Lista de publicaciones
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Navigating care for rare: Clinical practice guidelines for rare genetic neurodevelopmental disorders
Mirthe Jasmijn Klein Haneveld
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Methodological rigor of rare disease guidelines in Europe: a scoping review and critical appraisal
Willemijn F. E. Irvine, Mirthe J. Klein Haneveld, Iméze J. Hieltjes & Charlotte M. W. Gaasterland
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Diagnosis and management of Silver-Russell syndrome: second international consensus statement
Emma Wakeling, Justin H Davies, Eloïse Giabicani, Susan M O'Connell, Madeleine D Harbison, Amélie Perriere, Jennifer B Salem, Matthias Begemann, Gerhard Binder, Frédéric Brioude, Dayna Morris-Carney, Jovanna Dahlgren, Bea Dickinson, Bruno Donadille, Beatrice Dubern, Katja Eggermann, Gabriella Gazdagh, Karen Grønskov, Anita C Hokken Koelega, Youn Hee Jee, Alicia Jurians, Masayo Kagami, Satomi Koyama, Emilie Kulak, Asmahane Ladjouze, Paola Lombardi, Mohamad Maghnie, Louise McClelland, Veronica Mericq, Giuseppa Patti, Klaudia Raabe, Andrea Riccio, Silvia Russo, Helen L Storr, I Karen Temple, Zeynep Tümer, Thomas Eggermann, Deborah J G Mackay, Irene Netchine
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Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease
Maya M Polovitskaya, Tinatin Tkemaladze, Lotte Jensen, Sumanta Kar, Rosa Planells-Cases, Emanuele Agolini, Pankaj B Agrawal, Paolo Alfieri, Tahsin Stefan Barakat, Miriam Bertrand, Pamela Bowman, Alice S Brooks, Ange-Line Bruel, Sara Cabet, Karolina Chwialkowska, Giovanna Stefania Colafati, Julian Delanne, Laurence Faivre, Cristina Felton, Ute Grasshoff, Anne-Marie Guerrot, Tobias B Haack, Claudia Haase, Ashley R Helseth, Katrien Janssens, Amjad Khan, Margarete Koch-Hogrebe, Joshua Mandelberg, Elisabeth Mangold, Elene Melikidze, Marije Meuwissen, Ieva Mičule, Brittany Noble, Konrad Platzer, Dmitrijs Rots, Catherin Sarret, Ariane Schmetz, Amelle Shillington, Frédéric Tran-Mau-Them, Dagmar Wieczorek, Gaetan Lesca, Allan Bayat, Thomas J Jentsch
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Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed
Silvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, Céline Huber, Elsa Ferriere, Benjamin Fournier, Morgane Cheminant, Martin Castelle, Paul Bastard, Nicolas Noel, Katia Bourdic, Capucine Picard, Despina Moshous, Virginie Courteille, Nizar Mahlaoui, Jacinta Bustamante, Gislène Collobert, Cyril Mignot, Boris Keren, Séverine Drunat, Sophie Rondeau, Alexia Rabec, Alicia Besson, Nicolas Chatron, Gaetan Lesca, Audrey Laurent, Jérémie Mortreux, Marine Serveaux Dancer, Gabriel Dejeans, Claire Poggi, Radka Stoeva, Alissandre Lecordier, Céline Poirsier, Anne Dieux, Francoise Sarrot-Reynauld, Béatrice Laudier, Maelle Le Besnerais, Anne-Marie Guerrot, Mathilde Nizon, Benjamin Cogne, Bertrand Isidor, Sophie Julia, Sarra Bouri, Mathieu Fusaro, Marjolaine Willems, Narcisse Elenga, Succès Remadji Dobian, Mody Diop, Salomé Pacaud, Claire Dichamp, Elisabeth Sarrazin, Amaia Lasa-Aranzasti, Eduardo Fidel Tizzano, Ivon Cusco Marti, Andrea Martin Nalda, Ana Felipe-Rucián, David Gómez-Andres, Marta Codina-Solà, Paula Fernandez, Jacques Gabriel Riviere, Pere Soler-Palacín, Alberto Fernández-Jaén, Teresa Carrión-Mera, Insa Borgmann, Christin Johnsen, Lars Schlotawa, Matthias Kettwig, Jessica Hoffmann, Christiane Lex, Carsten Speckmann, Sandra von Hardenberg, Martin Wetzke, Victoria G. Paul, Matthias Vockel, Judit Horvath, Andreas Busche, Niklas Hirschberger, Moneef Shoukier, Isabel Filges, Julie De Geyter, Tahsin Stefan Barakat, Isabella Borg, Anna Kłosowska, Lena Głuszkiewicz, Stephanie Allen, Deirdre Cilliers, Patricia Ann Foley, Sally Ann Lynch, Ciara McDonnell, Ivona Sansović, Ljubica Odak, Katarina Vulin, Janni Majgaard Jensen, Inge Søkilde Pedersen, Anja Ernst, Elifcan Taşdelen, Mustafa Kılıç, Esra Kılıç, Umut Altunoğlu, Burak Tatlı, Burcu Akman, Ravza Nur Yıldırım, Semra Gürsoy, Özlem Giray Bozkaya, Marcello Niceta, Cecilia Mancini, Andrea Ciolfi, Giulia Severi, Marilù Capelli, Daniela Melis, Roberta Onesimo, Chiara Leoni, Diana Carli, Alessandro Mussa, Giuseppe Zampino, Andrea Citterio, Claudio Graziano, Ilaria Donati, Maria Accadia, Luigi Bisceglia, Alessandro Bruselles, Marco Tartaglia, Tania Barragán-Arévalo, Philip M. Boone, Ryan W. Nelson, Sara Cabet, Annabelle Arlt, Alexander Hustinx, Hannah Klinkhammer, Peter Krawitz, Jeanne Amiel, AURAGEN consortium, Irene Valenzuela Palafoll, Felipe Suarez, Marion Delous, Sylvie Mazoyer, Patrick Edery, Audrey Putoux
Genetics in Medicine
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What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis
Deborah M. Lambert, Helen Stewart, Mari Bandiola, Marta Bertoli, Dearbhla Butterly, Outi Kuismin, Jukka Moilanen, Gillian Rea, Ioana Streata, Anna Griffin, Vicky McGrath, Deborah Behan, Natasha Coen, Sheila King, Elaine Kilroe, Alana J. Ward & Sally Ann Lynch
European Journal of Human Genetics
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Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)
Dhombres, F., T. de Saint-Denis, D. Thompson, J. Tahraoui-Bories, C. Lucano, A. Rath, G. Mosiello, J. M. Jouannic, a. Rennes Workshop, a. Roma Workshop, a. Barcelona Workshop and E. R. N. n. managers
Orphanet J Rare Dis 20(1): 348
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Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest
Tanja Zdolsek Draksler, Anne Hugon, Dorica Dan
Rare Volume 3, 2025, 100072
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Further delineation of the SCAF4-associated neurodevelopmental disorder
Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C
European Journal of Human Genetics. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2.
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Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
Quinn S, Walsh N, Streata I, Ververi A, Kulshrestha S, Puri RD, Riza AL, Walsh A, Gorman K, Crushell E, Green A, Kenny J, Lynch SA
European Journal of Medical Genetics. 2024 Dec 19;73:104989.