{"id":"https://openalex.org/W2462471718","doi":"https://doi.org/10.1007/8904_2016_541","title":"Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder","display_name":"Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder","publication_year":2016,"publication_date":"2016-01-01","ids":{"openalex":"https://openalex.org/W2462471718","doi":"https://doi.org/10.1007/8904_2016_541","mag":"2462471718","pmid":"https://pubmed.ncbi.nlm.nih.gov/27344648","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5362551"},"language":"en","primary_location":{"id":"doi:10.1007/8904_2016_541","doi":"https://doi.org/10.1007/8904_2016_541","is_oa":false,"landing_page_url":"https://doi.org/10.1007/8904_2016_541","pdf_url":null,"source":{"id":"https://openalex.org/S4210211695","display_name":"JIMD Reports","issn_l":"2192-8304","issn":["2192-8304","2192-8312"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","norway-1","oarl"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JIMD Reports","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W2592300999","display_name":"JIMD Reports, Volume 32"},"type":"book-chapter","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5362551","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064440505","display_name":"Michael Nafisinia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Michael Nafisinia","raw_affiliation_strings":["Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia","institution_ids":["https://openalex.org/I2802384191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014691736","display_name":"Yiran Guo","orcid":"https://orcid.org/0000-0002-6549-8589","observed_orcids":["https://orcid.org/0000-0002-6549-8589"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yiran Guo","raw_affiliation_strings":["Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013384876","display_name":"Xiao Dang","orcid":"https://orcid.org/0000-0001-6609-2807","observed_orcids":["https://orcid.org/0000-0001-6609-2807"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]},{"id":"https://openalex.org/I4387153646","display_name":"BGI Research","ror":"https://ror.org/05gsxrt27","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao Dang","raw_affiliation_strings":["BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, 518083, China","Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034822903","display_name":"Jiankang Li","orcid":"https://orcid.org/0000-0002-5061-4460","observed_orcids":["https://orcid.org/0000-0002-5061-4460"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]},{"id":"https://openalex.org/I4387153646","display_name":"BGI Research","ror":"https://ror.org/05gsxrt27","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiankang Li","raw_affiliation_strings":["Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100599591","display_name":"Yulan Chen","orcid":"https://orcid.org/0009-0006-5006-6675","observed_orcids":["https://orcid.org/0009-0006-5006-6675"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]},{"id":"https://openalex.org/I4387153646","display_name":"BGI Research","ror":"https://ror.org/05gsxrt27","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yulan Chen","raw_affiliation_strings":["Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100461798","display_name":"Jianguo Zhang","orcid":"https://orcid.org/0000-0003-0723-1701","observed_orcids":["https://orcid.org/0000-0003-0723-1701"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]},{"id":"https://openalex.org/I4387153646","display_name":"BGI Research","ror":"https://ror.org/05gsxrt27","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianguo Zhang","raw_affiliation_strings":["Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070185101","display_name":"Nicole J. Lake","orcid":"https://orcid.org/0000-0003-4103-6387","observed_orcids":["https://orcid.org/0000-0003-4103-6387"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Nicole J. Lake","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia","Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003074211","display_name":"Wendy Anne Gold","orcid":"https://orcid.org/0000-0003-1808-0646","observed_orcids":["https://orcid.org/0000-0003-1808-0646"]},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Wendy A. Gold","raw_affiliation_strings":["Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia","institution_ids":["https://openalex.org/I2802384191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031715772","display_name":"Lisa G. Riley","orcid":"https://orcid.org/0000-0002-1142-316X","observed_orcids":["https://orcid.org/0000-0002-1142-316X"]},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Lisa G. Riley","raw_affiliation_strings":["Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia","institution_ids":["https://openalex.org/I2802384191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047836141","display_name":"David R. Thorburn","orcid":"https://orcid.org/0000-0002-7725-9470","observed_orcids":["https://orcid.org/0000-0002-7725-9470"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"David R. Thorburn","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia","Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058430815","display_name":"Brendan J. Keating","orcid":"https://orcid.org/0000-0002-3320-3723","observed_orcids":["https://orcid.org/0000-0002-3320-3723"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brendan Keating","raw_affiliation_strings":["Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100451926","display_name":"Xun Xu","orcid":"https://orcid.org/0000-0002-5338-5173","observed_orcids":["https://orcid.org/0000-0002-5338-5173","https://orcid.org/0000-0003-3256-2940","https://orcid.org/0000-0002-3276-7295"]},"institutions":[{"id":"https://openalex.org/I100135526","display_name":"BGI Group (China)","ror":"https://ror.org/045pn2j94","country_code":"CN","type":"company","lineage":["https://openalex.org/I100135526"]},{"id":"https://openalex.org/I4387153646","display_name":"BGI Research","ror":"https://ror.org/05gsxrt27","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xun Xu","raw_affiliation_strings":["Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Shenzen Key Laboratory of Neurogenomics, BGI-Shenzen, Shenzhen, 518083, China","institution_ids":["https://openalex.org/I100135526","https://openalex.org/I4387153646"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088244425","display_name":"Hakon H. Hakonarson","orcid":"https://orcid.org/0000-0003-2814-7461","observed_orcids":["https://orcid.org/0000-0003-2814-7461"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hakon Hakonarson","raw_affiliation_strings":["Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045791231","display_name":"John Christodoulou","orcid":"https://orcid.org/0000-0002-8431-0641","observed_orcids":["https://orcid.org/0000-0002-8431-0641"]},"institutions":[{"id":"https://openalex.org/I129604602","display_name":"The University of Sydney","ror":"https://ror.org/0384j8v12","country_code":"AU","type":"education","lineage":["https://openalex.org/I129604602"]},{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"John Christodoulou","raw_affiliation_strings":["Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. john.christodoulou@health.nsw.gov.au","Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. john.christodoulou@health.nsw.gov.au","Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia. john.christodoulou@health.nsw.gov.au","Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. john.christodoulou@health.nsw.gov.au","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. john.christodoulou@health.nsw.gov.au","institution_ids":["https://openalex.org/I129604602"]},{"raw_affiliation_string":"Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia. john.christodoulou@health.nsw.gov.au","institution_ids":["https://openalex.org/I2802384191"]},{"raw_affiliation_string":"Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia","institution_ids":["https://openalex.org/I129604602"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5045791231"],"corresponding_institution_ids":["https://openalex.org/I129604602","https://openalex.org/I2802384191"],"apc_list":{"value":2200,"currency":"USD","value_usd":2200},"apc_paid":null,"fwci":2.3792,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.87962428,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"32","issue":null,"first_page":"117","last_page":"124"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.5663999915122986,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.5663999915122986,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.413100004196167,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.009100000374019146,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ndufv1","display_name":"NDUFV1","score":0.9179999828338623},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9380000233650208},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.6520000100135803},{"id":"https://openalex.org/keywords/complex-i-deficiency","display_name":"complex I deficiency","score":0.8539999723434448},{"id":"https://openalex.org/keywords/mitochondrial-respiratory-chain","display_name":"mitochondrial respiratory chain","score":0.871999979019165},{"id":"https://openalex.org/keywords/mitochondrial-disease-diagnosis","display_name":"mitochondrial disease diagnosis","score":0.5059999823570251},{"id":"https://openalex.org/keywords/brain-magnetic-resonance-spectroscopy","display_name":"brain magnetic resonance spectroscopy","score":0.7009999752044678},{"id":"https://openalex.org/keywords/lactate-peak","display_name":"lactate peak","score":0.6899999976158142},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.5450000166893005},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.5249999761581421}],"concepts":[{"id":"https://openalex.org/C2778461778","wikidata":"https://www.wikidata.org/wiki/Q1815019","display_name":"Leigh disease","level":4,"score":0.7139968872070312},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.681370735168457},{"id":"https://openalex.org/C2779799828","wikidata":"https://www.wikidata.org/wiki/Q6881866","display_name":"Mitochondrial encephalomyopathy","level":4,"score":0.6286972761154175},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.559460461139679},{"id":"https://openalex.org/C3020377403","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Respiratory chain","level":3,"score":0.542536199092865},{"id":"https://openalex.org/C3020761558","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Mitochondrial respiratory chain","level":3,"score":0.5087910294532776},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.467096745967865},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.464302122592926},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33933186531066895},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.3319474160671234},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.30700671672821045},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.29203248023986816},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2888009548187256},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25450193881988525}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1007/8904_2016_541","doi":"https://doi.org/10.1007/8904_2016_541","is_oa":false,"landing_page_url":"https://doi.org/10.1007/8904_2016_541","pdf_url":null,"source":{"id":"https://openalex.org/S4210211695","display_name":"JIMD Reports","issn_l":"2192-8304","issn":["2192-8304","2192-8312"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","norway-1","oarl"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JIMD Reports","raw_type":"book-chapter"},{"id":"pmh:oai:pubmedcentral.nih.gov:5362551","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5362551","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JIMD Rep","raw_type":"Text"},{"id":"pmid:27344648","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27344648","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":"JIMD reports","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:5362551","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5362551","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JIMD Rep","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1663021542","display_name":"The Intellectual and Developmental Disabilities Research Center at CHOP/Penn","funder_award_id":"U54HD086984","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W182337363","https://openalex.org/W1068492584","https://openalex.org/W1530131126","https://openalex.org/W1556836946","https://openalex.org/W1994734877","https://openalex.org/W2016680661","https://openalex.org/W2017398859","https://openalex.org/W2030055205","https://openalex.org/W2030760120","https://openalex.org/W2060836360","https://openalex.org/W2063987356","https://openalex.org/W2094213440","https://openalex.org/W2095626761","https://openalex.org/W2101216385","https://openalex.org/W2101465285","https://openalex.org/W2102707691","https://openalex.org/W2113484361","https://openalex.org/W2114978793","https://openalex.org/W2115989246","https://openalex.org/W2165270694","https://openalex.org/W2167627444","https://openalex.org/W2184109166"],"related_works":["https://openalex.org/W3101887186","https://openalex.org/W2120960164","https://openalex.org/W4405259679","https://openalex.org/W2889492963","https://openalex.org/W2047746381","https://openalex.org/W2099028592","https://openalex.org/W2262306542","https://openalex.org/W2955716683","https://openalex.org/W3096737088","https://openalex.org/W2107612815"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-07-22T00:00:00"}
