Solving the unsolved Rare Diseases

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Resultado final

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.

Publicaciones

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Autores: 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.
Publicado en: Genome Med., Edición 15(1):34, 2023, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-023-01183-6

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

Autores: 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
Publicado en: Movement Disorders, Edición Volume 38, Edición 2, 2022, Página(s) Pages 347-353, ISSN 0885-3185
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mds.29280

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

Autores: 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
Publicado en: BRAIN, 2023, Página(s) 2023: 146; 4880–4890, ISSN 0006-8950
Editor: 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

Autores: 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
Publicado en: Genet Med., Edición (10):2051-2064, 2022, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.06.007

Autores: 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
Publicado en: European Journal of Human Genetics, Edición 31(6), 2023, Página(s) 648-653, ISSN 1018-4813
Editor: 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

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

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

Autores: 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
Publicado en: Genetics in Medicine, 2021, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01246-2

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

Autores: 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
Publicado en: HGG Adv., Edición 4(3):100200, 2023, ISSN 2666-2477
Editor: 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.

Autores: 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
Publicado en: Cancers (Basel), 2021, ISSN 2072-6694
Editor: 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

Autores: 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,
Publicado en: Nat Genet, Edición 55(7):1149-1163, 2023, ISSN 1061-4036
Editor: 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

Autores: 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
Publicado en: Transl Psychiatry., Edición 12(1):421, 2022, ISSN 2158-3188
Editor: 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)

Autores: 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
Publicado en: European Journal of Human Genetics, Edición 23, 2021, Página(s) 1348–1353, ISSN 1018-4813
Editor: 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

Autores: 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
Publicado en: Genetics in Medicine, Edición Vol. 25, Edición 4, 19 Jan 2023, 2023, Página(s) 15, ISSN 1098-3600
Editor: 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

Autores: 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
Publicado en: Acta Neuropathol., Edición 146(2), 2023, Página(s) 353-368, ISSN 0001-6322
Editor: Springer Verlag
DOI: 10.1007/s00401-023-02579-9

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición Volume 108, 2021, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

Autores: Tedesco B, Vendredy L, Timmerman V, Poletti A
Publicado en: Autophagy, Edición 19(6), 2023, Página(s) 1619-1641, ISSN 1554-8627
Editor: 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

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

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

Autores: Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
Publicado en: Trends in Neuroscience, 2024, ISSN 0166-2236
Editor: 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

Autores: 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
Publicado en: Annals of Neurology, Edición Volume94, Edición3, 2023, Página(s) Pages 470-485, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.26712

GA4GH Phenopackets: A Practical Introduction

Autores: 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
Publicado en: Adv Genet (Hoboken), 2022, Página(s) 2200016, ISSN 2641-6573
Editor: 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

Autores: 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.
Publicado en: EBioMedicine, Edición 92:104621, 2023, ISSN 2352-3964
Editor: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104621

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

Autores: 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
Publicado en: American Journal of Medical Genetics, Edición 191(3), 2022, Página(s) 823-830, ISSN 1552-4833
Editor: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63061

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

Autores: 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)
Publicado en: Movement Disorders Journal, Edición Volume 37, Edición 6, 2022, Página(s) p. 1125-1130, ISSN 0885-3185
Editor: 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

Autores: 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.
Publicado en: Frontiers in Genetics, Edición Volume 14, 2023, ISSN 1664-8021
Editor: Frontiers Media
DOI: 10.3389/fgene.2023.1304520

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

Autores: Enzo Cohen, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Publicado en: Neuromuscular Disorders, 2021, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2021.11.004

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

Autores: 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.
Publicado en: Eur J Hum Genet., Edición (1):81-88, 2023, ISSN 1018-4813
Editor: 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

Autores: 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.
Publicado en: J Neurol Neurosurg Psychiatry, Edición 2023-331490, 2023, ISSN 0022-3050
Editor: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-331490

Towards a European health research and innovation cloud (HRIC)

Autores: 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
Publicado en: Genome Medicine, Edición 12/1, 2020, ISSN 1756-994X
Editor: 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

Autores: 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
Publicado en: Advanced Genetics, Edición 1/1, 2020, Página(s) e10023, ISSN 2641-6573
Editor: Wiley
DOI: 10.1002/ggn2.10023

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

Autores: 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
Publicado en: Annals of Clinical and Translational Neurology, Edición 2022 March, 2022, Página(s) 326–338, ISSN 2328-9503
Editor: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518

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

Autores: 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
Publicado en: Life Sci Alliance, Edición 4(11), 2021, ISSN 2575-1077
Editor: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057

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

Autores: Iris B. A. W. te Paske, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer
Publicado en: International Journal of Molecular Sciences, Edición 21/22, 2020, Página(s) 8757, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757

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

Autores: 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
Publicado en: Brain Pathology, Edición e13200, 2023, Página(s) e13200, ISSN 1015-6305
Editor: International Society of Neuropathology
DOI: 10.1111/bpa.13200

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

Autores: van der Made CI, Netea MG, van der Veerdonk FL, Hoischen A
Publicado en: Genome Med., Edición 14(1):96, 2022, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-022-01100-3

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

Autores: 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
Publicado en: Mol Cell, Edición 81(12), 2021, Página(s) 2640-2655, ISSN 1097-2765
Editor: Cell Press
DOI: 10.1016/j.molcel.2021.04.028

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

Autores: May Yung Tiet, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
Publicado en: Journal of Neuromuscular Diseases, 2021, ISSN 1877-7171
Editor: IOS Press
DOI: 10.3233/jnd-210715

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

Autores: 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
Publicado en: J Neurol Neurosurg Psychiatry, Edición 93(5), 2022, Página(s) 530-538, ISSN 0022-3050
Editor: BMJ Publishing Group
DOI: 10.1136/jnnp-2021-328483

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

Autores: Jonathan De Winter , Danique Beijer, Willem De Ridder, Matthis Synofzik, Stephan L Zuchner, PREPARE consortium; Philip Van Damme, Werner Spileers, Jonathan Baets
Publicado en: Brain, Edición 144(2), 2021, ISSN 0006-8950
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Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges.

Autores: Garcia-Pelaez J, Barbosa-Matos R, Gullo I, Carneiro F, Oliveira C
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Editor: Wiley
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Autores: 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
Publicado en: The Journal of Molecular Diagnostics, Edición 24, 2022, Página(s) 529-542, ISSN 1525-1578
Editor: 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

Autores: 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
Publicado en: Journal of Nephrology, 2021, Página(s) 1855–1874, ISSN 1724-6059
Editor: Springer Nature
DOI: 10.1007/s40620-021-01048-4

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

Autores: Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA.
Publicado en: European Journal of Human Genetics, 2021, ISSN 1018-4813
Editor: Natue Publishing Group

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder

Autores: Tanja Schmitz-Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella-Maria Kadas, Maria R€onnefarth, Anne-Sop
Publicado en: Ann Clin Transl Neurol, Edición 8(4), 2021, Página(s) 774–789, ISSN 2328-9503
Editor: Wiley Periodicals LLC
DOI: 10.1002/acn3.51315

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Autores: Adam Jackson 1 2, Sheng-Jia Lin 3, Elizabeth A Jones 1 2, Kate E Chandler 2, David Orr 2, Celia Moss 4, Zahra Haider 4, Gavin Ryan 5, Simon Holden 6, Mike Harrison 7, Nigel Burrows 8, Wendy D Jones 9, Mary Loveless 3, Cassidy Petree 3, Helen Stewart 10, Karen Low 11, Deirdre Donnelly 12, Simon Lovell 1, Konstantina Drosou 13 14; Genomics England Research Consortium; Solve-RD consortium; Gaurav K V
Publicado en: HGG Advances, Edición Vol. 4, Edición 2, 13 Apr 2023, 2023, Página(s) 19, ISSN 2666-2477
Editor: Elsevier
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Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients

Autores: Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano
Publicado en: Clinical Kidney Journal, 2021, Página(s) 1545–1551, ISSN 2048-8513
Editor: Oxford University Press
DOI: 10.1093/ckj/sfaa182

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Autores: Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Faur
Publicado en: Am J Hum Genet, 2021, ISSN 0002-9297
Editor: University of Chicago Press
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Autores: Annalaura Torella, Ivana Ricca, Giulio Piluso, Daniele Galatolo, Giuseppe De Michele, Mariateresa Zanobio, Rosanna Trovato, Giovanna De Michele, Roberta Zeuli, Chiara Pane, Sirio Cocozza, Francesco Saccà, Filippo M Santorelli, Vincenzo Nigro, Alessandro Filla
Publicado en: Journal of Neurology, Edición 270(10), 2023, Página(s) 5057-5063, ISSN 0340-5354
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-023-11816-w

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Autores: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen & Solve-RD consortium
Publicado en: Human Genomics, Edición 17, 03 May 2023, 2023, Página(s) 9, ISSN 1479-7364
Editor: Springer Nature
DOI: 10.1186/s40246-023-00485-5

Whole-genome sequencing of patients with rare diseases in a national health system

Autores: Ernest Turro, William J. Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David L. Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P.
Publicado en: Nature, Edición 583/7814, 2020, Página(s) 96-102, ISSN 0028-0836
Editor: Nature Publishing Group
DOI: 10.1038/s41586-020-2434-2

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Autores: van der Sanden BPGH, Corominas J, de Groot M, Pennings M, Meijer RPP, Verbeek N, van de Warrenburg B, Schouten M, Yntema HG, Vissers LELM, Kamsteeg EJ, Gilissen C.
Publicado en: Genetics in Medicine, 2021, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01174-1

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Autores: David Lewis-Smith, Peter D. Galer, Ganna Balagura, Hugh Kearney, Shiva Ganesan, Mahgenn Cosico, Margaret O’Brien, Priya Vaidiswaran, Roland Krause, Colin A. Ellis, Rhys H. Thomas, Peter N. Robinson and Ingo Helbig
Publicado en: Epilepsia, Edición 2021;62, 2021, Página(s) 1293–1305, ISSN 0013-9580
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Autores: Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S.
Publicado en: Orphanet J Rare Dis, 2022, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-021-02068-w

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Autores: Mahmoud Koko, Ashraf Yahia, Liena E Elsayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed, Muddathir H A Hamad, Arwa M Babai, Rayan A Siddig, Amal S I Abd Allah, Mayada Mohamed, Melka El-Amin, Typhaine Esteves, Janine Altmüller, Mohammad Reza Toliat, Holger Thiele, Peter Nürnberg, Mustafa A Salih, Ammar E Ahmed, Holger Lerche, Giovanni Stevanin.
Publicado en: Ann Hum Genet, Edición 85(5), 2021, Página(s) 186-195, ISSN 1469-1809
Editor: John Wiley & Sons Ltd/University College London
DOI: 10.1111/ahg.12437

Recommendations for whole genome sequencingin diagnostics for rare diseases

Autores: Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De
Publicado en: European Journal of Human Genetics, 2022, Página(s) 5, ISSN 1476-5438
Editor: Nature Publishing Group
DOI: 10.1038/s41431-022-01113-x

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

Autores: Vyne van der Schoot; Lonneke Haer-Wigman; Ilse Feenstra; Femke Tammer; Anke J M Oerlemans; Martine P A van Koolwijk; Frans van Agt; Yvonne Arens; Han G. Brunner; Han G. Brunner; Lisenka E.L.M. Vissers; Helger G. Yntema
Publicado en: VOLUME=30;ISSUE=2;STARTPAGE=170;ENDPAGE=177;ISSN=1018-4813;TITLE=European Journal of Human Genetics, Edición 31, 2022, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00964-0

Human disease genes website series: An international, open and dynamic library for up-to-date clinical information

Autores: Dingemans AJM, Stremmelaar DE, Vissers LELM, Jansen S, Nabais Sá MJ, van Remortele A, Jonis N, Truijen K, van de Ven S, Ewals J, Verbruggen M, Koolen DA, Brunner HG, Eichler EE, Gecz J, de Vries BBA.
Publicado en: American Journal of Medical Genetics, 2021, ISSN 1552-4868
Editor: Wiley-Liss Inc

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

Autores: Luciano Merlini; Patrizia Sabatelli; Manuela Antoniel; Valeria Carinci; Fabio Niro; Giuseppe Monetti; Annalaura Torella; Teresa Giugliano; Cesare Faldini; Vincenzo Nigro
Publicado en: Skeletal Muscle, Edición 17, 2019, Página(s) 1-7, ISSN 2044-5040
Editor: BioMed Central
DOI: 10.1186/s13395-019-0199-9

Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1

Autores: Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R.
Publicado en: Stem Cell Research, 2019, ISSN 1873-5061
Editor: Elsevier
DOI: 10.1016/j.scr.2020.102059

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

Autores: Birte Zurek, Kornelia Ellwanger, Lisenka E. L. M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A. C. ’t Hoen, Antonio Vitobello, Julia M. Schulze-Hentrich, Olaf Riess, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha
Publicado en: European Journal of Human Genetics, Edición 29, 2021, Página(s) 1325–1331, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00859-0

A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins

Autores: T Reid Alderson, Elias Adriaenssens, Bob Asselbergh, Iva Pritišanac, Jonas Van Lent, Heidi Y Gastall, Marielle A Wälti, John M Louis, Vincent Timmerman, Andrew J Baldwin, Justin Lp Benesch
Publicado en: EMBO J, 2021, ISSN 0261-4189
Editor: Nature Publishing Group
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Delineating MT-ATP6 -associated disease

Autores: Claudia Stendel, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D. Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M. Stettner, Boriana Büchner, Marni J. Falk, Johannes A. Mayr, Matthis Synofzik, Angela Abicht, Tobias B. Haack, Holger Prokisch, Saskia B. Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock
Publicado en: Neurology Genetics, Edición 6/1, 2019, Página(s) e393, ISSN 2376-7839
Editor: Wolters Kluwer
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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Autores: Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O'Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M Fare, Lauren E Drake, Alice F Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C Voermans, Richard Jlf Lemmers, Silvère M van der Maarel, Devon Bonner, Jacinda B Sampson, Matthew T Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe
Publicado en: JCI Insight, Edición 6(14), 2021, ISSN 2379-3708
Editor: American Society for Clinical Investigation
DOI: 10.1172/jci.insight.148363

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

Autores: Chantal Deden; Chantal Deden; Kornelia Neveling; Dimitra Zafeiropopoulou; Christian Gilissen; Rolph Pfundt; Tuula Rinne; Nicole de Leeuw; Brigitte H. W. Faas; Thatjana Gardeitchik; Suzanne C E H Sallevelt; Aimee D C Paulussen; Servi J. C. Stevens; Esther Sikkel; Mariet W. Elting; Merel C. van Maarle; Karin E. M. Diderich; Nicole Corsten-Janssen; Klaske D. Lichtenbelt; Guus Lachmeijer; Lisenka E.L.
Publicado en: Prenatal Diagnosis, 40(8), 972 - 983. Wiley, Edición 27, 2021, ISSN 0197-3851
Editor: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717

The Treatabolome, an emerging concept

Autores: Gisèle Bonne
Publicado en: Journal of Neuromuscular Diseases, 2021, Página(s) 337–339, ISSN 1877-7171
Editor: IOS Press
DOI: 10.3233/jnd-219003

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

Autores: Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets
Publicado en: Ann Neurol, Edición 91(2), 2022, Página(s) 298-299, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.26297

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

Autores: Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santore
Publicado en: Front Neurol, Edición 12, 2021, ISSN 1664-2295
Editor: Frontiers Research Foundation
DOI: 10.3389/fneur.2021.677551

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

Autores: Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T.
Publicado en: Clinical Genetics, Edición Volume 105, Edición 6, 2024, Página(s) 655-660, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.14498

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

Autores: de Boer, E.; Ockeloen, C. W.; Matalonga, L.; Horvath, R.; Rodenburg, R. J.; Coenen, M. J. H.; Janssen, M.; Henssen, D.; Gilissen, C.; Steyaert, W.; Paramonov, I.; Trimouille, A.; Kleefstra, T.; Verloes, A.; Vissers, L. E. L. M.; Nigro, V.; Torella, A.; Banfi, S.
Publicado en: "European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00900-2⟩", Edición 23, 2021, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00900-2

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

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición Volume 111, Edición 4, 2024, Página(s) 791-804, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2024.02.013

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Autores: 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
Publicado en: American Journal of Human Genetics, Edición 110(8), 2023, Página(s) 1377-1393, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2023.06.012

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Autores: e Paske IBAW, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A; Solve-RD-GENTURIS group, van der Post RS, Lubinski J, Oliveira C, Hoogerbrugge N, de Voer RM
Publicado en: Eur J Hum Genet, 2021, ISSN 1769-7212
Editor: Elsevier BV
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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

Autores: David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
Publicado en: eBioMedicine, Edición Volume 102, 2024, ISSN 2352-3964
Editor: Elsevier BV
DOI: 10.1016/j.ebiom.2024.105076

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

Autores: Weihl CC, Töpf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez-González C, Alsaman A, Hernández-Laín A, Franco LV, Sanchez MEP, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V.
Publicado en: Acta Neuropathol., Edición 145(1), 2022, Página(s) 127-143, ISSN 0001-6322
Editor: Springer Verlag
DOI: 10.1007/s00401-022-02510-8

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

Autores: David Mengel, Andreas Traschütz, Selina Reich, Alejandra Leyva-Gutiérrez, Friedemann Bender, Stefan Hauser, Tobias B. Haack, and Matthis Synofzik.
Publicado en: J Neurol, Edición 268, 2021, Página(s) 3845–3851, ISSN 0340-5354
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-021-10524-7

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

Autores: Matthew J. Jennings, Angela Lochmüller, Antonio Atalaia, Rita Horvath
Publicado en: Journal of Neuromuscular Diseases, 2020, Página(s) 1-18, ISSN 2214-3599
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Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

Autores: Marouane A, Olde Keizer RACM, Frederix GWJ, Vissers LELM, de Boode WP, van Zelst-Stams WAG.
Publicado en: European Journal of Pedriatrics, 2022, ISSN 0340-6199
Editor: Springer Verlag
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Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a 'Treatabolome'

Autores: Alexander Manta; Alexander Manta; Sally Spendiff; Hanns Lochmüller; Rachel Thompson
Publicado en: Journal of Neuromuscular Diseases, Edición 11, 2021, ISSN 1877-7171
Editor: IOS Press
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Autores: Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A.
Publicado en: J Pathol., 2022, ISSN 0022-3417
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Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes

Autores: Garcia-Pelaez, J., Barbosa-Matos, R., São José, C., Sousa, S., Gullo, I., Hoogerbrugge, N., Carneiro, F., Oliveira, C
Publicado en: European Journal of Medical Genetics, 2022, ISSN 1769-7212
Editor: Elsevier BV
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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Autores: Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, Lisenka E. L. M. Vissers,
Publicado en: Nature, Edición 586/7831, 2020, Página(s) 757-762, ISSN 0028-0836
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrom

Autores: Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux, Valentina Stanley, Andreea Manole, Ugur Akpulat, Marjan M Weiss, Stephanie Efthymiou, Michael G Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Peter Nürnberg, Holger Thiele, Uluc Yis, Tuncay
Publicado en: AJHG, 2018, ISSN 0002-9297
Editor: University of Chicago Press
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Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

Autores: Jackson A, Banka S, Stewart H; Genomics England Research Consortium, Robinson H, Lovell S, Clayton-Smith J.
Publicado en: American Journal of Medical Genetics Part A, 2021, ISSN 1552-4833
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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

Autores: Chiara Passarelli, Rita Selvatici, Alberto Carrieri, Francesca Romana Di Raimo, Maria Sofia Falzarano, Fernanda Fortunato, Rachele Rossi, Volker Straub, Katie Bushby, Mojgan Reza, Irina Zharaieva, Adele D’Amico, Enrico Bertini, Luciano Merlini, Patrizia Sabatelli, Paola Borgiani, Giuseppe Novelli, Sonia Messina, Marika Pane, Eugenio Mercuri, Mireille Claustres, Sylvie Tuffery-Giraud, Annemieke A
Publicado en: Frontiers in Genetics, Edición 11, 2020, ISSN 1664-8021
Editor: Frontiers Media
DOI: 10.3389/fgene.2020.00605

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genet Med. 2024 Mar 7:101119. doi: 10.1016/j.gim.2024.101119. Epub ahead of print. PMID: 38465576.

Autores: Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A.
Publicado en: Genetics in Medicine, 2024, ISSN 1530-0366
Editor: Elsevier
DOI: 10.1016/j.gim.2024.101119

Autores: Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets,
Publicado en: Neurology Genetics, Edición Feb 2021, 7 (1) e536, 2021, Página(s) 14, ISSN 2376-7839
Editor: American Academy of Neurology
DOI: 10.1212/nxg.0000000000000536

Presence of Genetic Variants Among Young Men With Severe COVID-19

Autores: an der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG, Netea M
Publicado en: JAMA, 2020, ISSN 0098-7484
Editor: American Medical Association
DOI: 10.1001/jama.2020.13719

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

Autores: 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
Publicado en: Brain, Edición 144(5), 2021, Página(s) 1422–1434, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awab041

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

Autores: Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL
Publicado en: N Engl J Med, Edición 388:128-141, 2023, ISSN 0028-4793
Editor: Massachusetts Medical Society
DOI: 10.1056/nejmoa2207406

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Autores: 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
Publicado en: Am J Med Genet C Semin Med Genet, 2022, Página(s) 231-242, ISSN 1552-4876
Editor: Wiley Periodicals, LLC
DOI: 10.1002/ajmg.c.31989

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

Autores: Olde Keizer RACM, Henneman L, Ploos van Amstel JK, Vissers LELM, Frederix GWJ.
Publicado en: Journal of Medical Economics, 2022, ISSN 1369-6998
Editor: P J B Publications Ltd.

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

Autores: 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.
Publicado en: European Journal of Medical Genetics, 2022, ISSN 1769-7212
Editor: Elsevier BV

The Human Phenotype Ontology in 2021

Autores: 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
Publicado en: Nucleic Acids Research, 2021, Vol. 49, Edición 2021 Jan 8, 2021, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gkaa1043

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

Autores: 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
Publicado en: European Journal of Human Genetics, 2023, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-023-01478-7

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Autores: Maria Elena Onore,Annalaura Torella,Francesco Musacchia,Paola D’Ambrosio,Mariateresa Zanobio, Francesca Del Vecchio Blanco,Giulio Piluso, Vincenzo Nigro
Publicado en: Genes, 2021, ISSN 2073-4425
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12020133

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición 109, 2022, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.08.008

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Autores: 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
Publicado en: Movement Disorders, Edición Volume 38, Edición 8, 2023, Página(s) 1557-1558, ISSN 0885-3185
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mds.29559

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Autores: 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
Publicado en: Genome Medicine, 2022, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-022-01046-6

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Autores: 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
Publicado en: Brain, Edición 144(8), 2021, Página(s) 2471-2485, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awab226

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Autores: 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
Publicado en: Nature genetics, Edición Volume 56, Edición 3, 2024, Página(s) 395-4, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-023-01651-0

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Autores: 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
Publicado en: Neurology Genetics, 2021, Página(s) e619, ISSN 2376-7839
Editor: American Accademy of Neurology
DOI: 10.1212/nxg.0000000000000619

Solving unsolved rare neurological diseases—a Solve-RD viewpoint.

Autores: 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.
Publicado en: Eur J Hum Genet, Edición 29, 2021, Página(s) 1332–1336, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00901-1

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD

Autores: 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
Publicado en: Eur J Med Genet, 2022, ISSN 1769-7212
Editor: Elsevier BV
DOI: 10.1016/j.ejmg.2022.104475

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

Autores: 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.
Publicado en: VOLUME=42;ISSUE=4;STARTPAGE=445;ENDPAGE=459;ISSN=1059-7794;TITLE=Human mutation, Edición 16, 2021, ISSN 1098-1004
Editor: John Wiley & Sons
DOI: 10.1002/humu.24176

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

Autores: van Slobbe M, van Haeringen A, Vissers LELM, Bijlsma EK, Rutten JW, Suerink M, Nibbeling EAR, Ruivenkamp CAL, Koene S.
Publicado en: European Journal of Pediatrics, Edición Volume 183, Edición 1, 2024, Página(s) 345-355, ISSN 1432-1076
Editor: .
DOI: 10.1007/s00431-023-05279-4

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

Autores: Danique Beijer, Brent L. Fogel, Sergi Beltran, Matt C. Danzi, Andrea H. Németh, Stephan Züchner, Matthis Synofzik & AGI Ataxia NGS genomics, platforms Working Group
Publicado en: The Cerebellum, Edición 3/4/2023, 2023, ISSN 1473-4230
Editor: Springer Nature
DOI: 10.1007/s12311-023-01537-1

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Autores: 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.
Publicado en: European Journal of Human Genetics, 2022, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00960-4

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Autores: 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
Publicado en: Journal of Community Genetics, 2022, ISSN 1868-310X
Editor: Springer Verlag
DOI: 10.1007/s12687-022-00589-w

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Autores: 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
Publicado en: Orphanet Journal of Rare Diseases, Edición 15/1, 2020, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-020-01493-7

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Autores: 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
Publicado en: Genetics in Medicine, 2021, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01260-4

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Autores: 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
Publicado en: European Journal of Human Genetics, 2020, Página(s) 1602–1614, ISSN 1476-5438
Editor: Springer Nature
DOI: 10.1038/s41431-020-0691-z

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Autores: 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.
Publicado en: Clinical Genetics, 2021, ISSN 1399-0004
Editor: John Wiley & Sons Ltd
DOI: 10.1111/cge.14071

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

Autores: 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.
Publicado en: Elife, Edición 11:e78469, 2022, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.78469

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

Autores: 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
Publicado en: Am J Hum Genet., Edición 110(5), 2023, Página(s) 790-808, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2023.03.016

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

Autores: Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca
Publicado en: Neurology, Edición 97(23), 2021, ISSN 0028-3878
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000012962

Titin copy number variations associated with dominant inherited phenotypes

Autores: 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
Publicado en: Journal of Medical Genetics, 2024, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmg-2023-109473

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Autores: 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
Publicado en: Brain Communications, Edición 2/2, 2020, ISSN 2632-1297
Editor: Oxford University Press
DOI: 10.1093/braincomms/fcaa122

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

Autores: 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,
Publicado en: American Journal of Human Genetics, 2021, ISSN 0002-9297
Editor: University of Chicago Press

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

Autores: 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
Publicado en: American Journal of Human Genetics, 2021, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.04.008

Wnt genes in colonic polyposis predisposition

Autores: 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.
Publicado en: Genes & Diseases, 2022, ISSN 2352-4820
Editor: Elsevier
DOI: 10.1016/j.gendis.2022.12.002

Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant

Autores: Arianna De Laurentiis; Claudia Ciaccio; Alessandra Erbetta; Michele Pinelli; Vincenzo Nigro; Chiara Pantaleoni; Stefano D'Arrigo
Publicado en: American Journal of Medical Genetics, 2023, ISSN 1552-4833
Editor: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63123

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Autores: Maria Elena Onore; Marco Savarese; Esther Picillo; Luigia Passamano; Vincenzo Nigro; Luisa Politano
Publicado en: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232415906

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Autores: 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.
Publicado en: Nature Communications, Edición Volume 14, Edición 2, 2023, Página(s) 6845, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-023-42531-9

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Autores: 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
Publicado en: Genetics in Medicine, 2022, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2021.10.014

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

Autores: 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
Publicado en: The Journal of Molecular Diagnostics, Edición 22/9, 2020, Página(s) 1205-1215, ISSN 1525-1578
Editor: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2020.06.008

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

Autores: 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.
Publicado en: Journal of Inherited Metabolic Disease, 2022, ISSN 0141-8955
Editor: Kluwer Academic Publishers

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

Autores: Antonio Atalaia , Rabah Ben Yaou, Karim Wahbi, Annachiara De Sandre-Giovannoli, Corinne Vigouroux, Gisèle Bonne
Publicado en: Journal of Neuromuscular Diseases, 2021, Página(s) 337-339, ISSN 1877-7171
Editor: IOS Press
DOI: 10.3233/jnd-200596

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

Autores: 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
Publicado en: British Journal of Dermatology, 2022, ISSN 0007-0963
Editor: Blackwell Publishing Inc.
DOI: 10.1093/bjd/ljac026

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

Autores: Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Publicado en: Neuron, Edición 101/4, 2019, Página(s) 560-583, ISSN 0896-6273
Editor: Cell Press
DOI: 10.1016/j.neuron.2019.01.049

The European Genome-phenome Archive in 2021

Autores: 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
Publicado en: Nucleic Acids Research, Edición 50/D1, 2021, Página(s) D980–D987, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gkab1059

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

Autores: Sebastian Köhler
Publicado en: Database, Edición 2018/1, 2018, ISSN 1758-0463
Editor: Oxford University Press
DOI: 10.1093/database/bay026

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

Autores: Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Publicado en: Human Molecular Genetics, Edición 28/4, 2018, Página(s) 615-627, ISSN 0964-6906
Editor: Oxford University Press
DOI: 10.1093/hmg/ddy352

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

Autores: 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
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-07953-w

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

Autores: Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Publicado en: Journal of Neurology, Neurosurgery & Psychiatry, Edición 90/1, 2018, Página(s) 58-67, ISSN 0022-3050
Editor: 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

Autores: 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
Publicado en: Immunity, Edición 50/5, 2019, Página(s) 1218-1231.e5, ISSN 1074-7613
Editor: 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

Autores: 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
Publicado en: European Journal of Human Genetics, Edición 26/11, 2018, Página(s) 1623-1634, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-018-0206-3

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Autores: Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Publicado en: Autophagy, Edición 15/6, 2019, Página(s) 1051-1068, ISSN 1554-8627
Editor: Landes Bioscience
DOI: 10.1080/15548627.2019.1569930

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Autores: Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Publicado en: Emerging Topics in Life Sciences, Edición 3/1, 2019, Página(s) 19-37, ISSN 2397-8554
Editor: Portland Press
DOI: 10.1042/etls20180100

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Autores: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Publicado en: Orphanet Journal of Rare Diseases, Edición 13/1, 2018, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-018-0955-7

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

Autores: Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Publicado en: Expert Review of Neurotherapeutics, Edición 19/5, 2019, Página(s) 409-415, ISSN 1473-7175
Editor: Future Drugs Ltd.
DOI: 10.1080/14737175.2019.1608824

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Autores: 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
Publicado en: Neurology, Edición 92/23, 2019, Página(s) e2679-e2690, ISSN 0028-3878
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000007606

Update on the Genetics of Spastic Paraplegias

Autores: Maxime Boutry, Sara Morais, Giovanni Stevanin
Publicado en: Current Neurology and Neuroscience Reports, Edición 19/4, 2019, ISSN 1528-4042
Editor: Current Science Inc.
DOI: 10.1007/s11910-019-0930-2

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición 104/4, 2019, Página(s) 767-773, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.03.001

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Autores: María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Publicado en: Orphanet Journal of Rare Diseases, Edición 14/1, 2019, ISSN 1750-1172
Editor: BioMed Central
DOI: 10.1186/s13023-018-0985-1

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Autores: 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
Publicado en: Nucleic Acids Research, Edición 47/D1, 2018, Página(s) D1018-D1027, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gky1105

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Autores: Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller
Publicado en: Human Mutation, 2019, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23792

Phenotero: Annotate as you write

Autores: Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Publicado en: Clinical Genetics, Edición 95/2, 2019, Página(s) 287-292, ISSN 0009-9163
Editor: Blackwell Publishing Inc.
DOI: 10.1111/cge.13471

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Autores: Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
Publicado en: Nucleic Acids Research, Edición 47/W1, 2019, Página(s) W106-W113, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gkz327

Long-Read Sequencing Emerging in Medical Genetics

Autores: Tuomo Mantere, Simone Kersten, Alexander Hoischen
Publicado en: Frontiers in Genetics, Edición 10, 2019, ISSN 1664-8021
Editor: Frontiers Media
DOI: 10.3389/fgene.2019.00426

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Autores: 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
Publicado en: Genome Medicine, Edición 11/1, 2019, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-019-0649-3

Somatic mutational signatures in polyposis and colorectal cancer

Autores: Judith E. Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M. de Voer
Publicado en: Molecular Aspects of Medicine, 2019, ISSN 0098-2997
Editor: Pergamon Press Ltd.
DOI: 10.1016/j.mam.2019.05.002

Small heat shock proteins in neurodegenerative diseases.

Autores: Vendredy, Leen; Adriaenssens, Elias; Timmerman, Vincent
Publicado en: Cell stress and chaperones, Edición 6, 2020, ISSN 1466-1268
Editor: Springer Nature
DOI: 10.1007/s12192-020-01101-4

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Autores: 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
Publicado en: Autophagy, Edición 19(8), 2023, Página(s) 2217-2239, ISSN 1554-8627
Editor: Landes Bioscience
DOI: 10.1080/15548627.2023.2179780

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Autores: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Publicado en: BMC Medical Genetics, Edición 20/1, 2019, ISSN 1471-2350
Editor: BioMed Central
DOI: 10.1186/s12881-019-0795-x

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

Autores: 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
Publicado en: EMBO Molecular Medicine, Edición 12/7, 2020, ISSN 1757-4676
Editor: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201911803

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients

Autores: Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets
Publicado en: Neuromuscul Disord, Edición 31(11), 2021, Página(s) 1154-1160, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2021.04.010

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Autores: 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
Publicado en: Annals of Neurology, Edición 88/2, 2020, Página(s) 251-263, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.25751

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Autores: 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
Publicado en: Brain, 2022, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awac055

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Autores: 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
Publicado en: Acta Neuropathologica, 2021, Página(s) 375–393, ISSN 1432-0533
Editor: Springer Nature
DOI: 10.1007/s00401-021-02319-x

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

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición 107/1, 2020, Página(s) 164-172, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2020.05.017

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

Autores: 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
Publicado en: Hum Mutat, 2022, ISSN 1098-1004
Editor: Wiley Periodicals, LLC
DOI: 10.1002/humu.24333

Genome sequencing as a generic diagnostic strategy for rare disease

Autores: 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.
Publicado en: Genome Medicine, Edición Volume 16, Edición 1, 2024, ISSN 1756-994X
Editor: BioMed Central
DOI: 10.1186/s13073-024-01301-y

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Autores: Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC.
Publicado en: Developmental Medicine & Child Neurology, 2021, ISSN 0012-1622
Editor: Mac Keith Press
DOI: 10.1111/dmcn.14989

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Autores: 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,
Publicado en: Movement Disorders, Edición Volume 38, Edición 6, 2023, Página(s) Pages 1109-1112, ISSN 0885-3185
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mds.29397

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Autores: 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
Publicado en: Brain, Edición 145, 2022, Página(s) 1507–1518, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awab395

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Autores: Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
Publicado en: Scientific Reports, Edición 10/1, 2020, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-020-65664-z

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Autores: 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
Publicado en: Neurology Genetics, Edición 6/1, 2019, Página(s) e384, ISSN 2376-7839
Editor: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000384

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Autores: 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
Publicado en: Neurology, Edición Mar 2; 96(9), 2021, Página(s) e1369–e1382, ISSN 0028-3878
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000011528

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

Autores: Fariba Zemorshidi, Ana Töpf, Kristl G. Claeys, Adam McFarlane, Annabel Patton, Shahriar Nafissi, Volker Straub
Publicado en: Neuromuscular Disorders, Edición Volume 34, 2024, Página(s) 83-88, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2023.10.013

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Autores: Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
Publicado en: Stem Cell Research, Edición 35, 2019, Página(s) 101336, ISSN 1873-5061
Editor: Elsevier
DOI: 10.1016/j.scr.2018.10.021

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Autores: Frédéric Darios, Giovanni Stevanin
Publicado en: Journal of Molecular Biology, Edición 432/8, 2020, Página(s) 2714-2734, ISSN 0022-2836
Editor: Academic Press
DOI: 10.1016/j.jmb.2020.02.033

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Autores: 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
Publicado en: Brain, Edición 146(7), 2023, Página(s) 2885-2896, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awac475

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Autores: 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.
Publicado en: BRAIN, 2022, Página(s) 145(3):1029-1037, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awab386

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Autores: Lindsay A. Wilson, William L. Macken, Luke D. Perry, Christopher J. Record, Katherine R. Schon, Rodrigo S. S. Frezatti, Sharika Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M. Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa L
Publicado en: Oxford Academic, Edición Volume 146, Edición 12, 2023, Página(s) 5098-5109, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awad254

Long-read trio sequencing of individuals with unsolved intellectual disability

Autores: 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
Publicado en: European Journal of Human Genetics, 2020, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-020-00770-0

Autores: 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
Publicado en: European journal of Human Genetics, Edición 32, 23 November 2023, 2023, Página(s) 182–189, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-023-01486-7

Remote visualization of large scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Autores: 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
Publicado en: Cell Genomics, Edición 2/8/2023, 2023, ISSN 2666-979X
Editor: Cell Press
DOI: 10.1016/j.xgen.2022.100246

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

Autores: 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
Publicado en: Human Mutation, Edición 17/02/2022, 2022, Página(s) 659-667, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.24353

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Autores: Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
Publicado en: Journal of Neurology, Edición 267/12, 2020, Página(s) 3643-3649, ISSN 0340-5354
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-020-10059-3

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Autores: Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-019-12620-9

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

Autores: David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M. Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack, Michael Strupp and Matthis Synofzik
Publicado en: Journal of Neurology, Edición Volume 271, 2024, Página(s) 2886–2892, ISSN 0340-5354
Editor: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-024-12229-z

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

Autores: Adriaenssens E, Asselbergh B, Rivera-Mejías P, Bervoets S, Vendredy L, De Winter V, Spaas K, de Rycke R, van Isterdael G, Impens F, Langer T, Timmerman V
Publicado en: Nature Cell Biology, Edición 25(3), 2023, Página(s) 467-480, ISSN 1465-7392
Editor: Nature Publishing Group
DOI: 10.1038/s41556-022-01074-9

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

Autores: Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consor
Publicado en: The American Journal of Human Genetics, 2021, ISSN 1537-6605
Editor: Cell Press
DOI: 10.1016/j.ajhg.2021.04.024

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

Autores: de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S
Publicado en: Genet Med., Edición 25(3):100345., 2023, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.11.013

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

Autores: Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, Ockeloen CW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Campeau PM, Palmer EE, Van Esch H, Lyon GJ, Alkuraya FS, Rauch A, Marom R, Baralle D, van der Sluijs PJ, Santen GWE, Kooy RF, van Gerven MAJ,
Publicado en: Nat Genet., Edición 55(9):1598-1607, 2023, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-023-01469-w

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Autores: 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
Publicado en: Annals of Neurology, Edición 88/1, 2020, Página(s) 18-32, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.25723

The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Autores: Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Publicado en: Neuromuscular Disorders, 2023, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2022.12.002

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Autores: Tim W Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S Söhn, Konstanze Hörtnagel, Kathrin N Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler-Neumann, Ingeborg Krägeloh-Mann, Michaela Auer-Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne-Katrin Giese, Jan L De Bleecker, Els Ortibus, Martine Debyser, Adolfo Lopez de Munain,
Publicado en: Brain, Edición 142/6, 2019, Página(s) 1561-1572, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awz102

The GA4GH Phenopacket schema defines a computable representation of clinical data

Autores: Julius O. B. Jacobsen, Michael Baudis, Gareth S. Baynam, Jacques S. Beckmann, Sergi Beltran, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, Kevin C. Kent Lloyd, Aly Khalifa, Peter M. Krawitz, Sebastian Köhler, Bri
Publicado en: Nature Biotechnology, Edición VOL 40, June 2022, 2022, Página(s) 815–820, ISSN 1087-0156
Editor: Nature Publishing Group
DOI: 10.1038/s41587-022-01357-4

Defects in Axonal Transport in Inherited Neuropathies.

Autores: Beijer, Danique; Sisto, Angela; Van Lent, Jonas; Baets, Jonathan; Timmerman, Vincent
Publicado en: Journal of Neuromuscular Diseases, Edición 11, 2019, Página(s) 401–419, ISSN 2214-3599
Editor: IOS Press
DOI: 10.3233/JND-190427

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

Autores: Carlo Wilke MD,Selina Reich MSc,John C. van Swieten MD, PhD,Barbara Borroni MD, PhD,Raquel Sanchez-Valle MD,Fermin Moreno MD, PhD,Robert Laforce MD, PhD,Caroline Graff MD, PhD,Daniela Galimberti PhD,James B. Rowe MD, PhD,Mario Masellis MD, PhD,Maria C. Tartaglia MD,Elizabeth Finger MD,Rik Vandenberghe MD, PhD,Alexandre de Mendonça MD, PhD,Fabrizio Tagliavini MD,Isabel Santana MD, PhD,Simon Duchar
Publicado en: Annals of Neurology, Edición Volume 91, Edición 1, 2022, Página(s) p. 33-47, ISSN 0364-5134
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ana.26265

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

Autores: Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih,
Publicado en: Nature communications, 2023, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-023-39645-5

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

Autores: Khazeeva G, Sablauskas K, van der Sanden B, Steyaert W, Kwint M, Rots D, Hinne M, van Gerven M, Yntema H, Vissers L, Gilissen C.
Publicado en: Nucleic Acids Res., Edición 50(17):e97, 2022, ISSN 0305-1048
Editor: Oxford University Press
DOI: 10.1093/nar/gkac511

Autores: Jean‐Madeleine de Sainte Agathe, Sandra Mercier, Jean‐Yves Mahé, Yann Péréon, Julien Buratti, Laurène Tissier, Bophara Kol, Samia Ait Said, Éric Leguern, Guillaume Banneau, Giovanni Stévanin
Publicado en: Movement Disorders, 2020, ISSN 0885-3185
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mds.28371

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

Autores: Danique Beijer, Maike F Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets
Publicado en: Eur J Neurol, Edición 29(7), 2022, Página(s) 2156-2161, ISSN 1351-5101
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ene.15310

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

Autores: Elke de Boer; Burcu Yaldiz; Anne-Sophie Denommé-Pichon; Leslie Matalonga; Steve Laurie; Wouter Steyaert; Rick de Reuver; Christian Gilissen; Michael Kwint; Rolph Pfundt; Alain Verloes; Michèl A.A.P. Willemsen; Bert B.A. de Vries; A. Vitobello; Tjitske Kleefstra; Lisenka E.L.M. Vissers; Elke de Boer; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne-Sophie Denommé-Pichon; Fei Gao; Christian Gilissen
Publicado en: European Journal of Medical Genetics, Edición 20, 2022, ISSN 1769-7212
Editor: Elsevier BV
DOI: 10.1016/j.ejmg.2021.104402

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

Autores: Yavuz Oktay, Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Ludger Schöls, Ece Sonmezler, Elmasnur Yilmaz, Benjamin Munro, Benjamin Bender, Christoph Kernstock, Sofie Kaemereit, Inga Liepelt, Ana Töpf, Uluc Yis, Steven Laurie, Ahmet Yaramis, Stephan Zuchner, Semra Hiz, Hanns Lochmüller, Rebecca Schüle, Rita Horvath
Publicado en: Journal of Neuromuscular Diseases, Edición 7/3, 2020, Página(s) 301-308, ISSN 2214-3599
Editor: IOS Press
DOI: 10.3233/jnd-200510

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

Autores: 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.
Publicado en: Frontiers in Pediatrics, 2020, ISSN 2296-2360
Editor: Frontiers
DOI: 10.3389/fped.2020.00310

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

Autores: Tudor Groza, Honghan Wu, Marcel E Dinger, Daniel Danis, Coleman Hilton, Anita Bagley, Jon R Davids, Ling Luo, Zhiyong Lu, Peter N Robinson
Publicado en: Bioinformatics, Edición Volume 39, Edición 12, 2023, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btad716

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

Autores: Danique Beijer 1 2 3, Sheila Marte 4, Jiaxin C Li 5 6, Willem De Ridder 1 2 7, Jessie Z Chen 8, Abigail L D Tadenev 5, Kathy E Miers 5, Tine Deconinck 1 9, Richard Macdonell 8, Wilson Marques Jr 10, Peter De Jonghe 1 2 7, Samia L Pratt 5 11, Rebecca Meyer-Schuman 5, Stephan Züchner 3, Anthony Antonellis 4 12, Robert W Burgess 5 6 11, Jonathan Baets 1 2 7
Publicado en: Brain Communication, 2024, ISSN 2632-1297
Editor: Oxford Academic
DOI: 10.1093/braincomms/fcae070

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

Autores: Adriana P. Rebelo; Ilse Eidhof; Vívian Pedigone Cintra; Lena Guillot-Noel; Claudia V. Pereira; Dagmar Timmann; Andreas Traschütz; Andreas Traschütz; Ludger Schöls; Ludger Schöls; Giulia Coarelli; Alexandra Durr; Mathieu Anheim; Christine Tranchant; Bart P.C. van de Warrenburg; Claire Guissart; Michel Koenig; Jack Howell; Carlos T. Moraes; Annette Schenck; Giovanni Stevanin; Stephan Züchner;
Publicado en: Brain, 144,, Edición 50, 2021, Página(s) 1467 - 1481, ISSN 0006-8950
Editor: Oxford University Press
DOI: 10.1093/brain/awab071

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

Autores: Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed, Aisha M Bakhiet, Lena Guillot-Noel, Fatima Abozar, Rawaa Adil, Sara Emad, Rayan Abubaker, Mhammed Alhassan Musallam, Isra Z M Eltazi, Zulfa Omer, Omer M Maaroof, Amal Soussi, Amal Bouzid, Sana Kmiha, Hassen Kamoun, Mustafa A Salih, Ammar E Ahmed, Liena Elsayed, Saber Masmoudi, Giovanni Stevani
Publicado en: Ann Hum Genet, Edición 86(4), 2022, Página(s) 181-194, ISSN 1469-1809
Editor: John Wiley & Sons Ltd/University College London
DOI: 10.1111/ahg.12460

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

Autores: Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro
Publicado en: PLOS ONE, Edición 15/8, 2020, Página(s) e0237803, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0237803

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

Autores: Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Solve-RD SNV-indel working group, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E. L. M. Vissers, Richarda de Voer, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Co
Publicado en: European Journal of Human Genetics, Edición 29, 2021, Página(s) 1337–1347, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-021-00852-7

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

Autores: Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM
Publicado en: Eur J Pediatr., Edición 182(6):2683-2692, 2023, ISSN 0340-6199
Editor: Springer Verlag
DOI: 10.1007/s00431-023-04909-1

Distinct features in adult polyglucosan body disease: a case series

Autores: De Winter J, Cypers G, Jacobs E, Bossche SV, Deconinck T, De Ridder W, Dekeyzer S, Baets J.
Publicado en: Neuromuscular Disorders, Edición 33(2), 2023, Página(s) 148-152, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2022.12.016

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

Autores: Maria S. Falzarano,1,10 Andrea Grilli,2,10 Silvia Zia,3 Mingyan Fang,4 Rachele Rossi,1 Francesca Gualandi,1 Paola Rimessi,1 Reem El Dani,1 Marina Fabris,1 Zhiyuan Lu,4 Wenyan Li,4 Tiziana Mongini,5 Federica Ricci,5 Elena Pegoraro,6 Luca Bello,6 Andrea Barp,7 Valeria A. Sansone,7 Madhuri Hegde,8 Barbara Roda,3,9 Pierluigi Reschiglian,3,9 Silvio Bicciato,2 Rita Selvatici,1 and Alessandra Ferlini1,*
Publicado en: Human Genetics and Genomics Advances, Edición 3, 100054, January 13, 2022, 2022, Página(s) 18, ISSN 2666-2477
Editor: Cell Press Elsevier Inc.
DOI: 10.1016/j.xhgg.2021.100054

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

Autores: Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo
Publicado en: Neurology Genetics, Edición 9(2), 2023, Página(s) e200049, ISSN 2376-7839
Editor: American Academy of Neurology
DOI: 10.1212/nxg.0000000000200049

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

Autores: Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W Rattay, María-Jesús Sobrido, Gi
Publicado en: Mov Disord, Edición 37(6), 2022, Página(s) 1175-1186, ISSN 0885-3185
Editor: John Wiley & Sons Inc.
DOI: 10.1002/mds.28959

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

Autores: Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Publicado en: Frontiers in Neuroscience, Edición 14, 2020, ISSN 1662-453X
Editor: Frontiers
DOI: 10.3389/fnins.2020.00074

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

Autores: 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
Publicado en: Prenatal Diagnosis, Edición 40/8, 2020, Página(s) 972-983, ISSN 0197-3851
Editor: 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

Autores: 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
Publicado en: Gasrtic Cancer, Edición 5/1/2023, 2023, Página(s) 653–666, ISSN 1436-3305
Editor: Springer Nature
DOI: 10.1007/s10120-023-01395-0

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

Autores: 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
Publicado en: Neurology Genetics, Edición 5/6, 2019, Página(s) e374, ISSN 2376-7839
Editor: Wolters Kluwer Health, Inc
DOI: 10.1212/nxg.0000000000000374

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

Autores: 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.
Publicado en: Genetics in Medicine, 2022, ISSN 1098-3600
Editor: 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

Autores: German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski
Publicado en: Mol Genet Genomic Med, Edición 9, 2021, ISSN 2324-9269
Editor: Wiley Periodicals, LLC.
DOI: 10.1002/mgg3.1807

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Autores: 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
Publicado en: Eur J Hum Genet, 2024, ISSN 1018-4813
Editor: Natue Publishing Group
DOI: 10.1038/s41431-024-01637-4

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

Autores: 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
Publicado en: Frontiers in Neurology, Edición 11, 2020, ISSN 1664-2295
Editor: Frontiers Research Foundation
DOI: 10.3389/fneur.2020.569996

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

Autores: Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Publicado en: Neuromuscular Disorders, Edición 30/12, 2020, Página(s) 1008-1048, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2020.11.009

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

Autores: Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Publicado en: Neuromuscular Disorders, Edición 29/12, 2019, Página(s) 980-1018, ISSN 0960-8966
Editor: Elsevier BV
DOI: 10.1016/j.nmd.2019.10.010

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

Autores: Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Publicado en: Neuromuscular Disorders, 2024, ISSN 0960-8966
Editor: 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

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

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Autores: 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
Publicado en: 2023
Editor: 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

Autores: Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici and Alessandra Ferlini
Publicado en: Frontiers in Neurology, Edición Front. Neurol. 14:1288721, 2024
Editor: Frontiers
DOI: 10.3389/fneur.2023.1288721

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

Autores: 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
Publicado en: European Society of Human Genetics Conference 2020, Edición P22.61.A, 2020
Editor: EURORDIS-Rare Diseases Europe

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

Autores: 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
Publicado en: European Conference on Rare Diseases 2020, Edición P031, 2020
Editor: EURORDIS-Rare Diseases Europe

Derechos de propiedad intelectual

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Número de solicitud/publicación: 20 18077133
Fecha: 2018-10-05
Solicitante(s): UNIVERSITEIT ANTWERPEN

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Número de solicitud/publicación: 20 18077133
Fecha: 2018-10-05
Solicitante(s): UNIVERSITEIT ANTWERPEN

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