Posters

Posters presented in Heidelberg 2014

 

RD-Connect

Standardized analysis and sharing of genome – phenome data for neuromuscular and rare disease research through the RD-Connect platform. S.Beltran; D.Piscia; S.Laurie; J.Protasio; A.Papakonstantinou1; A.Cañada; J.M.Fernández; M.Thompson; R.Kaliyaperumal; S.Lair; P.Sernadela; M.Girdea; M.Brudno; A.Blavier; R.Thompson; H.Lochmüller; A.Roos; V.Straub; M.Bellgard; J.Paschall; M.Roos; P.A.C.’tHoen; A.Valencia; D.Salgado; C.Béroud; I.Gut; the RD-Connect Consortium (2016): ICNMD_RD-Connect

RD-Connect: first year review. Heslop, Emma; Thompson, Rachel; Johnston, Louise; Bushby, Kate; Gut, Ivo; Taruscio, Domenica; Monaco, Lucia; Béroud, Christophe; Hansson, Mats; Lochmüller, Hanns (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.954936

Genome Annotation using Nanopublications: An Approach to Interoperability of Genetic Data. Kaliyaperumal, Rajaram; Hoen1, Peter A.C. ‘t; Tatum, Zuotian; Thompson, Mark; Schultes, Erik; Gibson, Andrew; Fokkema, Ivo F.A.C.; Dunnen, Johan T. den; Laros, Jeroen F.J.; Oliveira, José Luis; Lopes, Pedro; Sernadela, Pedro; Roos, Marco (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.958927

An integrative rare diseases research portal. Lopes, Pedro; Oliveira, José Luis (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.963311

Exploring nanopublishing with COEUS. Lopes, Pedro; Sernadela, Pedro; Oliveira, José Luis (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.963314

PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Girdea, Marta; Dumitriu, Sergiu; Fiume, Marc; Buske, Orion; Bowdin, Sarah; Boycott, Kym M.; Chénier, Sébastien; Chitayat, David; Faghfoury, Hanna; Meyn, Stephen; Ray, Peter N.; So, Joyce; Stavropoulos, Dimitri J.; Brudno, Michael (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.939459

PhenomeCentral: An Integrated Portal for Sharing and Searching Patient Phenotype Data for Rare Genetic Disorders. Brudno, Michael; Girdea, Marta; Dumitriu, Sergiu; Buske, Orion; Köhler, Sebastian; Robinson, Peter N.; Brookes, Andrew J.; Boycott, Kym; Boerkoel, Cornelius F.; Gahl, William A.; (FORGE), Canadian CARE for RARE Consortium; Program, NIH Undiagnosed Diseases (2014). figshare.
http://dx.doi.org/10.6084/m9.figshare.939458

A mapping study of the biomedical ontologies in the RD-Connect project framework. Lopez Martin, Estrella; Alonso, Veronica; Taruscio, Domenica; Rubinstein, Yaffa R.; Posada, Manuel (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.939391

The GRDR-GUID: a model for global sharing of patients de-identified data. Posada, Manuel; Rubinstein, Yaffa R.; McAuliffe, Matthew; Taruscio, Domenica; Groft, Stephen C. (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.939393

RD-Connect online catalogue of biobanks and registries: what do we add to the existing? Gainotti, Sabina; Torreri, Paola; Bravo, Elena; Taruscio, Domenica; Muller, Heimo; Rehis, Robert; Abuja, Peter; Blandin, Gaelle; Lopez, Estrella; Posada, Manuel; Crimi, Marco; Monaco, Lucia (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.939401

Informed consent in the RD-Connect platform: preparing guidelines for the information of participants/donors. Gainotti, Sabina; D’Abramo, Flavio; Ensini, Monica; Hansson, Mats; Kole, Anna; Mascalzoni, Deborah; McCormack, Pauline; Molster, Caron; Posada, Manuel; Taruscio, Domenica; Woods, Simon (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.939400

Connecting diagnostic labs: Cafe Variome and DNA sequencing software. Atlan, David; Beck, Tim; Brookes, Anthony J; Dalgleish, Raymond; Lancaster, Owen; Wolf, Beat (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.938230

EURenOmics

ERCB-Nephromine-EuRenOmics Database. Lindenmeyer, Maja; Grote, Korbinian; Martini, Sebastian; Werner, Thomas; Kretzler, Matthias; Cohen, Clemens D. (2014): figshare.
http://dx.doi.org/10.6084/m9.figshare.940987

Mutations in ANKS6 cause a Nephronophthisis‐Like Phenotype with End Stage Renal Disease. Ozaltin, Fatih; Ozaltin, Ekim Z. Taskiran, Emine Korkmaz, Safak Gucer, Can Kosukcu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C. Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloglu, Franz Schaefer,Massimo Attanasio, Carsten Bergmann, Fatih (2014). figshare.
http://dx.doi.org/10.6084/m9.figshare.939372

Digital scanning and diagnostic scoring of kidney biopsies from children with steroid resistant nephritic syndrome. Gimpel, Charlotte; Grabe, Niels; Lahrmann, Bernd; Kretzler, Matthias; Barisoni, Laura; Hewitt, Stephen M.; Schaefer, Franz (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.940988

Massive parallel sequencing in steroid-resistant nephrotic syndrome (SRNS). Lipska-Ziętkiewicz, Beata; Gribouval, Olivier; Nitschke, Patrick; Bole, Christine; Rothier, Annelies; Schaefer, Franz; Antignac, Corinne (2014):  figshare. http://dx.doi.org/10.6084/m9.figshare.942282

Functionomics of newly identified magnesiotropic genes. De baaij, Jeroen; Hoenderop, Joost; Bindels, René (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.969648

Investigation of Hellenic families with microscopic hematuria reveals the frequency of collagen IV mutations and evidence for activation of the unfolded protein response. Deltas, Constantinos; Papazachariou, Louiza; Demothenous, Panagiota; Pieri, Myrtani; Voskarides, Konstantinos; Pierides, Alkis; Consortium, Hellenic Nephrogenetics Research (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.964793

Functionomics of novel mutations in NCC and their relevance in development of Gitelman syndrome. Jelen, Sabina; Bindels, Joost G.J. Hoenderop, René J.M. (2014). figshare.
http://dx.doi.org/10.6084/m9.figshare.1029143

 

Neuromics

The TREAT-NMD Care and Trial Site Registry: A powerful tool for clinical research on neurodegenerative and neuromuscular diseases. König, Kirsten; Gramsch, Kathrin; Tassoni, Adrian; Rodger, Sunil; Turner, Cathy; Paap, Brigitte; Klockgether, Thomas; Straub, Volker; Bushby, Kate; Lochmüller, Hanns; Kirschner, Janbernd (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.939392

Discover putative disease-causing mutations in patients with ataxia or paraplegia by using Next -Generation -Sequencing panels. Harmuth, Florian; Schulze, Martin; Bickmann, Julia; Sturm, Marc; Schicks, Julia; Synofzik, Matthis; Lohmann, Ebba; Riess, Olaf; Schöls, Ludgar; Bauer, Peter (2014).  figshare. http://dx.doi.org/10.6084/m9.figshare.939385

Identification of robust biomarkers of neuronal and glial metabolic changes in spinocerebellar ataxia type 1, 2, 3 & 7. Adanyeguh, Isaac; Henry, Pierre-Gilles; Nguyen, Tra M.; Rinaldi, Daisy; Jauffret, Céline; Valabregue, Romain; Emir, Uzay; Deelchand, Dinesh; Brice, Alexis; Öz, Gülin; Durr, Alexandra; Mochel, Fanny (2014).  figshare. http://dx.doi.org/10.6084/m9.figshare.939377

Data-sharing in NeurOmics: enabling effective collaboration and working with RD-Connect. Turner, Cathy; Brice, Alexis; Girdea, Marta; Graessner, Holm; Lévy, Nicolas; Lochmueller, Hanns; Magnusson, Olafur; Paschall, Justin; Thompson, Rachel; Zurek, Birte; Wirth, Brunhilde; Ommen, Gert-Jan van; Riess, Olaf; Straub, Volker (2014): figshare. http://dx.doi.org/10.6084/m9.figshare.938215

Association of metabolomic and lipidomic approaches for plasma biomarkers discovery. Seyer, Alexandre; Boudah, Samia; Broudin, Simon; Ducruix, Céline; Corman, Bruno; Junot, Christophe; Colsch, Benoit (2014). figshare. http://dx.doi.org/10.6084/m9.figshare.939404

Whole exome sequencing in patients with congenital myopathy. Zaharieva, Irina; Colombo, Irene; Sframeli, Maria; Sigurðsson, Johann Haukur; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Muntoni, Francesco (2014). figsharehttp://dx.doi.org/10.6084/m9.figshare.1025859