{"id":"https://openalex.org/W4400940889","doi":"https://doi.org/10.3390/genes15070956","title":"Rare Variants of the SMN1 Gene Detected during Neonatal Screening","display_name":"Rare Variants of the SMN1 Gene Detected during Neonatal Screening","publication_year":2024,"publication_date":"2024-07-21","ids":{"openalex":"https://openalex.org/W4400940889","doi":"https://doi.org/10.3390/genes15070956","pmid":"https://pubmed.ncbi.nlm.nih.gov/39062735","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11275604"},"language":"en","primary_location":{"id":"doi:10.3390/genes15070956","doi":"https://doi.org/10.3390/genes15070956","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/genes15070956","pdf_url":"https://www.mdpi.com/2073-4425/15/7/956/pdf?version=1721539570","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2073-4425/15/7/956/pdf?version=1721539570","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073176116","display_name":"Maria Akhkiamova","orcid":"https://orcid.org/0000-0002-7244-9654","observed_orcids":["https://orcid.org/0000-0002-7244-9654"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Maria Akhkiamova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-7244-9654","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113951396","display_name":"Aleksander V. Polyakov","orcid":"https://orcid.org/0000-0002-0105-1833","observed_orcids":["https://orcid.org/0000-0002-0105-1833"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Aleksander Polyakov","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011001853","display_name":"\u041c\u0430\u0440\u0430\u0445\u043e\u043d\u043e\u0432 \u0410\u043d\u0434\u0440\u0435\u0439 \u0412\u043b\u0430\u0434\u0438\u043c\u0438\u0440\u043e\u0432\u0438\u0447","orcid":"https://orcid.org/0000-0002-0972-5118","observed_orcids":["https://orcid.org/0000-0002-0972-5118"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Andrey Marakhonov","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-0972-5118","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024085654","display_name":"Sergey V. Voronin","orcid":"https://orcid.org/0000-0002-9918-9565","observed_orcids":["https://orcid.org/0000-0002-9918-9565"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Sergey Voronin","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033205214","display_name":"Elena V. Saifullina","orcid":"https://orcid.org/0000-0001-9552-8948","observed_orcids":["https://orcid.org/0000-0001-9552-8948"]},"institutions":[{"id":"https://openalex.org/I4210120901","display_name":"Bashkir State Medical University","ror":"https://ror.org/02w1g0f30","country_code":"RU","type":"education","lineage":["https://openalex.org/I4210120901"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Elena Saifullina","raw_affiliation_strings":["Bashkir State Medical University, Lenin Str., 3, 450008 Ufa, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bashkir State Medical University, Lenin Str., 3, 450008 Ufa, Russia","institution_ids":["https://openalex.org/I4210120901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111267039","display_name":"Zulfiia Vafina","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086043","display_name":"Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan","ror":"https://ror.org/00dtsng04","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210086043"]},{"id":"https://openalex.org/I4405272019","display_name":"Government of the Republic of Tatarstan","ror":"https://ror.org/03eeyjx56","country_code":"RU","type":"government","lineage":["https://openalex.org/I4405272019"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Zulfiia Vafina","raw_affiliation_strings":["Republic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, Orenburgskiy Tract Str., 138, 420064 Kazan, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Republic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, Orenburgskiy Tract Str., 138, 420064 Kazan, Russia","institution_ids":["https://openalex.org/I4210086043","https://openalex.org/I4405272019"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027894331","display_name":"Kristina A. Mikhalchuk","orcid":"https://orcid.org/0000-0002-0394-7801","observed_orcids":["https://orcid.org/0000-0002-0394-7801"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Kristina Michalchuk","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-0394-7801","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064402885","display_name":"Svetlana I. Braslavskaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Svetlana Braslavskaya","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056087714","display_name":"Alena L. Chukhrova","orcid":"https://orcid.org/0000-0002-5474-4713","observed_orcids":["https://orcid.org/0000-0002-5474-4713"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Alena Chukhrova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080706648","display_name":"Nina V. Ryadninskaya","orcid":"https://orcid.org/0000-0003-2913-9594","observed_orcids":["https://orcid.org/0000-0003-2913-9594"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Nina Ryadninskaya","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083951919","display_name":"Sergey Ivanovich Kutsev","orcid":"https://orcid.org/0000-0002-3133-8018","observed_orcids":["https://orcid.org/0000-0002-3133-8018"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Sergey Kutsev","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040646030","display_name":"Olga Shchagina","orcid":"https://orcid.org/0000-0003-4905-1303","observed_orcids":["https://orcid.org/0000-0003-4905-1303"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Olga Shchagina","raw_affiliation_strings":["Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0003-4905-1303","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5073176116"],"corresponding_institution_ids":["https://openalex.org/I4210126689"],"apc_list":{"value":2600,"currency":"CHF","value_usd":2955},"apc_paid":{"value":2600,"currency":"CHF","value_usd":2955},"fwci":0.3541,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.52088248,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"15","issue":"7","first_page":"956","last_page":"956"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.8246999979019165,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.8246999979019165,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.16380000114440918,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/smn1","display_name":"SMN1","score":0.890999972820282},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7900000214576721},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.8399999737739563},{"id":"https://openalex.org/keywords/intronic-variants","display_name":"intronic variants","score":0.8769999742507935},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9660000205039978},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8500000238418579},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.38199999928474426},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.7089999914169312}],"concepts":[{"id":"https://openalex.org/C2778045022","wikidata":"https://www.wikidata.org/wiki/Q18031604","display_name":"SMN1","level":4,"score":0.9016364812850952},{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.7939517498016357},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.726683497428894},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6834766268730164},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5619744062423706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5505540370941162},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5265491604804993},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.48825907707214355},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.45724204182624817},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.4565543532371521},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.4112374186515808},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4078197479248047},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.368840754032135},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31506532430648804},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.24973821640014648},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.11533129215240479},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012426","descriptor_name":"Russia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055533","descriptor_name":"Survival of Motor Neuron 1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.3390/genes15070956","doi":"https://doi.org/10.3390/genes15070956","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/genes15070956","pdf_url":"https://www.mdpi.com/2073-4425/15/7/956/pdf?version=1721539570","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11275604","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11275604","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11275604/pdf/genes-15-00956.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes (Basel)","raw_type":"Text"},{"id":"pmid:39062735","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39062735","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3390/genes15070956","doi":"https://doi.org/10.3390/genes15070956","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/genes15070956","pdf_url":"https://www.mdpi.com/2073-4425/15/7/956/pdf?version=1721539570","source":{"id":"https://openalex.org/S194631498","display_name":"Genes","issn_l":"2073-4425","issn":["2073-4425"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4400940889.pdf","grobid_xml":"https://content.openalex.org/works/W4400940889.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1593719663","https://openalex.org/W1980477780","https://openalex.org/W2005769863","https://openalex.org/W2039379131","https://openalex.org/W2134653466","https://openalex.org/W2375039565","https://openalex.org/W2764194659","https://openalex.org/W2805396666","https://openalex.org/W3157688622","https://openalex.org/W3185307150","https://openalex.org/W4391830314"],"related_works":["https://openalex.org/W4413417514","https://openalex.org/W4407183882","https://openalex.org/W7128724830","https://openalex.org/W7150714709","https://openalex.org/W4392747133","https://openalex.org/W4377043437","https://openalex.org/W4407234528","https://openalex.org/W4391219039","https://openalex.org/W4383094715","https://openalex.org/W4386930493"],"abstract_inverted_index":{"During":[0],"the":[1,20,34,41,44,54,71,76,91,100,104,117,132,141,145,188,193,196,207],"expanded":[2],"neonatal":[3],"screening":[4,46,60],"program":[5],"conducted":[6],"in":[7,19,23,90,99,120,148,176,180,232],"2023,":[8],"we":[9],"analyzed":[10],"samples":[11,49],"obtained":[12,57,189],"from":[13],"1,227,130":[14],"out":[15,169],"of":[16,43,78,95,106,128,131,140,215],"1,256,187":[17],"newborns":[18,115,234],"Russian":[21],"Federation":[22],"order":[24],"to":[25,103,192],"detect":[26],"5q":[27,227],"spinal":[28],"muscular":[29],"atrophy":[30],"(5q":[31],"SMA).":[32],"Within":[33],"253-sample":[35],"risk":[36],"group":[37],"formed":[38],"based":[39],"on":[40,187],"results":[42,56,72],"first":[45],"stage,":[47],"5":[48],"showed":[50],"a":[51,80,85,121,126,149,161,213,238],"discrepancy":[52,69],"between":[53,70],"examination":[55,166],"via":[58],"various":[59],"methods":[61],"and":[62,111,152,158,183,206],"quantitative":[63],"MLPA":[64],"(used":[65],"as":[66,203,212],"reference).":[67],"The":[68],"was":[73,167],"caused":[74],"by":[75],"presence":[77],"either":[79],"c.835-18C>T":[81,118,197],"intronic":[82,198],"variant":[83,89,119,147,199,214],"or":[84,236],"c.842G>C":[86,159,208],"p.(Arg281Thr)":[87,209],"missense":[88,210],"SMN1":[92,133,142],"gene,":[93,134],"both":[94,156],"which":[96],"are":[97,222],"located":[98],"region":[101],"complementary":[102],"sequences":[105],"annealing":[107],"probes":[108],"for":[109,170],"ligation":[110],"real-time":[112],"PCR.":[113],"Three":[114],"had":[116,144,155],"compound":[122,162],"heterozygous":[123,150,163],"state":[124],"with":[125,137],"deletion":[127],"exons":[129],"7\u20138":[130],"one":[135,153],"newborn":[136,154],"two":[138],"copies":[139],"gene":[143],"same":[146],"state,":[151],"variants\u2014c.835-18C>T":[157],"p.(Arg281Thr)\u2014in":[160],"state.":[164],"Additional":[165],"carried":[168],"these":[171,233],"variants,":[172],"involving":[173],"segregation":[174],"analysis":[175,179],"families,":[177],"carriage":[178],"population":[181],"cohorts,":[182],"RNA":[184],"analysis.":[185],"Based":[186],"results,":[190],"according":[191],"ACMG":[194],"criteria,":[195],"should":[200],"be":[201],"classified":[202],"likely":[204],"benign,":[205],"substitution":[211],"uncertain":[216],"clinical":[217],"significance.":[218],"All":[219],"five":[220],"probands":[221],"under":[223],"dynamic":[224],"monitoring.":[225],"No":[226],"SMA":[228],"symptoms":[229],"were":[230],"detected":[231],"neonatally":[235],"during":[237],"1-year":[239],"follow-up":[240],"period.":[241]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-07-25T00:00:00"}
