{"tmp":{"image":"/images/cc_by.png","short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"date_updated":"2023-09-11T14:04:41Z","citation":{"apa":"Tarlungeanu, D.-C., & Novarino, G. (2018). Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. Springer Nature. https://doi.org/10.1038/s12276-018-0129-7","ieee":"D.-C. Tarlungeanu and G. Novarino, “Genomics in neurodevelopmental disorders: an avenue to personalized medicine,” Experimental & Molecular Medicine, vol. 50, no. 8. Springer Nature, 2018.","ama":"Tarlungeanu D-C, Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 2018;50(8). doi:10.1038/s12276-018-0129-7","ista":"Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 50(8), 100.","short":"D.-C. Tarlungeanu, G. Novarino, Experimental & Molecular Medicine 50 (2018).","chicago":"Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental Disorders: An Avenue to Personalized Medicine.” Experimental & Molecular Medicine. Springer Nature, 2018. https://doi.org/10.1038/s12276-018-0129-7.","mla":"Tarlungeanu, Dora-Clara, and Gaia Novarino. “Genomics in Neurodevelopmental Disorders: An Avenue to Personalized Medicine.” Experimental & Molecular Medicine, vol. 50, no. 8, 100, Springer Nature, 2018, doi:10.1038/s12276-018-0129-7."},"doi":"10.1038/s12276-018-0129-7","intvolume":" 50","type":"journal_article","title":"Genomics in neurodevelopmental disorders: an avenue to personalized medicine","pmid":1,"issue":"8","abstract":[{"lang":"eng","text":"Despite the remarkable number of scientific breakthroughs of the last 100 years, the treatment of neurodevelopmental\r\ndisorders (e.g., autism spectrum disorder, intellectual disability) remains a great challenge. Recent advancements in\r\ngenomics, such as whole-exome or whole-genome sequencing, have enabled scientists to identify numerous\r\nmutations underlying neurodevelopmental disorders. Given the few hundred risk genes that have been discovered,\r\nthe etiological variability and the heterogeneous clinical presentation, the need for genotype — along with phenotype-\r\nbased diagnosis of individual patients has become a requisite. In this review we look at recent advancements in\r\ngenomic analysis and their translation into clinical practice."}],"quality_controlled":"1","isi":1,"department":[{"_id":"GaNo"}],"file_date_updated":"2020-07-14T12:47:13Z","year":"2018","volume":50,"user_id":"c635000d-4b10-11ee-a964-aac5a93f6ac1","oa":1,"day":"07","status":"public","publication":"Experimental & Molecular Medicine","_id":"5888","scopus_import":"1","date_created":"2019-01-27T22:59:11Z","ddc":["570"],"language":[{"iso":"eng"}],"external_id":{"pmid":["30089840"],"isi":["000441266700006"]},"file":[{"access_level":"open_access","creator":"dernst","checksum":"4498301c8c53097c9a1a8ef990936eb5","file_size":1237482,"file_id":"5893","file_name":"2018_EMM_Tarlungeanu.pdf","date_updated":"2020-07-14T12:47:13Z","relation":"main_file","date_created":"2019-01-28T15:18:02Z","content_type":"application/pdf"}],"author":[{"last_name":"Tarlungeanu","first_name":"Dora-Clara","id":"2ABCE612-F248-11E8-B48F-1D18A9856A87","full_name":"Tarlungeanu, Dora-Clara"},{"full_name":"Novarino, Gaia","orcid":"0000-0002-7673-7178","id":"3E57A680-F248-11E8-B48F-1D18A9856A87","first_name":"Gaia","last_name":"Novarino"}],"publisher":"Springer Nature","oa_version":"Published Version","month":"08","article_number":"100","publication_identifier":{"issn":["2092-6413"]},"publication_status":"published","article_processing_charge":"No","date_published":"2018-08-07T00:00:00Z","has_accepted_license":"1"}