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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

Autor: Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

In the original publication of the article, consortium author lists were missing in the article. The details are given below

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::2d7bea272c029024735967dae37cd48c
http://hdl.handle.net/11591/463932

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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Autor: Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G

Publikováno v: Vos, JR, Giepmans, L, Röhl, C, Geverink, N, Hoogerbrugge, N, ERN, GENTURIS & Evans, D G 2019, ' Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. ', Familial Cancer . https://doi.org/10.1007/s10689-018-0110-6
Familial Cancer, 18(2), 281-284. SPRINGER
Familial Cancer, 18(2), 281-284. Springer Netherlands
Familial Cancer
Familial Cancer, 18, 281-284
Familial Cancer, 18, 2, pp. 281-284
FAMILIAL CANCER

Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee01440d9c450a349db2b80095a24994
http://europepmc.org/abstract/med/30302652

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Autor: Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Billington CJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA., Barkovich AJ; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA., Dinkel P; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Heide M; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany., Gershon ES; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Hopkin RJ; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA., Jacob S; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA., Keedy SK; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Kooshavar D; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lockhart PJ; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lohmann DR; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany., Mahmoud IG; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Schrock E; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Severi G; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia., Willis MJH; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA., Zaki MS; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287.