CORDIS - EU research results
CORDIS

Solving the unsolved Rare Diseases

Deliverables

3.500 collected data sets from associated ERNs and undiagnosed disease programmes

Collect standardized phenotypic and genotypic information of large number of undiagnosed RD from associated ERNs and undiagnosed disease programmes.

Report on new matchmaking strategies

Work out best practices for evaluation and reporting of results

First training for ePAGs delivered

Training ERN patient representatives in scientific innovation and genome diagnostics.

Guidelines for exome/genome re-analysis

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

Publication: Synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS

Publication on the synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS

All foundational standards selected and implemented across the project

Provide all foundational standards selected and implemented across the project.

Second training for ePAGs delivered

Training ERN patient representatives in scientific innovation and genome diagnostics.

Deployment of PhenoTips custom forms according to the ERNs specifications

In this task we will make the necessary adaptations to PhenoTips allowing for the collection of phenotype data from unsolved cases coming from ERNs. The requirements for the templates will be prepared by the ERNs.

Central RD-Connect database serving Solve-RD, including user authentication and authorization

Database and data sharing aspects of the project.

Metadata catalog operational, with initial content

Metadata aspects of the project.

Guidelines for molecular genetics of rare disorders

The final guideline and its impact will be presented at international meetings published in the scientific literature and via digital media

Bespoke Phenotips frontends for associated ERNs and undiagnosed disease programmes

Bespoke Phenotips frontends for collection of clinical information of unsolved patients from associated ERNs and undiagnosed disease programmes will be created.

Treatabolome database

The Treatabolome: flagging treatable genes and variants. The database will be connected to the RD-Connect genomic analysis platform and made accessible as part of the real-time analysis of the patients undergoing sequencing or exome analysis within Solve-RD as a proof of concept for the utility of the approach.

Guidelines for collection of experimental data

Good practice guidance will be provided in order to ensure the quality of data.

Publication: EBCD findings in at least 2 different HCPs including in one ERN

Publication of the EBCD method used within the initial two ERNs in order to provide the opportunity for the other 22 ERNs to adopt the findings or follow a similar process to co-design their own intervention or services.

Solve-RD communication and dissemination tools

Solve-RD communication and dissemination tools like press releases, research briefs, research summary documents, policy brief, newsletter, publication in popular press, peer-reviewed journals, wide-audience journals with a high impact factor, publication of papers, reviews on different topics, organisation of symposia and presentation meetings, outreach to patient community and health care provider (networking).

Training modules, guidance document and online help module for collection of phenotypes

Training and good practice guidance will be provided in order to ensure the quality of data at the source, based on users’ guides already in place around HPO and PhenoTips

4 workshops, videoconferences and jamborees for hands-on discussion on diagnostic hypothesis

Workshops/jamborees and videoconferences for ultrarare and « unsolvable symptoms » will be organized in order to engage ERNs in the phenotypic delineation of these RD, and to potentially elaborate and discuss diagnostic hypothesis derived from the ontological approach for unsolvable cases.

Guidelines for Quality Control metrics

Guidelines for Quality Control metrics provided by the Data Analyses Task Force.

Complete Solve-RD bioinformatics platform operational

Provide complete Solve-RD bioinformatics platform.

Publications

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Author(s): 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.
Published in: Genome Med., Issue 15(1):34, 2023, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-023-01183-6

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

Author(s): 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
Published in: Movement Disorders, Issue Volume 38, Issue 2, 2022, Page(s) Pages 347-353, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.29280

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author(s): 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
Published in: Genet Med., Issue (10):2051-2064, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.06.007

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Author(s): 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
Published in: European Journal of Human Genetics, Issue 31(6), 2023, Page(s) 648-653, ISSN 1018-4813
Publisher: 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

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

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

Author(s): 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
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01246-2

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

Author(s): 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
Published in: HGG Adv., Issue 4(3):100200, 2023, ISSN 2666-2477
Publisher: 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.

Author(s): 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
Published in: Cancers (Basel), 2021, ISSN 2072-6694
Publisher: 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

Author(s): 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,
Published in: Nat Genet, Issue 55(7):1149-1163, 2023, ISSN 1061-4036
Publisher: 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

Author(s): 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
Published in: Transl Psychiatry., Issue 12(1):421, 2022, ISSN 2158-3188
Publisher: 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)

Author(s): 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
Published in: European Journal of Human Genetics, Issue 23, 2021, Page(s) 1348–1353, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: Genetics in Medicine, Issue Vol. 25, Issue 4, 19 Jan 2023, 2023, Page(s) 15, ISSN 1098-3600
Publisher: 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

Author(s): 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
Published in: Acta Neuropathol., Issue 146(2), 2023, Page(s) 353-368, ISSN 0001-6322
Publisher: Springer Verlag
DOI: 10.1007/s00401-023-02579-9

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Author(s): 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
Published in: The American Journal of Human Genetics, Issue Volume 108, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

Author(s): Tedesco B, Vendredy L, Timmerman V, Poletti A
Published in: Autophagy, Issue 19(6), 2023, Page(s) 1619-1641, ISSN 1554-8627
Publisher: 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

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

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

Author(s): 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
Published in: Annals of Neurology, Issue Volume94, Issue3, 2023, Page(s) Pages 470-485, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26712

GA4GH Phenopackets: A Practical Introduction

Author(s): 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
Published in: Adv Genet (Hoboken), 2022, Page(s) 2200016, ISSN 2641-6573
Publisher: 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

Author(s): 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.
Published in: EBioMedicine, Issue 92:104621, 2023, ISSN 2352-3964
Publisher: Elsevier BV
DOI: 10.1016/j.ebiom.2023.104621

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

Author(s): 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
Published in: American Journal of Medical Genetics, Issue 191(3), 2022, Page(s) 823-830, ISSN 1552-4833
Publisher: John Wiley & Sons, Inc.
DOI: 10.1002/ajmg.a.63061

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

Author(s): 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)
Published in: Movement Disorders Journal, Issue Volume 37, Issue 6, 2022, Page(s) p. 1125-1130, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.29032

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

Author(s): Enzo Cohen, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, 2021, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2021.11.004

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

Author(s): 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.
Published in: Eur J Hum Genet., Issue (1):81-88, 2023, ISSN 1018-4813
Publisher: 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

Author(s): 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.
Published in: J Neurol Neurosurg Psychiatry, Issue 2023-331490, 2023, ISSN 0022-3050
Publisher: BMJ Publishing Group
DOI: 10.1136/jnnp-2023-331490

Towards a European health research and innovation cloud (HRIC)

Author(s): 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
Published in: Genome Medicine, Issue 12/1, 2020, ISSN 1756-994X
Publisher: 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

Author(s): 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
Published in: Advanced Genetics, Issue 1/1, 2020, Page(s) e10023, ISSN 2641-6573
Publisher: Wiley
DOI: 10.1002/ggn2.10023

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

Author(s): 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
Published in: Annals of Clinical and Translational Neurology, Issue 2022 March, 2022, Page(s) 326–338, ISSN 2328-9503
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518

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

Author(s): 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
Published in: Life Sci Alliance, Issue 4(11), 2021, ISSN 2575-1077
Publisher: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057

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

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

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

Author(s): 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
Published in: Brain Pathology, Issue e13200, 2023, Page(s) e13200, ISSN 1015-6305
Publisher: International Society of Neuropathology
DOI: 10.1111/bpa.13200

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

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

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

Author(s): 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
Published in: Mol Cell, Issue 81(12), 2021, Page(s) 2640-2655, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2021.04.028

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

Author(s): May Yung Tiet, Zhiyuan Lin, Fei Gao, Matthew James Jennings, Rita Horvath.
Published in: Journal of Neuromuscular Diseases, 2021, ISSN 1877-7171
Publisher: IOS Press
DOI: 10.3233/jnd-210715

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

Author(s): 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
Published in: J Neurol Neurosurg Psychiatry, Issue 93(5), 2022, Page(s) 530-538, ISSN 0022-3050
Publisher: BMJ Publishing Group
DOI: 10.1136/jnnp-2021-328483

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

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

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

Author(s): Garcia-Pelaez J, Barbosa-Matos R, Gullo I, Carneiro F, Oliveira C
Published in: Mol Oncol, 2021, ISSN 1878-0261
Publisher: Wiley
DOI: 10.1002/1878-0261.12948

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

Author(s): 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
Published in: The Journal of Molecular Diagnostics, Issue 24, 2022, Page(s) 529-542, ISSN 1525-1578
Publisher: 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

Author(s): 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
Published in: Journal of Nephrology, 2021, Page(s) 1855–1874, ISSN 1724-6059
Publisher: Springer Nature
DOI: 10.1007/s40620-021-01048-4

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

Author(s): Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA.
Published in: European Journal of Human Genetics, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group

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

Author(s): 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
Published in: Ann Clin Transl Neurol, Issue 8(4), 2021, Page(s) 774–789, ISSN 2328-9503
Publisher: Wiley Periodicals LLC
DOI: 10.1002/acn3.51315

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

Author(s): 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
Published in: HGG Advances, Issue Vol. 4, Issue 2, 13 Apr 2023, 2023, Page(s) 19, ISSN 2666-2477
Publisher: Elsevier
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Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients

Author(s): 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
Published in: Clinical Kidney Journal, 2021, Page(s) 1545–1551, ISSN 2048-8513
Publisher: Oxford University Press
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Author(s): 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
Published in: Am J Hum Genet, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Author(s): 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
Published in: Journal of Neurology, Issue 270(10), 2023, Page(s) 5057-5063, ISSN 0340-5354
Publisher: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-023-11816-w

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

Author(s): 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
Published in: Human Genomics, Issue 17, 03 May 2023, 2023, Page(s) 9, ISSN 1479-7364
Publisher: Springer Nature
DOI: 10.1186/s40246-023-00485-5

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

Author(s): 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.
Published in: Nature, Issue 583/7814, 2020, Page(s) 96-102, ISSN 0028-0836
Publisher: 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

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Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Author(s): 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
Published in: Epilepsia, Issue 2021;62, 2021, Page(s) 1293–1305, ISSN 0013-9580
Publisher: Blackwell Publishing Inc.
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Author(s): 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.
Published in: Orphanet J Rare Dis, 2022, ISSN 1750-1172
Publisher: BioMed Central
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Author(s): 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.
Published in: Ann Hum Genet, Issue 85(5), 2021, Page(s) 186-195, ISSN 1469-1809
Publisher: John Wiley & Sons Ltd/University College London
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Recommendations for whole genome sequencingin diagnostics for rare diseases

Author(s): 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
Published in: European Journal of Human Genetics, 2022, Page(s) 5, ISSN 1476-5438
Publisher: Nature Publishing Group
DOI: 10.1038/s41431-022-01113-x

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

Author(s): 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
Published in: VOLUME=30;ISSUE=2;STARTPAGE=170;ENDPAGE=177;ISSN=1018-4813;TITLE=European Journal of Human Genetics, Issue 31, 2022, ISSN 1018-4813
Publisher: 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

Author(s): 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.
Published in: American Journal of Medical Genetics, 2021, ISSN 1552-4868
Publisher: Wiley-Liss Inc

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

Author(s): Luciano Merlini; Patrizia Sabatelli; Manuela Antoniel; Valeria Carinci; Fabio Niro; Giuseppe Monetti; Annalaura Torella; Teresa Giugliano; Cesare Faldini; Vincenzo Nigro
Published in: Skeletal Muscle, Issue 17, 2019, Page(s) 1-7, ISSN 2044-5040
Publisher: BioMed Central
DOI: 10.1186/s13395-019-0199-9

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

Author(s): Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R.
Published in: Stem Cell Research, 2019, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2020.102059

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

Author(s): 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
Published in: European Journal of Human Genetics, Issue 29, 2021, Page(s) 1325–1331, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: EMBO J, 2021, ISSN 0261-4189
Publisher: Nature Publishing Group
DOI: 10.15252/embj.2019103811

Delineating MT-ATP6 -associated disease

Author(s): 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
Published in: Neurology Genetics, Issue 6/1, 2019, Page(s) e393, ISSN 2376-7839
Publisher: Wolters Kluwer
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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Author(s): 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
Published in: JCI Insight, Issue 6(14), 2021, ISSN 2379-3708
Publisher: 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.

Author(s): 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.
Published in: Prenatal Diagnosis, 40(8), 972 - 983. Wiley, Issue 27, 2021, ISSN 0197-3851
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717

The Treatabolome, an emerging concept

Author(s): Gisèle Bonne
Published in: Journal of Neuromuscular Diseases, 2021, Page(s) 337–339, ISSN 1877-7171
Publisher: IOS Press
DOI: 10.3233/jnd-219003

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

Author(s): Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets
Published in: Ann Neurol, Issue 91(2), 2022, Page(s) 298-299, ISSN 0364-5134
Publisher: 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

Author(s): 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
Published in: Front Neurol, Issue 12, 2021, ISSN 1664-2295
Publisher: Frontiers Research Foundation
DOI: 10.3389/fneur.2021.677551

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

Author(s): 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.
Published in: "European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00900-2⟩", Issue 23, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00900-2

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

Author(s): 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
Published in: American Journal of Human Genetics, Issue 110(8), 2023, Page(s) 1377-1393, ISSN 0002-9297
Publisher: 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

Author(s): 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
Published in: Eur J Hum Genet, 2021, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1038/s41431-021-00853-6

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

Author(s): 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
Published in: eBioMedicine, Issue Volume 102, 2024, ISSN 2352-3964
Publisher: Elsevier BV
DOI: 10.1016/j.ebiom.2024.105076

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

Author(s): 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.
Published in: Acta Neuropathol., Issue 145(1), 2022, Page(s) 127-143, ISSN 0001-6322
Publisher: Springer Verlag
DOI: 10.1007/s00401-022-02510-8

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

Author(s): David Mengel, Andreas Traschütz, Selina Reich, Alejandra Leyva-Gutiérrez, Friedemann Bender, Stefan Hauser, Tobias B. Haack, and Matthis Synofzik.
Published in: J Neurol, Issue 268, 2021, Page(s) 3845–3851, ISSN 0340-5354
Publisher: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-021-10524-7

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

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

Author(s): Marouane A, Olde Keizer RACM, Frederix GWJ, Vissers LELM, de Boode WP, van Zelst-Stams WAG.
Published in: European Journal of Pedriatrics, 2022, ISSN 0340-6199
Publisher: Springer Verlag
DOI: 10.1007/s00431-021-04213-w

Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a 'Treatabolome'

Author(s): Alexander Manta; Alexander Manta; Sally Spendiff; Hanns Lochmüller; Rachel Thompson
Published in: Journal of Neuromuscular Diseases, Issue 11, 2021, ISSN 1877-7171
Publisher: 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

Author(s): 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.
Published in: J Pathol., 2022, ISSN 0022-3417
Publisher: John Wiley & Sons Inc.
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Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes

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

Author(s): 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,
Published in: Nature, Issue 586/7831, 2020, Page(s) 757-762, ISSN 0028-0836
Publisher: Nature Publishing Group
DOI: 10.1038/s41586-020-2832-5

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

Author(s): 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
Published in: AJHG, 2018, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.002

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

Author(s): Jackson A, Banka S, Stewart H; Genomics England Research Consortium, Robinson H, Lovell S, Clayton-Smith J.
Published in: American Journal of Medical Genetics Part A, 2021, ISSN 1552-4833
Publisher: Wiley Periodicals, LLC.
DOI: 10.1002/ajmg.a.62370

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

Author(s): 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
Published in: Frontiers in Genetics, Issue 11, 2020, ISSN 1664-8021
Publisher: Frontiers Media
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Author(s): 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,
Published in: Neurology Genetics, Issue Feb 2021, 7 (1) e536, 2021, Page(s) 14, ISSN 2376-7839
Publisher: American Academy of Neurology
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Presence of Genetic Variants Among Young Men With Severe COVID-19

Author(s): 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
Published in: JAMA, 2020, ISSN 0098-7484
Publisher: American Medical Association
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Author(s): 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
Published in: Brain, Issue 144(5), 2021, Page(s) 1422–1434, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab041

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

Author(s): 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
Published in: N Engl J Med, Issue 388:128-141, 2023, ISSN 0028-4793
Publisher: Massachusetts Medical Society
DOI: 10.1056/nejmoa2207406

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

Author(s): 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
Published in: Am J Med Genet C Semin Med Genet, 2022, Page(s) 231-242, ISSN 1552-4876
Publisher: Wiley Periodicals, LLC
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Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

Author(s): Olde Keizer RACM, Henneman L, Ploos van Amstel JK, Vissers LELM, Frederix GWJ.
Published in: Journal of Medical Economics, 2022, ISSN 1369-6998
Publisher: 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.

Author(s): 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.
Published in: European Journal of Medical Genetics, 2022, ISSN 1769-7212
Publisher: Elsevier BV

The Human Phenotype Ontology in 2021

Author(s): 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
Published in: Nucleic Acids Research, 2021, Vol. 49, Issue 2021 Jan 8, 2021, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkaa1043

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

Author(s): 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
Published in: European Journal of Human Genetics, 2023, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-023-01478-7

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

Author(s): Maria Elena Onore,Annalaura Torella,Francesco Musacchia,Paola D’Ambrosio,Mariateresa Zanobio, Francesca Del Vecchio Blanco,Giulio Piluso, Vincenzo Nigro
Published in: Genes, 2021, ISSN 2073-4425
Publisher: 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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 109, 2022, ISSN 0002-9297
Publisher: 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

Author(s): 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
Published in: Movement Disorders, Issue Volume 38, Issue 8, 2023, Page(s) 1557-1558, ISSN 0885-3185
Publisher: 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

Author(s): 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
Published in: Genome Medicine, 2022, ISSN 1756-994X
Publisher: 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

Author(s): 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
Published in: Brain, Issue 144(8), 2021, Page(s) 2471-2485, ISSN 0006-8950
Publisher: 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

Author(s): 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
Published in: Nature genetics, Issue Volume 56, Issue 3, 2024, Page(s) 395-4, ISSN 1061-4036
Publisher: 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

Author(s): 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
Published in: Neurology Genetics, 2021, Page(s) e619, ISSN 2376-7839
Publisher: American Accademy of Neurology
DOI: 10.1212/nxg.0000000000000619

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

Author(s): 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.
Published in: Eur J Hum Genet, Issue 29, 2021, Page(s) 1332–1336, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: Eur J Med Genet, 2022, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1016/j.ejmg.2022.104475

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

Author(s): 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.
Published in: VOLUME=42;ISSUE=4;STARTPAGE=445;ENDPAGE=459;ISSN=1059-7794;TITLE=Human mutation, Issue 16, 2021, ISSN 1098-1004
Publisher: John Wiley & Sons
DOI: 10.1002/humu.24176

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

Author(s): Danique Beijer, Brent L. Fogel, Sergi Beltran, Matt C. Danzi, Andrea H. Németh, Stephan Züchner, Matthis Synofzik & AGI Ataxia NGS genomics, platforms Working Group
Published in: The Cerebellum, Issue 3/4/2023, 2023, ISSN 1473-4230
Publisher: 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.

Author(s): 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.
Published in: European Journal of Human Genetics, 2022, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: Journal of Community Genetics, 2022, ISSN 1868-310X
Publisher: 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

Author(s): 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
Published in: Orphanet Journal of Rare Diseases, Issue 15/1, 2020, ISSN 1750-1172
Publisher: 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

Author(s): 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
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: 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

Author(s): 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
Published in: European Journal of Human Genetics, 2020, Page(s) 1602–1614, ISSN 1476-5438
Publisher: Springer Nature
DOI: 10.1038/s41431-020-0691-z

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

Author(s): 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.
Published in: Clinical Genetics, 2021, ISSN 1399-0004
Publisher: 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

Author(s): 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.
Published in: Elife, Issue 11:e78469, 2022, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.78469

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

Author(s): 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
Published in: Am J Hum Genet., Issue 110(5), 2023, Page(s) 790-808, ISSN 0002-9297
Publisher: 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

Author(s): Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca
Published in: Neurology, Issue 97(23), 2021, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000012962

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

Author(s): 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
Published in: Brain Communications, Issue 2/2, 2020, ISSN 2632-1297
Publisher: Oxford University Press
DOI: 10.1093/braincomms/fcaa122

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

Author(s): Iruzubieta, Pablo Damborenea, Alberto Ioghen, Mihaela Bajew, Simon Fernandez-Torrón, Roberto Töpf, Ana Herrero-Reiriz, Álvaro Epure, Diana Vill, Katharina Hernández-Laín, Aurelio Manterola, María Azkargorta, Mikel Pikatza-Menoio, Oihane Pérez-Fernandez, Laura García-Puga, Mikel Gaina, Gisela Bastian, Alexandra Streata, Ioana Walter, Maggie C Müller-Felber, Wolfgang Thiele, Simone Moragón
Published in: Brain, Issue Volume 119, Issue 1, 2024, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awae046

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

Author(s): 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,
Published in: American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press

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

Author(s): 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
Published in: American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.04.008

Wnt genes in colonic polyposis predisposition

Author(s): 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.
Published in: Genes & Diseases, 2022, ISSN 2352-4820
Publisher: Elsevier
DOI: 10.1016/j.gendis.2022.12.002

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

Author(s): Arianna De Laurentiis; Claudia Ciaccio; Alessandra Erbetta; Michele Pinelli; Vincenzo Nigro; Chiara Pantaleoni; Stefano D'Arrigo
Published in: American Journal of Medical Genetics, 2023, ISSN 1552-4833
Publisher: 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

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

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Author(s): 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
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: 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

Author(s): 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
Published in: The Journal of Molecular Diagnostics, Issue 22/9, 2020, Page(s) 1205-1215, ISSN 1525-1578
Publisher: 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."

Author(s): 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.
Published in: Journal of Inherited Metabolic Disease, 2022, ISSN 0141-8955
Publisher: Kluwer Academic Publishers

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

Author(s): Antonio Atalaia , Rabah Ben Yaou, Karim Wahbi, Annachiara De Sandre-Giovannoli, Corinne Vigouroux, Gisèle Bonne
Published in: Journal of Neuromuscular Diseases, 2021, Page(s) 337-339, ISSN 1877-7171
Publisher: IOS Press
DOI: 10.3233/jnd-200596

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

Author(s): 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
Published in: British Journal of Dermatology, 2022, ISSN 0007-0963
Publisher: Blackwell Publishing Inc.
DOI: 10.1093/bjd/ljac026

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

Author(s): Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Published in: Neuron, Issue 101/4, 2019, Page(s) 560-583, ISSN 0896-6273
Publisher: Cell Press
DOI: 10.1016/j.neuron.2019.01.049

The European Genome-phenome Archive in 2021

Author(s): 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
Published in: Nucleic Acids Research, Issue 50/D1, 2021, Page(s) D980–D987, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkab1059

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

Author(s): Sebastian Köhler
Published in: Database, Issue 2018/1, 2018, ISSN 1758-0463
Publisher: Oxford University Press
DOI: 10.1093/database/bay026

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

Author(s): Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Published in: Human Molecular Genetics, Issue 28/4, 2018, Page(s) 615-627, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddy352

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

Author(s): 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
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-018-07953-w

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

Author(s): Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Published in: Journal of Neurology, Neurosurgery & Psychiatry, Issue 90/1, 2018, Page(s) 58-67, ISSN 0022-3050
Publisher: 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

Author(s): 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
Published in: Immunity, Issue 50/5, 2019, Page(s) 1218-1231.e5, ISSN 1074-7613
Publisher: 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

Author(s): 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
Published in: European Journal of Human Genetics, Issue 26/11, 2018, Page(s) 1623-1634, ISSN 1018-4813
Publisher: 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

Author(s): Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Published in: Autophagy, Issue 15/6, 2019, Page(s) 1051-1068, ISSN 1554-8627
Publisher: Landes Bioscience
DOI: 10.1080/15548627.2019.1569930

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

Author(s): Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Published in: Emerging Topics in Life Sciences, Issue 3/1, 2019, Page(s) 19-37, ISSN 2397-8554
Publisher: Portland Press
DOI: 10.1042/etls20180100

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

Author(s): Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published in: Orphanet Journal of Rare Diseases, Issue 13/1, 2018, ISSN 1750-1172
Publisher: 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

Author(s): Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Published in: Expert Review of Neurotherapeutics, Issue 19/5, 2019, Page(s) 409-415, ISSN 1473-7175
Publisher: 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

Author(s): 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
Published in: Neurology, Issue 92/23, 2019, Page(s) e2679-e2690, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
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Update on the Genetics of Spastic Paraplegias

Author(s): Maxime Boutry, Sara Morais, Giovanni Stevanin
Published in: Current Neurology and Neuroscience Reports, Issue 19/4, 2019, ISSN 1528-4042
Publisher: Current Science Inc.
DOI: 10.1007/s11910-019-0930-2

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 104/4, 2019, Page(s) 767-773, ISSN 0002-9297
Publisher: 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?

Author(s): María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Published in: Orphanet Journal of Rare Diseases, Issue 14/1, 2019, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-018-0985-1

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

Author(s): 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
Published in: Nucleic Acids Research, Issue 47/D1, 2018, Page(s) D1018-D1027, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gky1105

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

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

Phenotero: Annotate as you write

Author(s): Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Published in: Clinical Genetics, Issue 95/2, 2019, Page(s) 287-292, ISSN 0009-9163
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/cge.13471

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Author(s): Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
Published in: Nucleic Acids Research, Issue 47/W1, 2019, Page(s) W106-W113, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkz327

Long-Read Sequencing Emerging in Medical Genetics

Author(s): Tuomo Mantere, Simone Kersten, Alexander Hoischen
Published in: Frontiers in Genetics, Issue 10, 2019, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2019.00426

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

Author(s): 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
Published in: Genome Medicine, Issue 11/1, 2019, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-019-0649-3

Somatic mutational signatures in polyposis and colorectal cancer

Author(s): Judith E. Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M. de Voer
Published in: Molecular Aspects of Medicine, 2019, ISSN 0098-2997
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.mam.2019.05.002

Small heat shock proteins in neurodegenerative diseases.

Author(s): Vendredy, Leen; Adriaenssens, Elias; Timmerman, Vincent
Published in: Cell stress and chaperones, Issue 6, 2020, ISSN 1466-1268
Publisher: Springer Nature
DOI: 10.1007/s12192-020-01101-4

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

Author(s): 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
Published in: Autophagy, Issue 19(8), 2023, Page(s) 2217-2239, ISSN 1554-8627
Publisher: 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

Author(s): Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Published in: BMC Medical Genetics, Issue 20/1, 2019, ISSN 1471-2350
Publisher: 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

Author(s): 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
Published in: EMBO Molecular Medicine, Issue 12/7, 2020, ISSN 1757-4676
Publisher: 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

Author(s): Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets
Published in: Neuromuscul Disord, Issue 31(11), 2021, Page(s) 1154-1160, ISSN 0960-8966
Publisher: 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

Author(s): 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
Published in: Annals of Neurology, Issue 88/2, 2020, Page(s) 251-263, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.25751

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

Author(s): 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
Published in: Brain, 2022, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awac055

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

Author(s): 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
Published in: Acta Neuropathologica, 2021, Page(s) 375–393, ISSN 1432-0533
Publisher: 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

Author(s): 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
Published in: The American Journal of Human Genetics, Issue 107/1, 2020, Page(s) 164-172, ISSN 0002-9297
Publisher: 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

Author(s): 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
Published in: Hum Mutat, 2022, ISSN 1098-1004
Publisher: Wiley Periodicals, LLC
DOI: 10.1002/humu.24333

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Author(s): Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC.
Published in: Developmental Medicine & Child Neurology, 2021, ISSN 0012-1622
Publisher: Mac Keith Press
DOI: 10.1111/dmcn.14989

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

Author(s): 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,
Published in: Movement Disorders, Issue Volume 38, Issue 6, 2023, Page(s) Pages 1109-1112, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Author(s): 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
Published in: Brain, Issue 145, 2022, Page(s) 1507–1518, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab395

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

Author(s): Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
Published in: Scientific Reports, Issue 10/1, 2020, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-020-65664-z

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Author(s): 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
Published in: Neurology Genetics, Issue 6/1, 2019, Page(s) e384, ISSN 2376-7839
Publisher: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000384

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

Author(s): 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
Published in: Neurology, Issue Mar 2; 96(9), 2021, Page(s) e1369–e1382, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000011528

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

Author(s): Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
Published in: Stem Cell Research, Issue 35, 2019, Page(s) 101336, ISSN 1873-5061
Publisher: Elsevier
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Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Author(s): Frédéric Darios, Giovanni Stevanin
Published in: Journal of Molecular Biology, Issue 432/8, 2020, Page(s) 2714-2734, ISSN 0022-2836
Publisher: Academic Press
DOI: 10.1016/j.jmb.2020.02.033

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

Author(s): 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
Published in: Brain, Issue 146(7), 2023, Page(s) 2885-2896, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awac475

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

Author(s): 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.
Published in: BRAIN, 2022, Page(s) 145(3):1029-1037, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab386

Long-read trio sequencing of individuals with unsolved intellectual disability

Author(s): 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
Published in: European Journal of Human Genetics, 2020, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-020-00770-0

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Author(s): 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
Published in: European journal of Human Genetics, Issue 32, 23 November 2023, 2023, Page(s) 182–189, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: Cell Genomics, Issue 2/8/2023, 2023, ISSN 2666-979X
Publisher: 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

Author(s): 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
Published in: Human Mutation, Issue 17/02/2022, 2022, Page(s) 659-667, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.24353

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

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

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

Author(s): 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
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-019-12620-9

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

Author(s): 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
Published in: Journal of Neurology, Issue Volume 271, 2024, Page(s) 2886–2892, ISSN 0340-5354
Publisher: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-024-12229-z

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

Author(s): 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
Published in: Nature Cell Biology, Issue 25(3), 2023, Page(s) 467-480, ISSN 1465-7392
Publisher: Nature Publishing Group
DOI: 10.1038/s41556-022-01074-9

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

Author(s): 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
Published in: The American Journal of Human Genetics, 2021, ISSN 1537-6605
Publisher: Cell Press
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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes

Author(s): 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
Published in: Genet Med., Issue 25(3):100345., 2023, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Author(s): 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,
Published in: Nat Genet., Issue 55(9):1598-1607, 2023, ISSN 1061-4036
Publisher: Nature Publishing Group
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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Author(s): 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
Published in: Annals of Neurology, Issue 88/1, 2020, Page(s) 18-32, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
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The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Author(s): Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, 2023, ISSN 0960-8966
Publisher: Elsevier BV
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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Author(s): 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,
Published in: Brain, Issue 142/6, 2019, Page(s) 1561-1572, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awz102

The GA4GH Phenopacket schema defines a computable representation of clinical data

Author(s): 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
Published in: Nature Biotechnology, Issue VOL 40, June 2022, 2022, Page(s) 815–820, ISSN 1087-0156
Publisher: Nature Publishing Group
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Defects in Axonal Transport in Inherited Neuropathies.

Author(s): Beijer, Danique; Sisto, Angela; Van Lent, Jonas; Baets, Jonathan; Timmerman, Vincent
Published in: Journal of Neuromuscular Diseases, Issue 11, 2019, Page(s) 401–419, ISSN 2214-3599
Publisher: IOS Press
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Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study

Author(s): 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
Published in: Annals of Neurology, Issue Volume 91, Issue 1, 2022, Page(s) p. 33-47, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Author(s): 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,
Published in: Nature communications, 2023, ISSN 2041-1723
Publisher: 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

Author(s): 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.
Published in: Nucleic Acids Res., Issue 50(17):e97, 2022, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkac511

RNF170 ‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

Author(s): 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
Published in: Movement Disorders, 2020, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.28371

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

Author(s): 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
Published in: Eur J Neurol, Issue 29(7), 2022, Page(s) 2156-2161, ISSN 1351-5101
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/ene.15310

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

Author(s): 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
Published in: European Journal of Medical Genetics, Issue 20, 2022, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1016/j.ejmg.2021.104402

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

Author(s): 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
Published in: Journal of Neuromuscular Diseases, Issue 7/3, 2020, Page(s) 301-308, ISSN 2214-3599
Publisher: IOS Press
DOI: 10.3233/jnd-200510

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

Author(s): 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.
Published in: Frontiers in Pediatrics, 2020, ISSN 2296-2360
Publisher: Frontiers
DOI: 10.3389/fped.2020.00310

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

Author(s): Tudor Groza, Honghan Wu, Marcel E Dinger, Daniel Danis, Coleman Hilton, Anita Bagley, Jon R Davids, Ling Luo, Zhiyong Lu, Peter N Robinson
Published in: Bioinformatics, Issue Volume 39, Issue 12, 2023, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btad716

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

Author(s): 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;
Published in: Brain, 144,, Issue 50, 2021, Page(s) 1467 - 1481, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab071

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

Author(s): 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
Published in: Ann Hum Genet, Issue 86(4), 2022, Page(s) 181-194, ISSN 1469-1809
Publisher: 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

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

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

Author(s): 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
Published in: European Journal of Human Genetics, Issue 29, 2021, Page(s) 1337–1347, ISSN 1018-4813
Publisher: 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

Author(s): 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
Published in: Eur J Pediatr., Issue 182(6):2683-2692, 2023, ISSN 0340-6199
Publisher: Springer Verlag
DOI: 10.1007/s00431-023-04909-1

Distinct features in adult polyglucosan body disease: a case series

Author(s): De Winter J, Cypers G, Jacobs E, Bossche SV, Deconinck T, De Ridder W, Dekeyzer S, Baets J.
Published in: Neuromuscular Disorders, Issue 33(2), 2023, Page(s) 148-152, ISSN 0960-8966
Publisher: 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

Author(s): 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,*
Published in: Human Genetics and Genomics Advances, Issue 3, 100054, January 13, 2022, 2022, Page(s) 18, ISSN 2666-2477
Publisher: Cell Press Elsevier Inc.
DOI: 10.1016/j.xhgg.2021.100054

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

Author(s): Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo
Published in: Neurology Genetics, Issue 9(2), 2023, Page(s) e200049, ISSN 2376-7839
Publisher: American Academy of Neurology
DOI: 10.1212/nxg.0000000000200049

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

Author(s): 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
Published in: Mov Disord, Issue 37(6), 2022, Page(s) 1175-1186, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.28959

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

Author(s): Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Published in: Frontiers in Neuroscience, Issue 14, 2020, ISSN 1662-453X
Publisher: 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

Author(s): 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
Published in: Prenatal Diagnosis, Issue 40/8, 2020, Page(s) 972-983, ISSN 0197-3851
Publisher: 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

Author(s): 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
Published in: Gasrtic Cancer, Issue 5/1/2023, 2023, Page(s) 653–666, ISSN 1436-3305
Publisher: Springer Nature
DOI: 10.1007/s10120-023-01395-0

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

Author(s): 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
Published in: Neurology Genetics, Issue 5/6, 2019, Page(s) e374, ISSN 2376-7839
Publisher: Wolters Kluwer Health, Inc
DOI: 10.1212/nxg.0000000000000374

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

Author(s): 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.
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: 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

Author(s): German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski
Published in: Mol Genet Genomic Med, Issue 9, 2021, ISSN 2324-9269
Publisher: Wiley Periodicals, LLC.
DOI: 10.1002/mgg3.1807

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

Author(s): 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
Published in: Frontiers in Neurology, Issue 11, 2020, ISSN 1664-2295
Publisher: Frontiers Research Foundation
DOI: 10.3389/fneur.2020.569996

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

Author(s): Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, Issue 30/12, 2020, Page(s) 1008-1048, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2020.11.009

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

Author(s): Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, Issue 29/12, 2019, Page(s) 980-1018, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2019.10.010

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

Author(s): Te Paske IBAW, Mensenkamp AR, Neveling K; ERN-GENTURIS Lynch-Like Working Group; Hoogerbrugge N, Ligtenberg MJL, De Voer RM.
Published in: 2022
Publisher: Elsevier
DOI: 10.1053/j.gastro.2022.08.041

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Author(s): 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
Published in: 2023
Publisher: 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

Author(s): Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici and Alessandra Ferlini
Published in: Frontiers in Neurology, Issue Front. Neurol. 14:1288721, 2024
Publisher: Frontiers
DOI: 10.3389/fneur.2023.1288721

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

Author(s): 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
Published in: European Society of Human Genetics Conference 2020, Issue P22.61.A, 2020
Publisher: EURORDIS-Rare Diseases Europe

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

Author(s): 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
Published in: European Conference on Rare Diseases 2020, Issue P031, 2020
Publisher: EURORDIS-Rare Diseases Europe

Intellectual Property Rights

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Application/Publication number: 20 18077133
Date: 2018-10-05

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