambrosio,Mariateresa Zanobio, Francesca Del Vecchio Blanco,Giulio Piluso, Vincenzo Nigro
Publié dans: Genes, 2021, ISSN 2073-4425
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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

Auteurs: 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

Auteurs: 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
Publié dans: Movement Disorders, Numéro Volume 38, Numéro 8, 2023, Page(s) 1557-1558, ISSN 0885-3185
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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Auteurs: 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
Publié dans: Genome Medicine, 2022, ISSN 1756-994X
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Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Auteurs: 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

Auteurs: 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
Publié dans: Nature genetics, Numéro Volume 56, Numéro 3, 2024, Page(s) 395-4, ISSN 1061-4036
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Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Auteurs: 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
Publié dans: Neurology Genetics, 2021, Page(s) e619, ISSN 2376-7839
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint.

Auteurs: 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.
Publié dans: Eur J Hum Genet, Numéro 29, 2021, Page(s) 1332–1336, ISSN 1018-4813
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Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD

Auteurs: Sommer AK, Te Paske IBAW, Garcia-Pelaez J, Laner A, Holinski-Feder E, Steinke-Lange V, Peters S, Valle L, Spier I, Huntsman D; Solve-RD-GENTURIS group, Oliveira C, de Voer RM, Hoogerbrugge N, Aretz S
Publié dans: Eur J Med Genet, 2022, ISSN 1769-7212
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Auteurs: Geeske M. van Woerden; Melanie Bos; Charlotte de Konink; Ben Distel; Ben Distel; Rossella Avagliano Trezza; Natasha Shur; Kristin W. Barañano; Sonal Mahida; Anna Chassevent; Allison Schreiber; Angelika Erwin; Karen W. Gripp; Fatima Rehman; Saskia Brulleman; Róisín McCormack; Gwynna de Geus; Louisa Kalsner; Arthur Sorlin; Ange Line Bruel; David A. Koolen; Melissa K. Gabriel; Mari Rossi; David R.
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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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Publié dans: European Journal of Pediatrics, Numéro Volume 183, Numéro 1, 2024, Page(s) 345-355, ISSN 1432-1076
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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Auteurs: Danique Beijer, Brent L. Fogel, Sergi Beltran, Matt C. Danzi, Andrea H. Németh, Stephan Züchner, Matthis Synofzik & AGI Ataxia NGS genomics, platforms Working Group
Publié dans: The Cerebellum, Numéro 3/4/2023, 2023, ISSN 1473-4230
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Auteurs: 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.
Publié dans: European Journal of Human Genetics, 2022, ISSN 1018-4813
Éditeur: Natue Publishing Group
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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

Auteurs: 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
Publié dans: Journal of Community Genetics, 2022, ISSN 1868-310X
Éditeur: Springer Verlag
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Auteurs: 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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Éditeur: BioMed Central
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Auteurs: 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
Publié dans: Genetics in Medicine, 2021, ISSN 1098-3600
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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Auteurs: 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
Publié dans: European Journal of Human Genetics, 2020, Page(s) 1602–1614, ISSN 1476-5438
Éditeur: Springer Nature
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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Auteurs: Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium, Elpeleg O, Taylor JC, Banka S, Ta-Shma A.
Publié dans: Clinical Genetics, 2021, ISSN 1399-0004
Éditeur: John Wiley & Sons Ltd
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Auteurs: Hebert A, Simons A, Schuurs-Hoeijmakers JHM, Koenen HJPM, Zonneveld-Huijssoon E, Henriet SSV, Schatorjé EJH, Hoppenreijs EPAH, Leenders EKSM, Janssen EJM, Santen GWE, de Munnik SA, van Reijmersdal SV, van Rijssen E, Kersten S, Netea MG, Smeets RL, van de Veerdonk FL, Hoischen A, van der Made CI.
Publié dans: Elife, Numéro 11:e78469, 2022, ISSN 2050-084X
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Auteurs: Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, C
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Éditeur: University of Chicago Press
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Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

Auteurs: Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca
Publié dans: Neurology, Numéro 97(23), 2021, ISSN 0028-3878
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Titin copy number variations associated with dominant inherited phenotypes

Auteurs: Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou , German Demidov , Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charl
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Éditeur: British Medical Association
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Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Auteurs: 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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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Auteurs: den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY,
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Éditeur: University of Chicago Press

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

Auteurs: Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk
Publié dans: American Journal of Human Genetics, 2021, ISSN 0002-9297
Éditeur: University of Chicago Press
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Wnt genes in colonic polyposis predisposition

Auteurs: 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.
Publié dans: Genes & Diseases, 2022, ISSN 2352-4820
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Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant

Auteurs: Arianna De Laurentiis; Claudia Ciaccio; Alessandra Erbetta; Michele Pinelli; Vincenzo Nigro; Chiara Pantaleoni; Stefano D'Arrigo
Publié dans: American Journal of Medical Genetics, 2023, ISSN 1552-4833
Éditeur: John Wiley & Sons, Inc.
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Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Auteurs: Maria Elena Onore; Marco Savarese; Esther Picillo; Luigia Passamano; Vincenzo Nigro; Luisa Politano
Publié dans: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Auteurs: Steyaert W, Haer-Wigman L, Pfundt R, Hellebrekers D, Steehouwer M, Hampstead J, de Boer E, Stegmann A, Yntema H, Kamsteeg EJ, Brunner H, Hoischen A, Gilissen C.
Publié dans: Nature Communications, Numéro Volume 14, Numéro 2, 2023, Page(s) 6845, ISSN 2041-1723
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Auteurs: Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia
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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Auteurs: Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler
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"How to proceed after ""negative"" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques."

Auteurs: Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM.
Publié dans: Journal of Inherited Metabolic Disease, 2022, ISSN 0141-8955
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Auteurs: Antonio Atalaia , Rabah Ben Yaou, Karim Wahbi, Annachiara De Sandre-Giovannoli, Corinne Vigouroux, Gisèle Bonne
Publié dans: Journal of Neuromuscular Diseases, 2021, Page(s) 337-339, ISSN 1877-7171
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Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

Auteurs: Adam Jackson, Celia Moss, Kate E Chandler, Pablo Lopez Balboa, Maria L Bageta, Gabriela Petrof, Anna E Martinez, Lu Liu, Alyson Guy, Jemima E Mellerio, John Y W Lee, Malobi Ogboli, Gavin Ryan; Genomics England Research Consortium; John A McGrath, Siddharth Banka
Publié dans: British Journal of Dermatology, 2022, ISSN 0007-0963
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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

Auteurs: Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Publié dans: Neuron, Numéro 101/4, 2019, Page(s) 560-583, ISSN 0896-6273
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The European Genome-phenome Archive in 2021

Auteurs: 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
Publié dans: Nucleic Acids Research, Numéro 50/D1, 2021, Page(s) D980–D987, ISSN 0305-1048
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Improved ontology-based similarity calculations using a study-wise annotation model

Auteurs: Sebastian Köhler
Publié dans: Database, Numéro 2018/1, 2018, ISSN 1758-0463
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Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Auteurs: Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Publié dans: Human Molecular Genetics, Numéro 28/4, 2018, Page(s) 615-627, ISSN 0964-6906
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

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

Auteurs: Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Publié dans: Journal of Neurology, Neurosurgery & Psychiatry, Numéro 90/1, 2018, Page(s) 58-67, ISSN 0022-3050
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Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Auteurs: 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
Publié dans: Immunity, Numéro 50/5, 2019, Page(s) 1218-1231.e5, ISSN 1074-7613
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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Auteurs: 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
Publié dans: European Journal of Human Genetics, Numéro 26/11, 2018, Page(s) 1623-1634, ISSN 1018-4813
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Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Auteurs: Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Publié dans: Autophagy, Numéro 15/6, 2019, Page(s) 1051-1068, ISSN 1554-8627
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Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Auteurs: Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Publié dans: Emerging Topics in Life Sciences, Numéro 3/1, 2019, Page(s) 19-37, ISSN 2397-8554
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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Auteurs: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Publié dans: Orphanet Journal of Rare Diseases, Numéro 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

Auteurs: Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Publié dans: Expert Review of Neurotherapeutics, Numéro 19/5, 2019, Page(s) 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

Auteurs: 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
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Update on the Genetics of Spastic Paraplegias

Auteurs: Maxime Boutry, Sara Morais, Giovanni Stevanin
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Auteurs: 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
Publié dans: The American Journal of Human Genetics, Numéro 104/4, 2019, Page(s) 767-773, ISSN 0002-9297
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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Auteurs: María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Auteurs: 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

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

Auteurs: Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Publié dans: Clinical Genetics, Numéro 95/2, 2019, Page(s) 287-292, ISSN 0009-9163
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RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Auteurs: Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
Publié dans: Nucleic Acids Research, Numéro 47/W1, 2019, Page(s) W106-W113, ISSN 0305-1048
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Long-Read Sequencing Emerging in Medical Genetics

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

Auteurs: 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
Publié dans: Genome Medicine, Numéro 11/1, 2019, ISSN 1756-994X
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Somatic mutational signatures in polyposis and colorectal cancer

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

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

Auteurs: 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
Publié dans: Autophagy, Numéro 19(8), 2023, Page(s) 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

Auteurs: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Publié dans: BMC Medical Genetics, Numéro 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

Auteurs: 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

Auteurs: Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets
Publié dans: Neuromuscul Disord, Numéro 31(11), 2021, Page(s) 1154-1160, ISSN 0960-8966
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Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Auteurs: 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
Publié dans: Annals of Neurology, Numéro 88/2, 2020, Page(s) 251-263, ISSN 0364-5134
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Auteurs: 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
Publié dans: Brain, 2022, ISSN 0006-8950
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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Auteurs: 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
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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

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Auteurs: 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
Publié dans: Hum Mutat, 2022, ISSN 1098-1004
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Genome sequencing as a generic diagnostic strategy for rare disease

Auteurs: 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.
Publié dans: Genome Medicine, Numéro Volume 16, Numéro 1, 2024, ISSN 1756-994X
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Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

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

Auteurs: 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,
Publié dans: Movement Disorders, Numéro Volume 38, Numéro 6, 2023, Page(s) Pages 1109-1112, ISSN 0885-3185
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Auteurs: 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
Publié dans: Brain, Numéro 145, 2022, Page(s) 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

Auteurs: Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Auteurs: 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

Auteurs: 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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Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

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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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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

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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

Auteurs: van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna- Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A.
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Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

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Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases

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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

Auteurs: Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole Leeuw, Brigitte Faas, Thatjana Gardeitchik, Suzanne C. E. H. Sallevelt, Aimee Paulussen, Servi J. C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E. L. M. Vissers, Helger G. Ynt
Publié dans: Prenatal Diagnosis, Numéro 40/8, 2020, Page(s) 972-983, ISSN 0197-3851
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717

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

Auteurs: Celina São José, José Garcia-Pelaez, Marta Ferreira, Oscar Arrieta, Ana André, Nelson Martins, Samantha Solís, Braulio Martínez-Benítez, María Luisa Ordóñez-Sánchez, Maribel Rodríguez-Torres, Anna K. Sommer, Iris B. A. W. te Paske, Carlos Caldas, Marc Tischkowitz, Maria Teresa Tusié, Solve-RD DITF-GENTURIS, Nicoline Hoogerbrugge, German Demidov, Richarda M. de Voer, Steve Laurie & Car
Publié dans: Gasrtic Cancer, Numéro 5/1/2023, 2023, Page(s) 653–666, ISSN 1436-3305
Éditeur: Springer Nature
DOI: 10.1007/s10120-023-01395-0

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

Auteurs: Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps
Publié dans: Neurology Genetics, Numéro 5/6, 2019, Page(s) e374, ISSN 2376-7839
Éditeur: Wolters Kluwer Health, Inc
DOI: 10.1212/nxg.0000000000000374

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

Auteurs: Dingemans AJM, Hinne M, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, van Bon BW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, van Gerven MAJ, Vissers LELM, de Vries BBA.
Publié dans: Genetics in Medicine, 2022, ISSN 1098-3600
Éditeur: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2021.10.019

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

Auteurs: German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski
Publié dans: Mol Genet Genomic Med, Numéro 9, 2021, ISSN 2324-9269
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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Auteurs: German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, Solve-RD consortium, Katja Lohmann & Stephan Ossowski
Publié dans: Eur J Hum Genet, 2024, ISSN 1018-4813
Éditeur: Natue Publishing Group
DOI: 10.1038/s41431-024-01637-4

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

Auteurs: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Publié dans: Frontiers in Neurology, Numéro 11, 2020, ISSN 1664-2295
Éditeur: Frontiers Research Foundation
DOI: 10.3389/fneur.2020.569996

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

Auteurs: Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Publié dans: Neuromuscular Disorders, Numéro 30/12, 2020, Page(s) 1008-1048, ISSN 0960-8966
Éditeur: Elsevier BV
DOI: 10.1016/j.nmd.2020.11.009

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

Auteurs: Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Publié dans: Neuromuscular Disorders, Numéro 29/12, 2019, Page(s) 980-1018, ISSN 0960-8966
Éditeur: Elsevier BV
DOI: 10.1016/j.nmd.2019.10.010

The 2024 version of the gene table of neuromuscular disorders (nuclear genome)

Auteurs: Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Publié dans: Neuromuscular Disorders, 2024, ISSN 0960-8966
Éditeur: Elsevier BV
DOI: 10.1016/j.nmd.2023.12.007

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

Auteurs: Te Paske IBAW, Mensenkamp AR, Neveling K; ERN-GENTURIS Lynch-Like Working Group; Hoogerbrugge N, Ligtenberg MJL, De Voer RM.
Publié dans: 2022
Éditeur: Elsevier
DOI: 10.1053/j.gastro.2022.08.041

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Auteurs: Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiel
Publié dans: 2023
Éditeur: BMJ
DOI: 10.1136/jmg-2022-108684

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

Auteurs: Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici and Alessandra Ferlini
Publié dans: Frontiers in Neurology, Numéro Front. Neurol. 14:1288721, 2024
Éditeur: Frontiers
DOI: 10.3389/fneur.2023.1288721

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

Auteurs: 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
Publié dans: European Society of Human Genetics Conference 2020, Numéro P22.61.A, 2020
Éditeur: EURORDIS-Rare Diseases Europe

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

Auteurs: 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
Publié dans: European Conference on Rare Diseases 2020, Numéro P031, 2020
Éditeur: EURORDIS-Rare Diseases Europe

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BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Numéro de demande/publication: 20 18077133
Date: 2018-10-05
Demandeur(s): UNIVERSITEIT ANTWERPEN

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Numéro de demande/publication: 20 18077133
Date: 2018-10-05
Demandeur(s): UNIVERSITEIT ANTWERPEN

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