dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Gillentine, Madelyn A. |
dc.contributor.author | Wang, Tianyun |
dc.contributor.author | Hoekzema, Kendra |
dc.contributor.author | Rosenfeld, Jill |
dc.contributor.author | Liu, Pengfei |
dc.contributor.author | Guo, Hui |
dc.contributor.author | Thevenon, Julien |
dc.date.accessioned | 2021-12-17T11:56:24Z |
dc.date.available | 2021-12-17T11:56:24Z |
dc.date.issued | 2021-04-19 |
dc.identifier.citation | Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, et al. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 Apr 19;13:63. |
dc.identifier.issn | 1756-994X |
dc.identifier.uri | https://hdl.handle.net/11351/6710 |
dc.description | Famílies genètiques; Trastorns del desenvolupament neurològic; HnRNPs |
dc.description.sponsorship | This work was supported, in part, by the U.S. National Institutes of Health (R01MH101221) to E.E.E. Research reported in this publication was supported, in part, by the National Institute of Neurological Disorders and Stroke (NINDS) under award number K08NS092898, Jordan’s Guardian Angels, and the Brotman Baty Institute (to G.M.M.). M.I., A.C., and A.S. were supported by the G.E.N.E. (Genomic analysis Evaluation Network) Research Project founded by Progetti di Innovazione in Ambito Sanitario e Socio Sanitario (Bando EX decreto n.2713 28.02.2018) Regione Lombardia. D. L was supported by the German Research Foundation (DFG; LE 4223/1). B.B.A.d.V. and L.E.L.M.V. were supported by grants from the Dutch Organization for Health Research and Development (ZON-MW grants 917–86–319 and 912–12–109). M.E., O.G., and C.R. received funding from the Italian Ministry of Health (Project RC n. 2757328). I.T. is supported by generous donors to the Children’s Mercy Research Institute and the Genomic Answers for Kids program. K.X. is supported by the National Natural Science Foundation of China (NSFC: 8173000779) and the Science and Technology Major Project of Hunan Provincial Science and Technology Department (2018SK1030). M.A.G. was supported by the U.S. National Institutes of Health (T32HG000035). E.E.E. is an investigator of the Howard Hughes Medical Institute. |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Genome Medicine;13 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties mentals - Aspectes genètics |
dc.subject | Neurogenètica |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Genomics |
dc.subject.mesh | /methods |
dc.title | Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13073-021-00870-6 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | genómica |
dc.subject.decs | /métodos |
dc.relation.publishversion | https://doi.org/10.1186/s13073-021-00870-6 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Gillentine MA, Wang T, Hoekzema K] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. [Rosenfeld J] Baylor Genetics Laboratories, Houston, TX, USA. Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA. [Liu P] Baylor Genetics Laboratories, Houston, TX, USA. [Guo H] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. [Thevenon J] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 33874999 |
dc.identifier.wos | 000641712700001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |