Skip to main content

Solving the unsolved Rare Diseases

Deliverables

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.

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.

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.

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

Guidelines for Quality Control metrics

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

Searching for OpenAIRE data...

Publications

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Author(s): Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M
Published in: American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.09.007

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

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Author(s): Andrea Cortese, Yi Zhu, Adriana P. Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna M. E. Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A. Haridy, Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E.
Published in: Nature Genetics, 52/5, 2020, Page(s) 473-481, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-020-0615-4

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

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, 23, 2021, Page(s) 1348–1353, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00851-8

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, Volume 108, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

Author(s): van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA.
Published in: Scientific Data, 2022, ISSN 2052-4463
Publisher: Springer Nature
DOI: 10.1038/s41597-022-01265-x

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, 32(2), 2022, Page(s) 83–94, ISSN 2159-3337
Publisher: Mary Ann Liebert Inc.
DOI: 10.1089/nat.2021.0039

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Author(s): Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Dup
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01218-6

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

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, 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, 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, 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, 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, 21/22, 2020, Page(s) 8757, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757

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

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, 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, 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, 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

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, 8(4), 2021, Page(s) 774–789, ISSN 2328-9503
Publisher: Wiley Periodicals LLC
DOI: 10.1002/acn3.51315

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
DOI: 10.1093/ckj/sfaa182

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
DOI: 10.1016/j.ajhg.2020.11.002

A form of muscular dystrophy associated with pathogenic variants in JAG2

Author(s): Sandra Coppens Alison M. Barnard Sanna Puusepp Sander Pajusalu Katrin Õunap Dorianmarie Vargas-Franco Christine C. Bruels Sandra Donkervoort Lynn Pais Katherine R. Chao Julia K. Goodrich Eleina M. England Ben Weisburd Vijay S. Ganesh Sanna Gudmundsson Anne O’Donnell-Luria Mait Nigul Pilvi Ilves Payam Mohassel Teepu Siddique Margherita Milone Stefan Nicolau Reza Maroofian Henry Houlden Michael G
Published in: The American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.03.020

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, 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

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

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

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, 2021;62, 2021, Page(s) 1293–1305, ISSN 0013-9580
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/epi.16908

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
DOI: 10.1186/s13023-021-02068-w

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

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, 85(5), 2021, Page(s) 186-195, ISSN 1469-1809
Publisher: John Wiley & Sons Ltd/University College London
DOI: 10.1111/ahg.12437

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, 31, 2022, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00964-0

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, 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, 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, 6/1, 2019, Page(s) e393, ISSN 2376-7839
Publisher: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000393

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, 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, 27, 2021, ISSN 0197-3851
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717

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, 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, 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⟩", 23, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00900-2

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

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, 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
DOI: 10.3233/jnd-200546

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

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.
DOI: 10.1002/path.5812

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
DOI: 10.1016/j.ejmg.2021.104401

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, 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

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Author(s): van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibol
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.02.014

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, 11, 2020, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2020.00605

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, Feb 2021, 7 (1) e536, 2021, Page(s) 14, ISSN 2376-7839
Publisher: American Academy of Neurology
DOI: 10.1212/nxg.0000000000000536

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
DOI: 10.1001/jama.2020.13719

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

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, 2021 Jan 8, 2021, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkaa1043

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, 109, 2022, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.08.008

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, 144(8), 2021, Page(s) 2471-2485, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab226

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, 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, 16, 2021, ISSN 1098-1004
Publisher: John Wiley & Sons
DOI: 10.1002/humu.24176

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, 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

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, 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, 2/2, 2020, ISSN 2632-1297
Publisher: Oxford University Press
DOI: 10.1093/braincomms/fcaa122

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

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, 22/9, 2020, Page(s) 1205-1215, ISSN 1525-1578
Publisher: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2020.06.008

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

Author(s): Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, Roos A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Töpf A, Straub V
Published in: Neuropediatrics, 2021, ISSN 0174-304X
Publisher: Georg Thieme Verlag
DOI: 10.1055/s-0040-1715625

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author(s): Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad
Published in: Genome Medicine, 2021, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-021-00900-3

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

Author(s): Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Published in: Neuron, 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, 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, 2018/1, 2018, ISSN 1758-0463
Publisher: Oxford University Press
DOI: 10.1093/database/bay026

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

Author(s): Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Published in: BMC Neurology, 18/1, 2018, ISSN 1471-2377
Publisher: BioMed Central
DOI: 10.1186/s12883-018-1180-7

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, 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, 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, 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, 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, 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, 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, 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, 13/1, 2018, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-018-0955-7

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, 9/1, 2019, ISSN 2044-5040
Publisher: BioMed Central
DOI: 10.1186/s13395-019-0199-9

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, 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, 92/23, 2019, Page(s) e2679-e2690, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000007606

Update on the Genetics of Spastic Paraplegias

Author(s): Maxime Boutry, Sara Morais, Giovanni Stevanin
Published in: Current Neurology and Neuroscience Reports, 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, 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, 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, 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

226th ENMC International Workshop:

Author(s): Annemieke Aartsma-Rus, Alessandra Ferlini, Elizabeth M. McNally, Pietro Spitali, H. Lee Sweeney, Annemieke M. Aartsma-Rus, Christina Al-Khalili Szigyarto, Luca Bello, Abby Bronson, Kristy Brown, Filippo Buccella, Jessica Chadwick, Alessandra Ferlini, Diane Frank, Eric Hoffman, Jane Larkindale, G. McClorey, Elizabeth McNally, Rick Munschauer, Francesco Muntoni, Jane Owens, Ulrike Schara, Pietro Spi
Published in: Neuromuscular Disorders, 28/1, 2018, Page(s) 77-86, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2017.10.002

Phenotero: Annotate as you write

Author(s): Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Published in: Clinical Genetics, 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, 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, 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, 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, 6, 2020, ISSN 1466-1268
Publisher: Springer Nature
DOI: 10.1007/s12192-020-01101-4

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, 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, 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, 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, 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, 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

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, 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, 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, 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, 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, 35, 2019, Page(s) 101336, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2018.10.021

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

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

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

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Author(s): Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Sc
Published in: Nature Medicine, 2021, ISSN 1078-8956
Publisher: Nature Publishing Group
DOI: 10.1038/s41591-021-01346-1

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, 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, 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, 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-019-12620-9

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
DOI: 10.1016/j.ajhg.2021.04.024

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, 88/1, 2020, Page(s) 18-32, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.25723

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, 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, VOL 40, June 2022, 2022, Page(s) 815–820, ISSN 1087-0156
Publisher: Nature Publishing Group
DOI: 10.1038/s41587-022-01357-4

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, 11, 2019, Page(s) 401–419, ISSN 2214-3599
Publisher: IOS Press
DOI: 10.3233/JND-190427

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, Volume 91, Issue 1, 2022, Page(s) p. 33-47, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26265

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, 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, 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, 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

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,, 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, 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, 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, 29, 2021, Page(s) 1337–1347, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00852-7

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, 3, 100054, January 13, 2022, 2022, Page(s) 18, ISSN 2666-2477
Publisher: Cell Press Elsevier Inc.
DOI: 10.1016/j.xhgg.2021.100054

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, 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, 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, 40/8, 2020, Page(s) 972-983, ISSN 0197-3851
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717

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, 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, 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, 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, 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, 29/12, 2019, Page(s) 980-1018, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2019.10.010

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, 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, P031, 2020
Publisher: EURORDIS-Rare Diseases Europe