Solving the unsolved Rare Diseases

Training ERN patient representatives in scientific innovation and genome diagnostics.

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

Provide all foundational standards selected and implemented across the project.

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.

Database and data sharing aspects of the project.

Metadata aspects of the project.

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

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 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

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

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, Issue 18/1, 2018, ISSN 1471-2377
DOI: 10.1186/s12883-018-1180-7

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

Author(s): Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick M
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-018-07953-w

Published in: ISSN 0022-3050
DOI: 10.1136/jnnp-2018-318834

Author(s): Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz-Wagenblatt, Vincent Timmerman, Nathalie Bonello-Palot, Beate Schlotter-Weigel, Michaela Auer-Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeiste
Published in: Immunity, Issue 50/5, 2019, Page(s) 1218-1231.e5, ISSN 1074-7613
DOI: 10.1016/j.immuni.2019.03.005

Author(s): Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S. R. Wayne Chen, Ludger Schöls, Rebecca Schüle
Published in: European Journal of Human Genetics, Issue 26/11, 2018, Page(s) 1623-1634, ISSN 1018-4813
DOI: 10.1038/s41431-018-0206-3

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

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

Author(s): Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published in: Orphanet Journal of Rare Diseases, Issue 13/1, 2018, ISSN 1750-1172
DOI: 10.1186/s13023-018-0955-7

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

Author(s): Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Published in: Expert Review of Neurotherapeutics, Issue 19/5, 2019, Page(s) 409-415, ISSN 1473-7175
DOI: 10.1080/14737175.2019.1608824

Published in: ISSN 0028-3878
DOI: 10.1212/wnl.0000000000007606

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

Author(s): Mohammad Ali Farazi Fard, Adriana P. Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez-Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole B. Martuscelli, Dana M. Bis-Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra
Published in: The American Journal of Human Genetics, Issue 104/4, 2019, Page(s) 767-773, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2019.03.001

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

Author(s): Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry, David Osumi-Sutherland, Valentina Cipriani, James P Balhoff, Tom Conlin, Hannah Blau, Gareth Baynam, Richard Palmer, Dylan Gratian, Hugh Dawkins, Michael Segal, Anna C Jansen, Ahmed Muaz, Willie H Chang, Jenna Bergers
Published in: Nucleic Acids Research, Issue 47/D1, 2018, Page(s) D1018-D1027, ISSN 0305-1048
DOI: 10.1093/nar/gky1105

Published in: ISSN 1059-7794
DOI: 10.1002/humu.23792

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, Issue 28/1, 2018, Page(s) 77-86, ISSN 0960-8966
DOI: 10.1016/j.nmd.2017.10.002

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

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

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

Author(s): Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi
Published in: Genome Medicine, Issue 11/1, 2019, ISSN 1756-994X
DOI: 10.1186/s13073-019-0649-3

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
DOI: 10.1016/j.mam.2019.05.002