Deliverables
Work out best practices for evaluation and reporting of results
Training ERN patient representatives in scientific innovation and genome diagnostics.
Guidelines for exome/genome re-analysis provided by the Data Analyses Task Force.
Provide all foundational standards selected and implemented across the project.
Training ERN patient representatives in scientific innovation and genome diagnostics.
In this task we will make the necessary adaptations to PhenoTips allowing for the collection of phenotype data from unsolved cases coming from ERNs. The requirements for the templates will be prepared by the ERNs.
Database and data sharing aspects of the project.
Metadata aspects of the project.
The final guideline and its impact will be presented at international meetings published in the scientific literature and via digital media
Bespoke Phenotips frontends for collection of clinical information of unsolved patients from associated ERNs and undiagnosed disease programmes will be created.
The Treatabolome: flagging treatable genes and variants. The database will be connected to the RD-Connect genomic analysis platform and made accessible as part of the real-time analysis of the patients undergoing sequencing or exome analysis within Solve-RD as a proof of concept for the utility of the approach.
Good practice guidance will be provided in order to ensure the quality of data.
Solve-RD communication and dissemination tools like press releases, research briefs, research summary documents, policy brief, newsletter, publication in popular press, peer-reviewed journals, wide-audience journals with a high impact factor, publication of papers, reviews on different topics, organisation of symposia and presentation meetings, outreach to patient community and health care provider (networking).
Training and good practice guidance will be provided in order to ensure the quality of data at the source, based on users’ guides already in place around HPO and PhenoTips
Guidelines for Quality Control metrics provided by the Data Analyses Task Force.
Searching for OpenAIRE data...
Publications
Author(s): Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M
Published in: American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.09.007
Author(s): Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A.
Published in: American Journal of Human Genetics, 2022, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1002/ajmg.a.62494
Author(s): Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01246-2
Author(s): Andrea Cortese, Yi Zhu, Adriana P. Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna M. E. Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A. Haridy, Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E.
Published in: Nature Genetics, 52/5, 2020, Page(s) 473-481, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-020-0615-4
Author(s): Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C
Published in: Cancers (Basel), 2021, ISSN 2072-6694
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13174464
Author(s): Ana Töpf; Angela Pyle; Helen Griffin; Leslie Matalonga; Katherine Schon; Katherine Schon; Solve-RD DITF-euroNMD; Albert Sickmann; Albert Sickmann; Albert Sickmann; Ulrike Schara-Schmidt; Andreas Hentschel; Patrick F. Chinnery; Patrick F. Chinnery; Heike Kölbel; Andreas Roos; Rita Horvath
Published in: European Journal of Human Genetics, 23, 2021, Page(s) 1348–1353, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00851-8
Author(s): Daniel Danis, Julius O.B. Jacobsen, Leigh C. Carmody, Michael A. Gargano, Julie A. McMurry, Ayushi Hegde, Melissa A. Haendel, Giorgio Valentini, Damian Smedley and Peter N. Robinson
Published in: The American Journal of Human Genetics, Volume 108, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.06.014
Author(s): van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA.
Published in: Scientific Data, 2022, ISSN 2052-4463
Publisher: Springer Nature
DOI: 10.1038/s41597-022-01265-x
Author(s): Matthis Synofzik, Willeke M.C van Roon-Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graessner, Rebecca Schüle, and Annemieke Aartsma-Rus
Published in: Nucleic Acid Therapeutics, 32(2), 2022, Page(s) 83–94, ISSN 2159-3337
Publisher: Mary Ann Liebert Inc.
DOI: 10.1089/nat.2021.0039
Author(s): Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Dup
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01218-6
Author(s): Thomas Klockgether MD,Tetsuo Ashizawa MD,Bernard Brais MD,Rosalind Chuang MD,Alexandra Durr MD, PhD,Brent Fogel MD, PhD,Julie Greenfield,Sue Hagen,Laura Bannach Jardim MD,Hong Jiang MD,Osamu Onodera MD,José Luiz Pedroso MD,Bin-Weng Soong MD,David Szmulewicz MD,Holm Graessner,Matthis Synofzik MD, on behalf of Ataxia Global Initiative (AGI)
Published in: Movement Disorders Journal, Volume 37, Issue 6, 2022, Page(s) p. 1125-1130, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.29032
Author(s): F. M. Aarestrup, A. Albeyatti, W. J. Armitage, C. Auffray, L. Augello, R. Balling, N. Benhabiles, G. Bertolini, J. G. Bjaalie, M. Black, N. Blomberg, P. Bogaert, M. Bubak, B. Claerhout, L. Clarke, B. De Meulder, G. D’Errico, A. Di Meglio, N. Forgo, C. Gans-Combe, A. E. Gray, I. Gut, A. Gyllenberg, G. Hemmrich-Stanisak, L. Hjorth, Y. Ioannidis, S. Jarmalaite, A. Kel, F. Kherif, J. O. Korbel, C. L
Published in: Genome Medicine, 12/1, 2020, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-020-0713-z
Author(s): K. Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, Dennis Hendriksen, Cleo C. van Diemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema-Raddatz, Morris A. Swertz
Published in: Advanced Genetics, 1/1, 2020, Page(s) e10023, ISSN 2641-6573
Publisher: Wiley
DOI: 10.1002/ggn2.10023
Author(s): Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W. Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva-Gutierrez, David Mengel, Matthis Synofzik, Ludger Schols, Peter Martus & Rebecca Schule
Published in: Annals of Clinical and Translational Neurology, 2022 March, 2022, Page(s) 326–338, ISSN 2328-9503
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/acn3.51518
Author(s): Danique Beijer, Thomas Agnew, Johannes Gregor Matthias Rack, Evgeniia Prokhorova, Tine Deconinck, Berten Ceulemans, Stojan Peric, Vedrana Milic Rasic, Peter De Jonghe, Ivan Ahel, Jonathan Baets
Published in: Life Sci Alliance, 4(11), 2021, ISSN 2575-1077
Publisher: Life Science Alliance, LLC
DOI: 10.26508/lsa.202101057
Author(s): Iris B. A. W. te Paske, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer
Published in: International Journal of Molecular Sciences, 21/22, 2020, Page(s) 8757, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21228757
Author(s): Evgeniia Prokhorova, Thomas Agnew, Anne R Wondisford, Michael Tellier, Nicole Kaminski, Danique Beijer, James Holder, Josephine Groslambert, Marcin J Suskiewicz, Kang Zhu, Julia M Reber, Sarah C Krassnig, Luca Palazzo, Shona Murphy, Michael L Nielsen, Aswin Mangerich, Dragana Ahel, Jonathan Baets, Roderick J O'Sullivan, Ivan Ahel
Published in: Mol Cell, 81(12), 2021, Page(s) 2640-2655, ISSN 1097-2765
Publisher: Cell Press
DOI: 10.1016/j.molcel.2021.04.028
Author(s): Eppie M Yiu, Paula Bray, Jonathan Baets, Steven K Baker, Nina Barisic, Katy de Valle, Timothy Estilow, Michelle A Farrar, Richard S Finkel, Jana Haberlová, Rachel A Kennedy, Isabella Moroni, Garth A Nicholson, Sindhu Ramchandren, Mary M Reilly, Kristy Rose, Michael E Shy, Carly E Siskind, Sabrina W Yum, Manoj P Menezes, Monique M Ryan, Joshua Burns
Published in: J Neurol Neurosurg Psychiatry, 93(5), 2022, Page(s) 530-538, ISSN 0022-3050
Publisher: BMJ Publishing Group
DOI: 10.1136/jnnp-2021-328483
Author(s): Jonathan De Winter , Danique Beijer, Willem De Ridder, Matthis Synofzik, Stephan L Zuchner, PREPARE consortium; Philip Van Damme, Werner Spileers, Jonathan Baets
Published in: Brain, 144(2), 2021, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awaa389
Author(s): Garcia-Pelaez J, Barbosa-Matos R, Gullo I, Carneiro F, Oliveira C
Published in: Mol Oncol, 2021, ISSN 1878-0261
Publisher: Wiley
DOI: 10.1002/1878-0261.12948
Author(s): Gemma Bullich, Leslie Matalonga, Montserrat Pujadas, Anastasios Papakonstantinou, Davide Piscia, Raúl Tonda, Rafael Artuch, Pia Gallano, Glòria Garrabou, Juan R. González, Daniel Grinberg, Míriam Guitart, Steven Laurie, Conxi Lázaro, Cristina Luengo, Ramon Martí, Montserrat Milà, David Ovelleiro, Genís Parra, Aurora Pujol, Eduardo Tizzano, Alfons Macaya, Francesc Palau, Antònia Ribes, Lui
Published in: The Journal of Molecular Diagnostics, 24, 2022, Page(s) 529-542, ISSN 1525-1578
Publisher: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2022.02.003
Author(s): Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, Giancarlo Blasio, Annalaura Torella, Andrea Melluso, Giovanna Capolongo, Rosa Maria Pollastro, Giulio Piluso, Valentina Di Iorio, Francesca Simonelli, Davide Viggiano, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso
Published in: Journal of Nephrology, 2021, Page(s) 1855–1874, ISSN 1724-6059
Publisher: Springer Nature
DOI: 10.1007/s40620-021-01048-4
Author(s): Tanja Schmitz-Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella-Maria Kadas, Maria R€onnefarth, Anne-Sop
Published in: Ann Clin Transl Neurol, 8(4), 2021, Page(s) 774–789, ISSN 2328-9503
Publisher: Wiley Periodicals LLC
DOI: 10.1002/acn3.51315
Author(s): Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano
Published in: Clinical Kidney Journal, 2021, Page(s) 1545–1551, ISSN 2048-8513
Publisher: Oxford University Press
DOI: 10.1093/ckj/sfaa182
Author(s): Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Faur
Published in: Am J Hum Genet, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2020.11.002
Author(s): Sandra Coppens
Alison M. Barnard
Sanna Puusepp
Sander Pajusalu
Katrin Õunap
Dorianmarie Vargas-Franco
Christine C. Bruels
Sandra Donkervoort
Lynn Pais
Katherine R. Chao
Julia K. Goodrich
Eleina M. England
Ben Weisburd
Vijay S. Ganesh
Sanna Gudmundsson
Anne O’Donnell-Luria
Mait Nigul
Pilvi Ilves
Payam Mohassel
Teepu Siddique
Margherita Milone
Stefan Nicolau
Reza Maroofian
Henry Houlden
Michael G
Published in: The American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.03.020
Author(s): Ernest Turro, William J. Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David L. Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P.
Published in: Nature, 583/7814, 2020, Page(s) 96-102, ISSN 0028-0836
Publisher: Nature Publishing Group
DOI: 10.1038/s41586-020-2434-2
Author(s): van der Sanden BPGH, Corominas J, de Groot M, Pennings M, Meijer RPP, Verbeek N, van de Warrenburg B, Schouten M, Yntema HG, Vissers LELM, Kamsteeg EJ, Gilissen C.
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01174-1
Author(s): David Lewis-Smith, Peter D. Galer, Ganna Balagura, Hugh Kearney, Shiva Ganesan, Mahgenn Cosico, Margaret O’Brien, Priya Vaidiswaran, Roland Krause, Colin A. Ellis, Rhys H. Thomas, Peter N. Robinson and Ingo Helbig
Published in: Epilepsia, 2021;62, 2021, Page(s) 1293–1305, ISSN 0013-9580
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/epi.16908
Author(s): Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S.
Published in: Orphanet J Rare Dis, 2022, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-021-02068-w
Author(s): Mahmoud Koko, Ashraf Yahia, Liena E Elsayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed, Muddathir H A Hamad, Arwa M Babai, Rayan A Siddig, Amal S I Abd Allah, Mayada Mohamed, Melka El-Amin, Typhaine Esteves, Janine Altmüller, Mohammad Reza Toliat, Holger Thiele, Peter Nürnberg, Mustafa A Salih, Ammar E Ahmed, Holger Lerche, Giovanni Stevanin.
Published in: Ann Hum Genet, 85(5), 2021, Page(s) 186-195, ISSN 1469-1809
Publisher: John Wiley & Sons Ltd/University College London
DOI: 10.1111/ahg.12437
Author(s): Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De
Published in: European Journal of Human Genetics, 2022, Page(s) 5, ISSN 1476-5438
Publisher: Nature Publishing Group
DOI: 10.1038/s41431-022-01113-x
Author(s): Vyne van der Schoot; Lonneke Haer-Wigman; Ilse Feenstra; Femke Tammer; Anke J M Oerlemans; Martine P A van Koolwijk; Frans van Agt; Yvonne Arens; Han G. Brunner; Han G. Brunner; Lisenka E.L.M. Vissers; Helger G. Yntema
Published in: VOLUME=30;ISSUE=2;STARTPAGE=170;ENDPAGE=177;ISSN=1018-4813;TITLE=European Journal of Human Genetics, 31, 2022, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00964-0
Author(s): Luciano Merlini; Patrizia Sabatelli; Manuela Antoniel; Valeria Carinci; Fabio Niro; Giuseppe Monetti; Annalaura Torella; Teresa Giugliano; Cesare Faldini; Vincenzo Nigro
Published in: Skeletal Muscle, 17, 2019, Page(s) 1-7, ISSN 2044-5040
Publisher: BioMed Central
DOI: 10.1186/s13395-019-0199-9
Author(s): Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R.
Published in: Stem Cell Research, 2019, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2020.102059
Author(s): Birte Zurek, Kornelia Ellwanger, Lisenka E. L. M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A. C. ’t Hoen, Antonio Vitobello, Julia M. Schulze-Hentrich, Olaf Riess, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha
Published in: European Journal of Human Genetics, 29, 2021, Page(s) 1325–1331, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00859-0
Author(s): T Reid Alderson, Elias Adriaenssens, Bob Asselbergh, Iva Pritišanac, Jonas Van Lent, Heidi Y Gastall, Marielle A Wälti, John M Louis, Vincent Timmerman, Andrew J Baldwin, Justin Lp Benesch
Published in: EMBO J, 2021, ISSN 0261-4189
Publisher: Nature Publishing Group
DOI: 10.15252/embj.2019103811
Author(s): Claudia Stendel, Christiane Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D. Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M. Stettner, Boriana Büchner, Marni J. Falk, Johannes A. Mayr, Matthis Synofzik, Angela Abicht, Tobias B. Haack, Holger Prokisch, Saskia B. Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock
Published in: Neurology Genetics, 6/1, 2019, Page(s) e393, ISSN 2376-7839
Publisher: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000393
Author(s): Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O'Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M Fare, Lauren E Drake, Alice F Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C Voermans, Richard Jlf Lemmers, Silvère M van der Maarel, Devon Bonner, Jacinda B Sampson, Matthew T Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe
Published in: JCI Insight, 6(14), 2021, ISSN 2379-3708
Publisher: American Society for Clinical Investigation
DOI: 10.1172/jci.insight.148363
Author(s): Chantal Deden; Chantal Deden; Kornelia Neveling; Dimitra Zafeiropopoulou; Christian Gilissen; Rolph Pfundt; Tuula Rinne; Nicole de Leeuw; Brigitte H. W. Faas; Thatjana Gardeitchik; Suzanne C E H Sallevelt; Aimee D C Paulussen; Servi J. C. Stevens; Esther Sikkel; Mariet W. Elting; Merel C. van Maarle; Karin E. M. Diderich; Nicole Corsten-Janssen; Klaske D. Lichtenbelt; Guus Lachmeijer; Lisenka E.L.
Published in: Prenatal Diagnosis, 40(8), 972 - 983. Wiley, 27, 2021, ISSN 0197-3851
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717
Author(s): Jonathan De Winter, Liedewei Van de Vondel, Stephan Züchner, Els Ortibus, Jonathan Baets
Published in: Ann Neurol, 91(2), 2022, Page(s) 298-299, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26297
Author(s): Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santore
Published in: Front Neurol, 12, 2021, ISSN 1664-2295
Publisher: Frontiers Research Foundation
DOI: 10.3389/fneur.2021.677551
Author(s): de Boer, E.; Ockeloen, C. W.; Matalonga, L.; Horvath, R.; Rodenburg, R. J.; Coenen, M. J. H.; Janssen, M.; Henssen, D.; Gilissen, C.; Steyaert, W.; Paramonov, I.; Trimouille, A.; Kleefstra, T.; Verloes, A.; Vissers, L. E. L. M.; Nigro, V.; Torella, A.; Banfi, S.
Published in: "European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00900-2⟩", 23, 2021, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00900-2
Author(s): e Paske IBAW, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A; Solve-RD-GENTURIS group, van der Post RS, Lubinski J, Oliveira C, Hoogerbrugge N, de Voer RM
Published in: Eur J Hum Genet, 2021, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1038/s41431-021-00853-6
Author(s): David Mengel, Andreas Traschütz, Selina Reich, Alejandra Leyva-Gutiérrez, Friedemann Bender, Stefan Hauser, Tobias B. Haack, and Matthis Synofzik.
Published in: J Neurol, 268, 2021, Page(s) 3845–3851, ISSN 0340-5354
Publisher: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-021-10524-7
Author(s): Matthew J. Jennings, Angela Lochmüller, Antonio Atalaia, Rita Horvath
Published in: Journal of Neuromuscular Diseases, 2020, Page(s) 1-18, ISSN 2214-3599
Publisher: IOSPress
DOI: 10.3233/jnd-200546
Author(s): Marouane A, Olde Keizer RACM, Frederix GWJ, Vissers LELM, de Boode WP, van Zelst-Stams WAG.
Published in: European Journal of Pedriatrics, 2022, ISSN 0340-6199
Publisher: Springer Verlag
DOI: 10.1007/s00431-021-04213-w
Author(s): Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A.
Published in: J Pathol., 2022, ISSN 0022-3417
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/path.5812
Author(s): Garcia-Pelaez, J., Barbosa-Matos, R., São José, C., Sousa, S., Gullo, I., Hoogerbrugge, N., Carneiro, F., Oliveira, C
Published in: European Journal of Medical Genetics, 2022, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1016/j.ejmg.2021.104401
Author(s): Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick J. Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R. F. Reijnders, Alison Yeung, Helger G. Yntema, Lisenka E. L. M. Vissers,
Published in: Nature, 586/7831, 2020, Page(s) 757-762, ISSN 0028-0836
Publisher: Nature Publishing Group
DOI: 10.1038/s41586-020-2832-5
Author(s): Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux, Valentina Stanley, Andreea Manole, Ugur Akpulat, Marjan M Weiss, Stephanie Efthymiou, Michael G Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Peter Nürnberg, Holger Thiele, Uluc Yis, Tuncay
Published in: AJHG, 2018, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.002
Author(s): van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibol
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.02.014
Author(s): Jackson A, Banka S, Stewart H; Genomics England Research Consortium, Robinson H, Lovell S, Clayton-Smith J.
Published in: American Journal of Medical Genetics Part A, 2021, ISSN 1552-4833
Publisher: Wiley Periodicals, LLC.
DOI: 10.1002/ajmg.a.62370
Author(s): Chiara Passarelli, Rita Selvatici, Alberto Carrieri, Francesca Romana Di Raimo, Maria Sofia Falzarano, Fernanda Fortunato, Rachele Rossi, Volker Straub, Katie Bushby, Mojgan Reza, Irina Zharaieva, Adele D’Amico, Enrico Bertini, Luciano Merlini, Patrizia Sabatelli, Paola Borgiani, Giuseppe Novelli, Sonia Messina, Marika Pane, Eugenio Mercuri, Mireille Claustres, Sylvie Tuffery-Giraud, Annemieke A
Published in: Frontiers in Genetics, 11, 2020, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2020.00605
Author(s): Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets,
Published in: Neurology Genetics, Feb 2021, 7 (1) e536, 2021, Page(s) 14, ISSN 2376-7839
Publisher: American Academy of Neurology
DOI: 10.1212/nxg.0000000000000536
Author(s): an der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere
T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste
T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen
Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers
CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG,
Netea M
Published in: JAMA, 2020, ISSN 0098-7484
Publisher: American Medical Association
DOI: 10.1001/jama.2020.13719
Author(s): Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan
Published in: Brain, 144(5), 2021, Page(s) 1422–1434, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab041
Author(s): Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Nicole A Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M Brower, Tiffany J Callahan, Christopher G Chute, Johanna L Est, Peter D Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Julia Pazmandi, Marc Hanauer, Nomi L Harris, Michael J Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongq
Published in: Nucleic Acids Research, 2021, Vol. 49, 2021 Jan 8, 2021, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkaa1043
Author(s): Maria Elena Onore,Annalaura Torella,Francesco Musacchia,Paola D’Ambrosio,Mariateresa Zanobio, Francesca Del Vecchio Blanco,Giulio Piluso, Vincenzo Nigro
Published in: Genes, 2021, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12020133
Author(s): Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S. Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Eva Trochu, Virginie Vignard, Fatima El It, Lance H. Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis D
Published in: The American Journal of Human Genetics, 109, 2022, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.08.008
Author(s): Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley & Peter N. Robinson
Published in: Genome Medicine, 2022, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-022-01046-6
Author(s): Jonas Van Lent, Peter Verstraelen, Bob Asselbergh, Elias Adriaenssens, Ligia Mateiu, Christophe Verbist, Vicky De Winter, Kristel Eggermont, Ludo Van Den Bosch, Winnok H De Vos, Vincent Timmerman
Published in: Brain, 144(8), 2021, Page(s) 2471-2485, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab226
Author(s): Marco Savarese, Anna Vihola, Manu E. Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Annalaura Torella, Mridul Johari, Marina Scarlato, Per Harald Jonson, Maria Elena Onore, Peter Hackman, Mathias Gautel, Vincenzo Nigro, Stefano Carlo Previtali, Bjarne Udd
Published in: Neurology Genetics, 2021, Page(s) e619, ISSN 2376-7839
Publisher: American Accademy of Neurology
DOI: 10.1212/nxg.0000000000000619
Author(s): Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND; Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium.
Published in: Eur J Hum Genet, 29, 2021, Page(s) 1332–1336, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00901-1
Author(s): Sommer AK, Te Paske IBAW, Garcia-Pelaez J, Laner A, Holinski-Feder E, Steinke-Lange V, Peters S, Valle L, Spier I, Huntsman D; Solve-RD-GENTURIS group, Oliveira C, de Voer RM, Hoogerbrugge N, Aretz S
Published in: Eur J Med Genet, 2022, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1016/j.ejmg.2022.104475
Author(s): Geeske M. van Woerden; Melanie Bos; Charlotte de Konink; Ben Distel; Ben Distel; Rossella Avagliano Trezza; Natasha Shur; Kristin W. Barañano; Sonal Mahida; Anna Chassevent; Allison Schreiber; Angelika Erwin; Karen W. Gripp; Fatima Rehman; Saskia Brulleman; Róisín McCormack; Gwynna de Geus; Louisa Kalsner; Arthur Sorlin; Ange Line Bruel; David A. Koolen; Melissa K. Gabriel; Mari Rossi; David R.
Published in: VOLUME=42;ISSUE=4;STARTPAGE=445;ENDPAGE=459;ISSN=1059-7794;TITLE=Human mutation, 16, 2021, ISSN 1098-1004
Publisher: John Wiley & Sons
DOI: 10.1002/humu.24176
Author(s): Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM.
Published in: European Journal of Human Genetics, 2022, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00960-4
Author(s): Alessia Costa, Věra Franková, Glenn Robert, Milan Macek, Christine Patch, Elizabeth Alexander, Anna Arellanesova, Jill Clayton-Smith, Amy Hunter, Markéta Havlovicová, Radka Pourová, Marie Pritchard, Lauren Roberts, Veronika Zoubková, Alison Metcalfe
Published in: Journal of Community Genetics, 2022, ISSN 1868-310X
Publisher: Springer Verlag
DOI: 10.1007/s12687-022-00589-w
Author(s): Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie
Published in: Orphanet Journal of Rare Diseases, 15/1, 2020, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-020-01493-7
Author(s): Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman
Published in: Genetics in Medicine, 2021, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-021-01260-4
Author(s): Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartagli
Published in: European Journal of Human Genetics, 2020, Page(s) 1602–1614, ISSN 1476-5438
Publisher: Springer Nature
DOI: 10.1038/s41431-020-0691-z
Author(s): Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium, Elpeleg O, Taylor JC, Banka S, Ta-Shma A.
Published in: Clinical Genetics, 2021, ISSN 1399-0004
Publisher: John Wiley & Sons Ltd
DOI: 10.1111/cge.14071
Author(s): Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca
Published in: Neurology, 97(23), 2021, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000012962
Author(s): Andre Altmann, David M Cash, Martina Bocchetta, Carolin Heller, Regina Reynolds, Katrina Moore, Rhian S Convery, David L Thomas, John C van Swieten, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tag
Published in: Brain Communications, 2/2, 2020, ISSN 2632-1297
Publisher: Oxford University Press
DOI: 10.1093/braincomms/fcaa122
Author(s): Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk
Published in: American Journal of Human Genetics, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.04.008
Author(s): Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2021.10.014
Author(s): Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler
Published in: The Journal of Molecular Diagnostics, 22/9, 2020, Page(s) 1205-1215, ISSN 1525-1578
Publisher: American Society for Investigative Pathology
DOI: 10.1016/j.jmoldx.2020.06.008
Author(s): Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, Roos A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Töpf A, Straub V
Published in: Neuropediatrics, 2021, ISSN 0174-304X
Publisher: Georg Thieme Verlag
DOI: 10.1055/s-0040-1715625
Author(s): Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad
Published in: Genome Medicine, 2021, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-021-00900-3
Author(s): Matthis Synofzik, Hélène Puccio, Fanny Mochel, Ludger Schöls
Published in: Neuron, 101/4, 2019, Page(s) 560-583, ISSN 0896-6273
Publisher: Cell Press
DOI: 10.1016/j.neuron.2019.01.049
Author(s): Mallory Ann Freeberg, Lauren A Fromont, Teresa D’Altri, Anna Foix Romero, Jorge Izquierdo Ciges, Aina Jene, Giselle Kerry, Mauricio Moldes, Roberto Ariosa, Silvia Bahena, Daniel Barrowdale, Marcos Casado Barbero, Dietmar Fernandez-Orth, Carles Garcia-Linares, Emilio Garcia-Rios, Frédéric Haziza, Bela Juhasz, Oscar Martinez Llobet, Gemma Milla, Anand Mohan, Manuel Rueda, Aravind Sankar, Dona Sh
Published in: Nucleic Acids Research, 50/D1, 2021, Page(s) D980–D987, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkab1059
Author(s): Sebastian Köhler
Published in: Database, 2018/1, 2018, ISSN 1758-0463
Publisher: Oxford University Press
DOI: 10.1093/database/bay026
Author(s): Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Published in: BMC Neurology, 18/1, 2018, ISSN 1471-2377
Publisher: BioMed Central
DOI: 10.1186/s12883-018-1180-7
Author(s): Michiel Krols, Bob Asselbergh, Riet De Rycke, Vicky De Winter, Alexandre Seyer, Franz-Josef Müller, Ingo Kurth, Geert Bultynck, Vincent Timmerman, Sophie Janssens
Published in: Human Molecular Genetics, 28/4, 2018, Page(s) 615-627, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddy352
Author(s): 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 M
Published in: Nature Communications, 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-018-07953-w
Author(s): Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Published in: Journal of Neurology, Neurosurgery & Psychiatry, 90/1, 2018, Page(s) 58-67, ISSN 0022-3050
Publisher: BMJ Publishing Group
DOI: 10.1136/jnnp-2018-318834
Author(s): Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz-Wagenblatt, Vincent Timmerman, Nathalie Bonello-Palot, Beate Schlotter-Weigel, Michaela Auer-Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiss, Eric Mah, Nina Weisshaar, Alaa Madi, Kerstin Mohr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeiste
Published in: Immunity, 50/5, 2019, Page(s) 1218-1231.e5, ISSN 1074-7613
Publisher: Cell Press
DOI: 10.1016/j.immuni.2019.03.005
Author(s): Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S. R. Wayne Chen, Ludger Schöls, Rebecca Schüle
Published in: European Journal of Human Genetics, 26/11, 2018, Page(s) 1623-1634, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-018-0206-3
Author(s): Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Published in: Autophagy, 15/6, 2019, Page(s) 1051-1068, ISSN 1554-8627
Publisher: Landes Bioscience
DOI: 10.1080/15548627.2019.1569930
Author(s): Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller
Published in: Emerging Topics in Life Sciences, 3/1, 2019, Page(s) 19-37, ISSN 2397-8554
Publisher: Portland Press
DOI: 10.1042/etls20180100
Author(s): Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published in: Orphanet Journal of Rare Diseases, 13/1, 2018, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-018-0955-7
Author(s): Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
Published in: Skeletal Muscle, 9/1, 2019, ISSN 2044-5040
Publisher: BioMed Central
DOI: 10.1186/s13395-019-0199-9
Author(s): Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Published in: Expert Review of Neurotherapeutics, 19/5, 2019, Page(s) 409-415, ISSN 1473-7175
Publisher: Future Drugs Ltd.
DOI: 10.1080/14737175.2019.1608824
Author(s): Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstoc
Published in: Neurology, 92/23, 2019, Page(s) e2679-e2690, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000007606
Author(s): Maxime Boutry, Sara Morais, Giovanni Stevanin
Published in: Current Neurology and Neuroscience Reports, 19/4, 2019, ISSN 1528-4042
Publisher: Current Science Inc.
DOI: 10.1007/s11910-019-0930-2
Author(s): Mohammad Ali Farazi Fard, Adriana P. Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez-Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole B. Martuscelli, Dana M. Bis-Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra
Published in: The American Journal of Human Genetics, 104/4, 2019, Page(s) 767-773, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.03.001
Author(s): María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Published in: Orphanet Journal of Rare Diseases, 14/1, 2019, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-018-0985-1
Author(s): 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 Bergers
Published in: Nucleic Acids Research, 47/D1, 2018, Page(s) D1018-D1027, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gky1105
Author(s): Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A. C. ’t Hoen, Paolo Missier, Hanns Lochmüller
Published in: Human Mutation, 2019, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.23792
Author(s): Annemieke Aartsma-Rus, Alessandra Ferlini, Elizabeth M. McNally, Pietro Spitali, H. Lee Sweeney, Annemieke M. Aartsma-Rus, Christina Al-Khalili Szigyarto, Luca Bello, Abby Bronson, Kristy Brown, Filippo Buccella, Jessica Chadwick, Alessandra Ferlini, Diane Frank, Eric Hoffman, Jane Larkindale, G. McClorey, Elizabeth McNally, Rick Munschauer, Francesco Muntoni, Jane Owens, Ulrike Schara, Pietro Spi
Published in: Neuromuscular Disorders, 28/1, 2018, Page(s) 77-86, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2017.10.002
Author(s): Daniela Hombach, Jana M. Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
Published in: Clinical Genetics, 95/2, 2019, Page(s) 287-292, ISSN 0009-9163
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/cge.13471
Author(s): Jana Marie Schwarz, Daniela Hombach, Sebastian Köhler, David N Cooper, Markus Schuelke, Dominik Seelow
Published in: Nucleic Acids Research, 47/W1, 2019, Page(s) W106-W113, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkz327
Author(s): Tuomo Mantere, Simone Kersten, Alexander Hoischen
Published in: Frontiers in Genetics, 10, 2019, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2019.00426
Author(s): Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi
Published in: Genome Medicine, 11/1, 2019, ISSN 1756-994X
Publisher: BioMed Central
DOI: 10.1186/s13073-019-0649-3
Author(s): Judith E. Grolleman, Marcos Díaz-Gay, Sebastià Franch-Expósito, Sergi Castellví-Bel, Richarda M. de Voer
Published in: Molecular Aspects of Medicine, 2019, ISSN 0098-2997
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.mam.2019.05.002
Author(s): Vendredy, Leen; Adriaenssens, Elias; Timmerman, Vincent
Published in: Cell stress and chaperones, 6, 2020, ISSN 1466-1268
Publisher: Springer Nature
DOI: 10.1007/s12192-020-01101-4
Author(s): Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Published in: BMC Medical Genetics, 20/1, 2019, ISSN 1471-2350
Publisher: BioMed Central
DOI: 10.1186/s12881-019-0795-x
Author(s): Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schö
Published in: EMBO Molecular Medicine, 12/7, 2020, ISSN 1757-4676
Publisher: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201911803
Author(s): Willem De Ridder, Peter De Jonghe, Volker Straub, Jonathan Baets
Published in: Neuromuscul Disord, 31(11), 2021, Page(s) 1154-1160, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2021.04.010
Author(s): Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter Jonghe, Willem Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjami
Published in: Annals of Neurology, 88/2, 2020, Page(s) 251-263, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.25751
Author(s): Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath
Published in: Brain, 2022, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awac055
Author(s): Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B. Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bja
Published in: Acta Neuropathologica, 2021, Page(s) 375–393, ISSN 1432-0533
Publisher: Springer Nature
DOI: 10.1007/s00401-021-02319-x
Author(s): Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Pa
Published in: The American Journal of Human Genetics, 107/1, 2020, Page(s) 164-172, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2020.05.017
Author(s): Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F
Published in: Hum Mutat, 2022, ISSN 1098-1004
Publisher: Wiley Periodicals, LLC
DOI: 10.1002/humu.24333
Author(s): Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC.
Published in: Developmental Medicine & Child Neurology, 2021, ISSN 0012-1622
Publisher: Mac Keith Press
DOI: 10.1111/dmcn.14989
Author(s): Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Leslie Matalonga, Uluc Yis, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pinar Pulat Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O'Heir, Alysia K Lovgren, Broad Center for Mendelian Geno
Published in: Brain, 145, 2022, Page(s) 1507–1518, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab395
Author(s): Elias Adriaenssens, Barbara Tedesco, Laura Mediani, Bob Asselbergh, Valeria Crippa, Francesco Antoniani, Serena Carra, Angelo Poletti, Vincent Timmerman
Published in: Scientific Reports, 10/1, 2020, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-020-65664-z
Author(s): Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Nadja Lucas, Florian Harmuth, Jennifer Reichbauer, Ingeborg Krägeloh-Mann, Rebecca Schüle, Min Ae Lee-Kirsch
Published in: Neurology Genetics, 6/1, 2019, Page(s) e384, ISSN 2376-7839
Publisher: Wolters Kluwer
DOI: 10.1212/nxg.0000000000000384
Author(s): Andreas Traschütz, MD, PhD, Andrea Cortese, MD, PhD, Selina Reich, MSc, Natalia Dominik, MSc, Jennifer Faber, MD, Heike Jacobi, MD, Annette M. Hartmann, PhD, Dan Rujescu, MD, Solveig Montaut, MD, Andoni Echaniz-Laguna, MD, Sevda Erer, MD, Valerie Cornelia Schütz, MD, Alexander A. Tarnutzer, MD, Marc Sturm, PhD, Tobias B. Haack, MD, Nadège Vaucamps-Diedhiou, MSc, Helene Puccio, PhD, Ludger Schö
Published in: Neurology, Mar 2; 96(9), 2021, Page(s) e1369–e1382, ISSN 0028-3878
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1212/wnl.0000000000011528
Author(s): Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer
Published in: Stem Cell Research, 35, 2019, Page(s) 101336, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2018.10.021
Author(s): Frédéric Darios, Giovanni Stevanin
Published in: Journal of Molecular Biology, 432/8, 2020, Page(s) 2714-2734, ISSN 0022-2836
Publisher: Academic Press
DOI: 10.1016/j.jmb.2020.02.033
Author(s): Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G.
Published in: BRAIN, 2022, Page(s) 145(3):1029-1037, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab386
Author(s): Marc Pauper, Erdi Kucuk, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel R. Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E. L. M. Vissers, Christian Gilissen
Published in: European Journal of Human Genetics, 2020, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-020-00770-0
Author(s): Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Sc
Published in: Nature Medicine, 2021, ISSN 1078-8956
Publisher: Nature Publishing Group
DOI: 10.1038/s41591-021-01346-1
Author(s): Steven Laurie,Davide Piscia,Leslie Matalonga,Alberto Corvó,Marcos Fernández-Callejo,Carles Garcia-Linares,Carles Hernandez-Ferrer,Cristina Luengo,Inés Martínez,Anastasios Papakonstantinou,Daniel Picó-Amador,Joan Protasio,Rachel Thompson,Raul Tonda,Mònica Bayés,Gemma Bullich,Jordi Camps-Puchadas,Ida Paramonov,Jean-Rémi Trotta,Angel Alonso,Marcella Attimonelli,Christophe Béroud,Virginie Bro
Published in: Human Mutation, 17/02/2022, 2022, Page(s) 659-667, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.24353
Author(s): Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
Published in: Journal of Neurology, 267/12, 2020, Page(s) 3643-3649, ISSN 0340-5354
Publisher: Dr. Dietrich Steinkopff Verlag
DOI: 10.1007/s00415-020-10059-3
Author(s): Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas
Published in: Nature Communications, 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-019-12620-9
Author(s): Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consor
Published in: The American Journal of Human Genetics, 2021, ISSN 1537-6605
Publisher: Cell Press
DOI: 10.1016/j.ajhg.2021.04.024
Author(s): Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L. Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria L. Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melz
Published in: Annals of Neurology, 88/1, 2020, Page(s) 18-32, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.25723
Author(s): Tim W Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S Söhn, Konstanze Hörtnagel, Kathrin N Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler-Neumann, Ingeborg Krägeloh-Mann, Michaela Auer-Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne-Katrin Giese, Jan L De Bleecker, Els Ortibus, Martine Debyser, Adolfo Lopez de Munain,
Published in: Brain, 142/6, 2019, Page(s) 1561-1572, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awz102
Author(s): Julius O. B. Jacobsen, Michael Baudis, Gareth S. Baynam, Jacques S. Beckmann, Sergi Beltran, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, Kevin C. Kent Lloyd, Aly Khalifa, Peter M. Krawitz, Sebastian Köhler, Bri
Published in: Nature Biotechnology, VOL 40, June 2022, 2022, Page(s) 815–820, ISSN 1087-0156
Publisher: Nature Publishing Group
DOI: 10.1038/s41587-022-01357-4
Author(s): Beijer, Danique; Sisto, Angela; Van Lent, Jonas; Baets, Jonathan; Timmerman, Vincent
Published in: Journal of Neuromuscular Diseases, 11, 2019, Page(s) 401–419, ISSN 2214-3599
Publisher: IOS Press
DOI: 10.3233/JND-190427
Author(s): Carlo Wilke MD,Selina Reich MSc,John C. van Swieten MD, PhD,Barbara Borroni MD, PhD,Raquel Sanchez-Valle MD,Fermin Moreno MD, PhD,Robert Laforce MD, PhD,Caroline Graff MD, PhD,Daniela Galimberti PhD,James B. Rowe MD, PhD,Mario Masellis MD, PhD,Maria C. Tartaglia MD,Elizabeth Finger MD,Rik Vandenberghe MD, PhD,Alexandre de Mendonça MD, PhD,Fabrizio Tagliavini MD,Isabel Santana MD, PhD,Simon Duchar
Published in: Annals of Neurology, Volume 91, Issue 1, 2022, Page(s) p. 33-47, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26265
Author(s): Jean‐Madeleine de Sainte Agathe, Sandra Mercier, Jean‐Yves Mahé, Yann Péréon, Julien Buratti, Laurène Tissier, Bophara Kol, Samia Ait Said, Éric Leguern, Guillaume Banneau, Giovanni Stévanin
Published in: Movement Disorders, 2020, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.28371
Author(s): Danique Beijer, Maike F Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets
Published in: Eur J Neurol, 29(7), 2022, Page(s) 2156-2161, ISSN 1351-5101
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/ene.15310
Author(s): Elke de Boer; Burcu Yaldiz; Anne-Sophie Denommé-Pichon; Leslie Matalonga; Steve Laurie; Wouter Steyaert; Rick de Reuver; Christian Gilissen; Michael Kwint; Rolph Pfundt; Alain Verloes; Michèl A.A.P. Willemsen; Bert B.A. de Vries; A. Vitobello; Tjitske Kleefstra; Lisenka E.L.M. Vissers; Elke de Boer; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne-Sophie Denommé-Pichon; Fei Gao; Christian Gilissen
Published in: European Journal of Medical Genetics, 20, 2022, ISSN 1769-7212
Publisher: Elsevier BV
DOI: 10.1016/j.ejmg.2021.104402
Author(s): Yavuz Oktay, Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Ludger Schöls, Ece Sonmezler, Elmasnur Yilmaz, Benjamin Munro, Benjamin Bender, Christoph Kernstock, Sofie Kaemereit, Inga Liepelt, Ana Töpf, Uluc Yis, Steven Laurie, Ahmet Yaramis, Stephan Zuchner, Semra Hiz, Hanns Lochmüller, Rebecca Schüle, Rita Horvath
Published in: Journal of Neuromuscular Diseases, 7/3, 2020, Page(s) 301-308, ISSN 2214-3599
Publisher: IOS Press
DOI: 10.3233/jnd-200510
Author(s): van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-
Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S,
Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G,
Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N,
Brunner HG, van Rooij IALM, Hoischen A.
Published in: Frontiers in Pediatrics, 2020, ISSN 2296-2360
Publisher: Frontiers
DOI: 10.3389/fped.2020.00310
Author(s): Adriana P. Rebelo; Ilse Eidhof; Vívian Pedigone Cintra; Lena Guillot-Noel; Claudia V. Pereira; Dagmar Timmann; Andreas Traschütz; Andreas Traschütz; Ludger Schöls; Ludger Schöls; Giulia Coarelli; Alexandra Durr; Mathieu Anheim; Christine Tranchant; Bart P.C. van de Warrenburg; Claire Guissart; Michel Koenig; Jack Howell; Carlos T. Moraes; Annette Schenck; Giovanni Stevanin; Stephan Züchner;
Published in: Brain, 144,, 50, 2021, Page(s) 1467 - 1481, ISSN 0006-8950
Publisher: Oxford University Press
DOI: 10.1093/brain/awab071
Author(s): Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A Hamed, Inaam N Mohammed, Maha A Elseed, Aisha M Bakhiet, Lena Guillot-Noel, Fatima Abozar, Rawaa Adil, Sara Emad, Rayan Abubaker, Mhammed Alhassan Musallam, Isra Z M Eltazi, Zulfa Omer, Omer M Maaroof, Amal Soussi, Amal Bouzid, Sana Kmiha, Hassen Kamoun, Mustafa A Salih, Ammar E Ahmed, Liena Elsayed, Saber Masmoudi, Giovanni Stevani
Published in: Ann Hum Genet, 86(4), 2022, Page(s) 181-194, ISSN 1469-1809
Publisher: John Wiley & Sons Ltd/University College London
DOI: 10.1111/ahg.12460
Author(s): Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro
Published in: PLOS ONE, 15/8, 2020, Page(s) e0237803, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0237803
Author(s): Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Solve-RD SNV-indel working group, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E. L. M. Vissers, Richarda de Voer, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Co
Published in: European Journal of Human Genetics, 29, 2021, Page(s) 1337–1347, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-021-00852-7
Author(s): Maria S. Falzarano,1,10 Andrea Grilli,2,10 Silvia Zia,3 Mingyan Fang,4 Rachele Rossi,1
Francesca Gualandi,1 Paola Rimessi,1 Reem El Dani,1 Marina Fabris,1 Zhiyuan Lu,4 Wenyan Li,4
Tiziana Mongini,5 Federica Ricci,5 Elena Pegoraro,6 Luca Bello,6 Andrea Barp,7 Valeria A. Sansone,7
Madhuri Hegde,8 Barbara Roda,3,9 Pierluigi Reschiglian,3,9 Silvio Bicciato,2 Rita Selvatici,1
and Alessandra Ferlini1,*
Published in: Human Genetics and Genomics Advances, 3, 100054, January 13, 2022, 2022, Page(s) 18, ISSN 2666-2477
Publisher: Cell Press Elsevier Inc.
DOI: 10.1016/j.xhgg.2021.100054
Author(s): Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W Rattay, María-Jesús Sobrido, Gi
Published in: Mov Disord, 37(6), 2022, Page(s) 1175-1186, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.28959
Author(s): Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Published in: Frontiers in Neuroscience, 14, 2020, ISSN 1662-453X
Publisher: Frontiers
DOI: 10.3389/fnins.2020.00074
Author(s): Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole Leeuw, Brigitte Faas, Thatjana Gardeitchik, Suzanne C. E. H. Sallevelt, Aimee Paulussen, Servi J. C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E. L. M. Vissers, Helger G. Ynt
Published in: Prenatal Diagnosis, 40/8, 2020, Page(s) 972-983, ISSN 0197-3851
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/pd.5717
Author(s): Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps
Published in: Neurology Genetics, 5/6, 2019, Page(s) e374, ISSN 2376-7839
Publisher: Wolters Kluwer Health, Inc
DOI: 10.1212/nxg.0000000000000374
Author(s): Dingemans AJM, Hinne M, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, van Bon BW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, van Gerven MAJ, Vissers LELM, de Vries BBA.
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2021.10.019
Author(s): German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski
Published in: Mol Genet Genomic Med, 9, 2021, ISSN 2324-9269
Publisher: Wiley Periodicals, LLC.
DOI: 10.1002/mgg3.1807
Author(s): Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Published in: Frontiers in Neurology, 11, 2020, ISSN 1664-2295
Publisher: Frontiers Research Foundation
DOI: 10.3389/fneur.2020.569996
Author(s): Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, 30/12, 2020, Page(s) 1008-1048, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2020.11.009
Author(s): Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
Published in: Neuromuscular Disorders, 29/12, 2019, Page(s) 980-1018, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2019.10.010
Author(s): Gulcin Gumus, Stephanie Broley , Christine Patch , Marisol Montolio del Olmo, Kym Boycott, Laurence Faivre, Birte Zurek, Milan Macek, Holm Graessner, Simona Bellagambi, Daphne Stemkens, Cathalijne van Doorne, Alison Metcalfe, Alessia Costa, Glenn Robert, Lauren Roberts, Marie Pritchard, Hans Scheffer, Vanessa Boulanger, Janine Lewis, Helen Cederroth, Mikk Cederroth, Patricia Arias, Virginie Bros F
Published in: European Society of Human Genetics Conference 2020, P22.61.A, 2020
Publisher: EURORDIS-Rare Diseases Europe
Author(s): Gulcin Gumus, Stephanie Broley , Christine Patch , Marisol Montolio del Olmo, Kym Boycott, Laurence Faivre, Birte Zurek, Milan Macek, Holm Graessner, Simona Bellagambi, Daphne Stemkens, Cathalijne van Doorne, Alison Metcalfe, Alessia Costa, Glenn Robert, Lauren Roberts, Marie Pritchard, Hans Scheffer, Vanessa Boulanger, Janine Lewis, Helen Cederroth, Mikk Cederroth, Patricia Arias, Virginie Bros F
Published in: European Conference on Rare Diseases 2020, P031, 2020
Publisher: EURORDIS-Rare Diseases Europe