The following publications are the result of the successful cooperation of the Solve-RD partners and represent the breadth of the scientific expertise of the consortium.
Results
- Welcome
- The Project
- The Group
- Consortium
- EKUT – 1a
- EKUT – 1b
- RUMC – 2
- ULEIC – 3
- UNEW – 4
- MUH – 5
- CHU Dijon – 6a
- UB – 6b
- CNAG-CRG – 7
- EURORDIS – 8
- INSERM-Orphanet – 9a
- INSERM-ICM – 9b
- INSERM-CRM – 9c
- CUP – 10
- EMBL-EBI – 11
- JAX – 12
- KCL – 13
- UCL-IoN – 14a
- UCL-ICH – 14b
- UA – 15
- Uni Naples – 16
- UNIFE – 17
- UHB – 18
- IPATIMUP – 19
- UMCG – 20
- Charité -21
- SHU – 22
- Project Coordinator
- Project Office
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- Scientific Advisory Board
- Independent Ethics Advisory Board
- Associated Networks/Partners
- Collaborations
- Consortium
- Platforms & Tools
- Results
- Meetings
- News
2019
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H
Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23792. [Epub ahead of print]
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G.
Cell 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
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 May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, and Peter De Jonghe
Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Haidar M, Asselbergh B, Adriaenssens E, De Winter V, Timmermans JP, Auer-Grumbach M, Juneja M, Timmerman V
Autophagy. 2019 Jan 23:1-18. doi: 10.1080/15548627.2019.1569930.
Targeted therapies for congenital myasthenicsyndromes: systematic review and steps towardsa treatabolome.
Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Emerging Topics in Life Sciences 2019, https://doi.org/10.1042/ETLS20180100
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
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 Bergerson, Stanley J F Laulederkind, Zafer Yüksel, Sergi Beltran, Alexandra F Freeman, Panagiotis I Sergouniotis, Daniel Durkin, Andrea L Storm, Marc Hanauer, Michael Brudno, Susan M Bello, Murat Sincan, Kayli Rageth, Matthew T Wheeler, Renske Oegema, Halima Lourghi, Maria G Della Rocca, Rachel Thompson, Francisco Castellanos, James Priest, Charlotte Cunningham-Rundles, Ayushi Hegde, Ruth C Lovering, Catherine Hajek, Annie Olry, Luigi Notarangelo, Morgan Similuk, Xingmin A Zhang, David Gómez-Andrés, Hanns Lochmüller, Hélène Dollfus, Sergio Rosenzweig, Shruti Marwaha, Ana Rath, Kathleen Sullivan, Cynthia Smith, Joshua D Milner, Dorothée Leroux, Cornelius F Boerkoel, Amy Klion, Melody C Carter, Tudor Groza, Damian Smedley, Melissa A Haendel, Chris Mungall, Peter N Robinson
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.
2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller
Orphanet Journal of Rare Diseases 2018 13:211, doi.org/10.1186/s13023-018-0955-7
Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M).
Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ.
npj Genomic Medicine (2018) 3:17. doi:10.1038/s41525-018-0057-4.
Improved ontology-based similarity calculations using a study-wise annotation model.
Köhler S.
Database (Oxford). 2018 Jan 1;2018. doi: 10.1093/database/bay026. PMID: 29688377.
