Solving the unsolved Rare Diseases

Deliverables

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.

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.

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.

Publications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Datasets

Author(s): Magri, Stefania; Balistreri, Francesca; Taroni, Franco
Published in: Zenodo

Author(s): Pisciotta, Chiara; Pareyson, Davide
Published in: Zenodo

Phenopackets for case reports of structural variants

Author(s): Robinson, Peter N
Published in: Zenodo

Additional file 1 of Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

Author(s): Van Deuren, Rosanne C.; Arts, Peer; Cavalli, Giulio; Jaeger, Martin; Steehouwer, Marloes; Van De Vorst, Maartje; Gilissen, Christian; Joosten, Leo A. B.; Dinarello, Charles A.; Mhlanga, Musa M.; Kumar, Vinod; Netea, Mihai G.; Van De Veerdonk, Frank L.; Hoischen, Alexander
Published in: figshare

Additional file 1: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author(s): Arts, Peer; Simons, Annet; Mofareh AlZahrani; Elanur Yilmaz; AlIdrissi, Eman; Aerde, Koen; Njood Alenezi; AlGhamdi, Hamza; Hadeel AlJubab; Abdulrahman Al-Hussaini; AlManjomi, Fahad; Alsaad, Alaa; Alsaleem, Badr; Abdulrahman Andijani; Asery, Ali; Ballourah, Walid; Bleeker-Rovers, Chantal; Deuren, Marcel; Flier, Michiel; Gerkes, Erica; Gilissen, Christian; Habazi, Murad; Hehir-Kwa, Jayne; Henriet, Stefanie; Hoppenreijs, Esther; Hortillosa, Sarah; Kerkhofs, Chantal; Keski-Filppula, Riikka; Lelieveld, Stefan; Lone, Khurram; MacKenzie, Marius; Mensenkamp, Arjen; Moilanen, Jukka; Nelen, Marcel; Oever, Jaap; Potjewijd, Judith; Paassen, Pieter; Schuurs-Hoeijmakers, Janneke; Simon, Anna; Stokowy, Tomasz; Vorst, Maartje; Vreeburg, Maaike; Wagner, Anja; Well, Gijs; Zafeiropoulou, Dimitra; Zonneveld-Huijssoon, Evelien; Veltman, Joris; Zelst-Stams, Wendy; Faqeih, Eissa; Veerdonk, Frank; Netea, Mihai; Hoischen, Alexander
Published in: figshare

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 2: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

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

Author(s): Haidar, Mansour; Asselbergh, Bob; Adriaenssens, Elias; Winter, Vicky De; Timmermans, Jean-Pierre; Auer-Grumbach, Michaela; Juneja, Manisha; Timmerman, Vincent
Published in: Taylor & Francis

Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 4: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

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