Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database von Wakap, Stephanie Nguengang, Lambert, Deborah M., Olry, Annie, Rodwell, Charlotte, Gueydan, Charlotte, Lanneau, Valerie, Mury, Danphiel, Le Cam, Yann, Rath, Ana

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases von Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns

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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database von Pavan, Sonia, Rommel, Kathrin, Mateo Marquina, María Elena, Höhn, Sophie, Lanneau, Valérie, Rath, Ana

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Barriers to the conduct of randomised clinical trials within all disease areas von Djurisic, Snezana, Rath, Ana, Gaber, Sabrina, Garattini, Silvio, Bertele, Vittorio, Ngwabyt, Sandra-Nadia, Hivert, Virginie, Neugebauer, Edmund A M, Laville, Martine, Hiesmayr, Michael, Demotes-Mainard, Jacques, Kubiak, Christine, Jakobsen, Janus C, Gluud, Christian

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective von Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

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Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project von Angin, Céline, Mazzucato, Monica, Weber, Stefanie, Kirch, Kurt, Abdel Khalek, Waed, Ali, Houda, Maiella, Sylvie, Olry, Annie, Jannot, Anne-Sophie, Rath, Ana

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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases von Wang, Chiuhui Mary, Whiting, Amy Heagle, Rath, Ana, Anido, Roberta, Ardigò, Diego, Baynam, Gareth, Dawkins, Hugh, Hamosh, Ada, Le Cam, Yann, Malherbe, Helen, Molster, Caron M, Monaco, Lucia, Padilla, Carmencita D, Pariser, Anne R, Robinson, Peter N, Rodwell, Charlotte, Schaefer, Franz, Weber, Stefanie, Macchia, Flaminia

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A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overco... von Rath, Ana, Salamon, Valérie, Peixoto, Sandra, Hivert, Virginie, Laville, Martine, Segrestin, Berenice, Neugebauer, Edmund A M, Eikermann, Michaela, Bertele, Vittorio, Garattini, Silvio, Wetterslev, Jørn, Banzi, Rita, Jakobsen, Janus C, Djurisic, Snezana, Kubiak, Christine, Demotes-Mainard, Jacques, Gluud, Christian

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Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders von Fiore, Mathieu, Giraudet, Janine-Sophie, Alessi, Marie-Christine, Falaise, Céline, Desprez, Dominique, d'Oiron, Roseline, Voisin, Sophie, Hurtaud, Marie-Françoise, Boutroux, Hélène, Saultier, Paul, Lavenu-Bombled, Cécile, Bagou, Gilles, Dubucs, Xavier, Chauvin, Anthony, Leroy, Christophe, Meckert, Francine, Kerbaul, François, Giraud, Nicolas, Pühler, Ambra, Rath, Ana

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ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability von Mazzucato, Monica, Pozza, Laura Visonà Dalla, Facchin, Paola, Angin, Cèline, Agius, Francis, Cavero-Carbonell, Clara, Corrochano, Virginia, Hanusova, Katerina, Kirch, Kurt, Lambert, Deborah, Lucano, Caterina, Maiella, Sylvie, Panzaru, Monica, Rusu, Cristina, Weber, Stefanie, Zurriaga, Oscar, Zvolsky, Miroslav, Rath, Ana

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Specific barriers to the conduct of randomised clinical trials on medical devices von Neugebauer, Edmund A M, Rath, Ana, Antoine, Sunya-Lee, Eikermann, Michaela, Seidel, Doerthe, Koenen, Carsten, Jacobs, Esther, Pieper, Dawid, Laville, Martine, Pitel, Séverine, Martinho, Cecilia, Djurisic, Snezana, Demotes-Mainard, Jacques, Kubiak, Christine, Bertele, Vittorio, Jakobsen, Janus C, Garattini, Silvio, Gluud, Christian

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Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes von Chang, Willie H., Mashouri, Pouria, Lozano, Alexander X., Johnstone, Brittney, Husić, Mia, Olry, Annie, Maiella, Sylvie, Balci, Tugce B., Sawyer, Sarah L., Robinson, Peter N., Rath, Ana, Brudno, Michael

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Evidence-based practice within nutrition: what are the barriers for improving the evidence and how can they be dealt with? von Laville, Martine, Segrestin, Berenice, Alligier, Maud, Ruano-Rodríguez, Cristina, Serra-Majem, Lluis, Hiesmayr, Michael, Schols, Annemie, La Vecchia, Carlo, Boirie, Yves, Rath, Ana, Neugebauer, Edmund A M, Garattini, Silvio, Bertele, Vittorio, Kubiak, Christine, Demotes-Mainard, Jacques, Jakobsen, Janus C, Djurisic, Snezana, Gluud, Christian

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Correction to: An ontological foundation for ocular phenotypes and rare eye diseases von Sergouniotis, Panagiotis I, Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N, Dollfus, Hélène

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P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition von DiStefano, Marina, Alkuraya, Fowzan, Amberger, Joanna, Austin-Tse, Christina, Austine, Ola, Balzotti, Marie, Berg, Jonathan, Bruford, Elspeth, Byrne, Alicia, Cibrian-Uhalte, Elena, Coffey, Alison, Firth, Helen, Hamosh, Ada, Hunt, Sarah, Klein, Teri, Kurtz, Catherine, Leigh, Sarah, Leong, Ivone, Lucano, Caterina, Maddirevula, Sateesh, O'Neill, Audrey, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Taylor, Julie, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Ware, James, Wayburn, Bess, Weller, Phillip, Rehm, Heidi

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P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions von DiStefano, Marina, Amberger, Joanna, Austin-Tse, Christina, Balzotti, Marie, Amin, Mutaz, Berg, Jonathan, Bocchini, Carol, Bruford, Elspeth, Alkuraya, Fowzan, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Einhorn, Yaron, Goldstein, Jennifer, Hamosh, Ada, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Weller, Phillip, Rehm, Heidi

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Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding von Aymé, Ségolène, Bellet, Bertrand, Rath, Ana

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Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users von Rath, Ana, Olry, Annie, Dhombres, Ferdinand, Brandt, Maja Miličić, Urbero, Bruno, Ayme, Segolene

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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved] von Salgado, David, Armean, Irina M, Baudis, Michael, Beltran, Sergi, Capella-Gutierrez, Salvador, Carvalho-Silva, Denise, Dominguez Del Angel, Victoria, Dopazo, Joaquin, Furlong, Laura I, Gao, Bo, Garcia, Leyla, Gerloff, Dietlind, Gut, Ivo, Gyenesei, Attila, Habermann, Nina, Hancock, John M, Hanauer, Marc, Hovig, Eivind, Johansson, Lennart F, Keane, Thomas, Korbel, Jan, Lauer, Katharina B, Laurie, Steve, Leskošek, Brane, Lloyd, David, Marques-Bonet, Tomas, Mei, Hailiang, Monostory, Katalin, Piñero, Janet, Poterlowicz, Krzysztof, Rath, Ana, Samarakoon, Pubudu, Sanz, Ferran, Saunders, Gary, Sie, Daoud, Swertz, Morris A, Tsukanov, Kirill, Valencia, Alfonso, Vidak, Marko, Yenyxe González, Cristina, Ylstra, Bauke, Béroud, Christophe

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How many rare diseases are there? von Haendel, Melissa, Vasilevsky, Nicole, Unni, Deepak, Bologa, Cristian, Harris, Nomi, Rehm, Heidi, Hamosh, Ada, Baynam, Gareth, Groza, Tudor, McMurry, Julie, Dawkins, Hugh, Rath, Ana, Thaxton, Courtney, Bocci, Giovanni, Joachimiak, Marcin P., Köhler, Sebastian, Robinson, Peter N., Mungall, Chris, Oprea, Tudor I.

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