Publications - ERN ITHACA

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
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
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
Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest

Tanja Zdolsek Draksler, Anne Hugon, Dorica Dan

Rare Volume 3, 2025, 100072
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.
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.
Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1

Petrák B, Zemková D, Seeman P, Tesner P, Kremlíková Pourová R

Česká a slovenská neurologie a neurochirurgie. 2021 Apr 30;84/117(2).
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity

Čopíková J, Katra R, Kremlíková Pourová R

Otorinolaryngologie a foniatrie. 2021 Mar 20;70(1):39–46
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome

Skrivan J, Jurovcik M, Aksenovova Z, Astl J, Pourova RK, Dytrych P, Sieger T

Balkan medical journal. 2021;38(4):244–8
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F, European Society of Human Genetics

European journal of human genetics : EJHG. 2021;29(3):365–77