{"id":"https://openalex.org/W2922447477","doi":"https://doi.org/10.1038/s41431-019-0376-7","title":"De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes","display_name":"De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes","publication_year":2019,"publication_date":"2019-03-18","ids":{"openalex":"https://openalex.org/W2922447477","doi":"https://doi.org/10.1038/s41431-019-0376-7","mag":"2922447477","pmid":"https://pubmed.ncbi.nlm.nih.gov/30886340","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6777616"},"language":"en","primary_location":{"id":"doi:10.1038/s41431-019-0376-7","doi":"https://doi.org/10.1038/s41431-019-0376-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-019-0376-7","pdf_url":"https://www.nature.com/articles/s41431-019-0376-7.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/s41431-019-0376-7.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073558951","display_name":"Nirmal Vadgama","orcid":"https://orcid.org/0000-0001-6226-3867","observed_orcids":["https://orcid.org/0000-0001-6226-3867"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nirmal Vadgama","raw_affiliation_strings":["Institute of Neurology, University College London, London, WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Neurology, University College London, London, WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021931896","display_name":"Alan Michael Pittman","orcid":"https://orcid.org/0000-0002-8112-2987","observed_orcids":["https://orcid.org/0000-0002-8112-2987"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Alan Pittman","raw_affiliation_strings":["Institute of Neurology, University College London, London, WC1N 3BG, UK"],"raw_orcid":"https://orcid.org/0000-0002-8112-2987","affiliations":[{"raw_affiliation_string":"Institute of Neurology, University College London, London, WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035107707","display_name":"Michael A. Simpson","orcid":"https://orcid.org/0000-0002-8539-8753","observed_orcids":["https://orcid.org/0000-0002-8539-8753"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Simpson","raw_affiliation_strings":["Division of Genetics and Molecular Medicine, King's College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics and Molecular Medicine, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061834519","display_name":"Niranjanan Nirmalananthan","orcid":"https://orcid.org/0000-0003-3052-422X","observed_orcids":["https://orcid.org/0000-0003-3052-422X"]},"institutions":[{"id":"https://openalex.org/I2801196673","display_name":"St George\u2019s University Hospitals NHS Foundation Trust","ror":"https://ror.org/039zedc16","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801196673"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Niranjanan Nirmalananthan","raw_affiliation_strings":["St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK","institution_ids":["https://openalex.org/I2801196673"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029413844","display_name":"Robin M. Murray","orcid":"https://orcid.org/0000-0003-0829-0519","observed_orcids":["https://orcid.org/0000-0003-0829-0519"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Robin Murray","raw_affiliation_strings":["Institute of Psychiatry, Psychology, and Neuroscience, King's College, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Psychiatry, Psychology, and Neuroscience, King's College, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067676082","display_name":"Takeo Yoshikawa","orcid":"https://orcid.org/0000-0003-2791-6679","observed_orcids":["https://orcid.org/0000-0003-2791-6679"]},"institutions":[{"id":"https://openalex.org/I2800939219","display_name":"RIKEN Center for Brain Science","ror":"https://ror.org/04j1n1c04","country_code":"JP","type":"facility","lineage":["https://openalex.org/I2800939219","https://openalex.org/I4210110652"]},{"id":"https://openalex.org/I4210110652","display_name":"RIKEN","ror":"https://ror.org/01sjwvz98","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210110652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeo Yoshikawa","raw_affiliation_strings":["RIKEN Brain Science Institute, Wako, Saitama, 351-0198, Japan"],"raw_orcid":"https://orcid.org/0000-0003-2791-6679","affiliations":[{"raw_affiliation_string":"RIKEN Brain Science Institute, Wako, Saitama, 351-0198, Japan","institution_ids":["https://openalex.org/I2800939219","https://openalex.org/I4210110652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042147303","display_name":"Peter De Rijk","orcid":"https://orcid.org/0000-0001-8558-9288","observed_orcids":["https://orcid.org/0000-0001-8558-9288"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Peter De Rijk","raw_affiliation_strings":["Applied Molecular Genomics Group, University of Antwerp, Antwerp, Belgium"],"raw_orcid":"https://orcid.org/0000-0001-8558-9288","affiliations":[{"raw_affiliation_string":"Applied Molecular Genomics Group, University of Antwerp, Antwerp, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036033229","display_name":"Elliott Rees","orcid":"https://orcid.org/0000-0002-6168-9222","observed_orcids":["https://orcid.org/0000-0002-6168-9222"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Elliott Rees","raw_affiliation_strings":["Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048946250","display_name":"George Kirov","orcid":"https://orcid.org/0000-0002-3427-3950","observed_orcids":["https://orcid.org/0000-0002-3427-3950"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"George Kirov","raw_affiliation_strings":["Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062124070","display_name":"Deborah Hughes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Deborah Hughes","raw_affiliation_strings":["Institute of Neurology, University College London, London, WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Neurology, University College London, London, WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006738515","display_name":"Tomas W. Fitzgerald","orcid":"https://orcid.org/0000-0002-2370-8496","observed_orcids":["https://orcid.org/0000-0002-2370-8496"]},"institutions":[{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Tomas Fitzgerald","raw_affiliation_strings":["The European Bioinformatics Institute (EMBL-EBI), Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The European Bioinformatics Institute (EMBL-EBI), Cambridge, UK","institution_ids":["https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110773491","display_name":"Mark Kristiansen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark Kristiansen","raw_affiliation_strings":["UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114045795","display_name":"Kerra Pearce","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kerra Pearce","raw_affiliation_strings":["UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056556792","display_name":"Eliza Cerveira","orcid":"https://orcid.org/0000-0001-8915-3334","observed_orcids":["https://orcid.org/0000-0001-8915-3334"]},"institutions":[{"id":"https://openalex.org/I4405260184","display_name":"The Jackson Laboratory for Genomic Medicine","ror":"https://ror.org/03cew3973","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256","https://openalex.org/I4405260184"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eliza Cerveira","raw_affiliation_strings":["Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA","institution_ids":["https://openalex.org/I4405260184"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000377378","display_name":"Qihui Zhu","orcid":"https://orcid.org/0000-0003-2401-8443","observed_orcids":["https://orcid.org/0000-0003-2401-8443"]},"institutions":[{"id":"https://openalex.org/I4405260184","display_name":"The Jackson Laboratory for Genomic Medicine","ror":"https://ror.org/03cew3973","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256","https://openalex.org/I4405260184"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qihui Zhu","raw_affiliation_strings":["Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA","institution_ids":["https://openalex.org/I4405260184"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101954659","display_name":"Chengsheng Zhang","orcid":"https://orcid.org/0000-0002-5238-083X","observed_orcids":["https://orcid.org/0000-0002-5238-083X","https://orcid.org/0000-0003-2636-7858"]},"institutions":[{"id":"https://openalex.org/I4405260184","display_name":"The Jackson Laboratory for Genomic Medicine","ror":"https://ror.org/03cew3973","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256","https://openalex.org/I4405260184"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chengsheng Zhang","raw_affiliation_strings":["Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA","institution_ids":["https://openalex.org/I4405260184"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100716198","display_name":"Charles Lee","orcid":"https://orcid.org/0000-0001-7317-6662","observed_orcids":["https://orcid.org/0000-0001-7317-6662"]},"institutions":[{"id":"https://openalex.org/I4405260184","display_name":"The Jackson Laboratory for Genomic Medicine","ror":"https://ror.org/03cew3973","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256","https://openalex.org/I4405260184"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles Lee","raw_affiliation_strings":["Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA","institution_ids":["https://openalex.org/I4405260184"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Institute of Neurology, University College London, London, WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Neurology, University College London, London, WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000409448","display_name":"Jamal Nasir","orcid":"https://orcid.org/0000-0001-6378-5616","observed_orcids":["https://orcid.org/0000-0001-6378-5616"]},"institutions":[{"id":"https://openalex.org/I165862685","display_name":"St George's, University of London","ror":"https://ror.org/040f08y74","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I165862685","https://openalex.org/I4401726869"]},{"id":"https://openalex.org/I35870678","display_name":"University of Northampton","ror":"https://ror.org/04jp2hx10","country_code":"GB","type":"education","lineage":["https://openalex.org/I35870678"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Jamal Nasir","raw_affiliation_strings":["Cell Biology and Genetics Research Centre, St. George's University of London, London, UK. jamal.nasir@northampton.ac.uk","Molecular Biosciences Research Group, University of Northampton, Northampton, NN1 5PH, UK. jamal.nasir@northampton.ac.uk","Cell Biology and Genetics Research Centre, St. George's University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Biology and Genetics Research Centre, St. George's University of London, London, UK. jamal.nasir@northampton.ac.uk","institution_ids":["https://openalex.org/I165862685"]},{"raw_affiliation_string":"Molecular Biosciences Research Group, University of Northampton, Northampton, NN1 5PH, UK. jamal.nasir@northampton.ac.uk","institution_ids":["https://openalex.org/I35870678"]},{"raw_affiliation_string":"Cell Biology and Genetics Research Centre, St. George's University of London, London, UK","institution_ids":["https://openalex.org/I165862685"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5000409448"],"corresponding_institution_ids":["https://openalex.org/I165862685","https://openalex.org/I35870678"],"apc_list":{"value":3760,"currency":"USD","value_usd":3760},"apc_paid":null,"fwci":4.3382,"has_fulltext":true,"cited_by_count":49,"citation_normalized_percentile":{"value":0.95346225,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":100},"biblio":{"volume":"27","issue":"7","first_page":"1121","last_page":"1133"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7685999870300293,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7685999870300293,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.16169999539852142,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.029400000348687172,"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/monozygotic-twin-discordance","display_name":"monozygotic twin discordance","score":0.9210000038146973},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7860000133514404},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9959999918937683},{"id":"https://openalex.org/keywords/phospholipase-c-beta-1","display_name":"PLCB1","score":0.7760000228881836},{"id":"https://openalex.org/keywords/mt-nd5","display_name":"MT-ND5","score":0.8939999938011169},{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9800000190734863},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7760000228881836},{"id":"https://openalex.org/keywords/schizotypal-personality-disorder","display_name":"schizotypal personality disorder","score":0.9150000214576721},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":0.9860000014305115},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9940000176429749},{"id":"https://openalex.org/keywords/cd38","display_name":"CD38","score":0.8019999861717224},{"id":"https://openalex.org/keywords/arylacetamide-deacetylase","display_name":"arylacetamide deacetylase","score":0.8939999938011169},{"id":"https://openalex.org/keywords/tourette-syndrome","display_name":"Tourette syndrome","score":0.9890000224113464},{"id":"https://openalex.org/keywords/lactase-non-persistence","display_name":"lactase non-persistence","score":0.6570000052452087},{"id":"https://openalex.org/keywords/variable-penetrance","display_name":"variable penetrance","score":0.39100000262260437}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7837580442428589},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7555423974990845},{"id":"https://openalex.org/C3017743773","wikidata":"https://www.wikidata.org/wiki/Q159979","display_name":"Monozygotic twin","level":2,"score":0.6714560389518738},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6665762662887573},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.47614216804504395},{"id":"https://openalex.org/C169594400","wikidata":"https://www.wikidata.org/wiki/Q244775","display_name":"Twin study","level":3,"score":0.4700654447078705},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.4488169252872467},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.41273242235183716},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3907110095024109},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3813491463661194},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.1422235071659088},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.09929195046424866}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005879","descriptor_name":"Tourette Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014430","descriptor_name":"Twins, Monozygotic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1038/s41431-019-0376-7","doi":"https://doi.org/10.1038/s41431-019-0376-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-019-0376-7","pdf_url":"https://www.nature.com/articles/s41431-019-0376-7.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6777616","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6777616","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":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:30886340","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30886340","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":"European journal of human genetics : EJHG","raw_type":"Clinical Trial"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:124461","doi":null,"is_oa":false,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/124461/1/Twin%2BPaper%2B-%2BEJHG%2B-%2B31.08.18.pdf","pdf_url":"https://orca.cardiff.ac.uk/id/eprint/124461/1/Twin%2BPaper%2B-%2BEJHG%2B-%2B31.08.18.pdf","source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:openaccess.sgul.ac.uk:111184","doi":null,"is_oa":false,"landing_page_url":"http://openaccess.sgul.ac.uk/111184/1/18021_2_merged_1550920277.pdf","pdf_url":"http://openaccess.sgul.ac.uk/111184/1/18021_2_merged_1550920277.pdf","source":{"id":"https://openalex.org/S4306400552","display_name":"St George's Online Research Archive (St George's University of London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I165862685","host_organization_name":"St George's, University of London","host_organization_lineage":["https://openalex.org/I165862685"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:nectar.northampton.ac.uk:12897","doi":null,"is_oa":true,"landing_page_url":"https://nectar.northampton.ac.uk/id/eprint/12897/1/Vadgama_etal_Springer_2019_De_novo_single_nucleotide_and_copy_number_variation_in_discordant_monozygotic_twins_reveals_disease_related_genes.pdf","pdf_url":"https://nectar.northampton.ac.uk/id/eprint/12897/1/Vadgama_etal_Springer_2019_De_novo_single_nucleotide_and_copy_number_variation_in_discordant_monozygotic_twins_reveals_disease_related_genes.pdf","source":{"id":"https://openalex.org/S4377196393","display_name":"NECTAR - Northampton Electronic Collection of Thesis and Research (University of Northampton)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I35870678","host_organization_name":"University of Northampton","host_organization_lineage":["https://openalex.org/I35870678"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10078357","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10078357/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Human Genetics , 27 (7) pp. 1121-1133. (2019)","raw_type":"Article"},{"id":"pmh:oai:kclpure.kcl.ac.uk:publications/68efe4a0-e8f6-4010-b2f3-8be79d3f2cd0","doi":null,"is_oa":false,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/68efe4a0-e8f6-4010-b2f3-8be79d3f2cd0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Vadgama, N, Pittman, A, Simpson, M, Nirmalananthan, N, Murray, R, Yoshikawa, T, De Rijk, P, Rees, E, Kirov, G, Hughes, D, Fitzgerald, T, Kristiansen, M, Pearce, K, Cerveira, E, Zhu, Q, Zhang, C, Lee, C, Hardy, J & Nasir, J 2019, 'De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes', European Journal of Human Genetics, vol. 27, no. 7, pp. 1121-1133. https://doi.org/10.1038/s41431-019-0376-7","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:mouseion.jax.org:stfb2019-1159","doi":null,"is_oa":false,"landing_page_url":"https://mouseion.jax.org/stfb2019/160","pdf_url":null,"source":{"id":"https://openalex.org/S4377196421","display_name":"The Mouseion at the JAXlibrary (Jackson Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210115256","host_organization_name":"Jackson Laboratory","host_organization_lineage":["https://openalex.org/I4210115256"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty Research 2019","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1038/s41431-019-0376-7","doi":"https://doi.org/10.1038/s41431-019-0376-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-019-0376-7","pdf_url":"https://www.nature.com/articles/s41431-019-0376-7.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","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":[{"id":"https://openalex.org/G241875673","display_name":"Using genetic variability in whole transcriptome expression in cells and tissues to understand the pathogenesis of Parkinson's and Alzheimer's disease","funder_award_id":"MR/K01417X/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3327757157","display_name":null,"funder_award_id":"G-0907","funder_id":"https://openalex.org/F4320320021","funder_display_name":"Parkinson's UK"},{"id":"https://openalex.org/G5805295236","display_name":"MRC Centre for Neuropsychiatric Genetics and Genomics","funder_award_id":"MR/L010305/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G589339204","display_name":"Understanding the genes for Parkinson's disease","funder_award_id":"MR/N026004/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G5898053883","display_name":"Risk and Modifying factors in Fronto Temporal Dementia","funder_award_id":"MR/L501542/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320319993","display_name":"Leverhulme Trust","ror":"https://ror.org/012mzw131"},{"id":"https://openalex.org/F4320320021","display_name":"Parkinson's UK","ror":"https://ror.org/02417p338"},{"id":"https://openalex.org/F4320320319","display_name":"Dowager Countess Eleanor Peel Trust","ror":"https://ror.org/05ag50972"},{"id":"https://openalex.org/F4320320320","display_name":"Rosetrees Trust","ror":"https://ror.org/04e3zg361"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2922447477.pdf","grobid_xml":"https://content.openalex.org/works/W2922447477.grobid-xml"},"referenced_works_count":55,"referenced_works":["https://openalex.org/W1252461937","https://openalex.org/W1588316525","https://openalex.org/W1789457561","https://openalex.org/W1836291421","https://openalex.org/W1942248206","https://openalex.org/W1964426200","https://openalex.org/W1969517987","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1985911270","https://openalex.org/W1996650107","https://openalex.org/W1999277812","https://openalex.org/W2020331089","https://openalex.org/W2020784233","https://openalex.org/W2022825972","https://openalex.org/W2027865411","https://openalex.org/W2028154001","https://openalex.org/W2032466273","https://openalex.org/W2036521244","https://openalex.org/W2038473742","https://openalex.org/W2041472888","https://openalex.org/W2051214746","https://openalex.org/W2055553707","https://openalex.org/W2059145105","https://openalex.org/W2059534817","https://openalex.org/W2062523885","https://openalex.org/W2066269971","https://openalex.org/W2068995113","https://openalex.org/W2076357933","https://openalex.org/W2079605910","https://openalex.org/W2086650838","https://openalex.org/W2093085526","https://openalex.org/W2093299566","https://openalex.org/W2096268925","https://openalex.org/W2105550070","https://openalex.org/W2110101611","https://openalex.org/W2116149846","https://openalex.org/W2119180969","https://openalex.org/W2123285567","https://openalex.org/W2133334128","https://openalex.org/W2133518122","https://openalex.org/W2147941657","https://openalex.org/W2149681218","https://openalex.org/W2151094911","https://openalex.org/W2153438724","https://openalex.org/W2161757240","https://openalex.org/W2338844801","https://openalex.org/W2345650612","https://openalex.org/W2411020409","https://openalex.org/W2414029203","https://openalex.org/W2507829835","https://openalex.org/W2553830626","https://openalex.org/W2621676831","https://openalex.org/W2751739125","https://openalex.org/W2771176163"],"related_works":["https://openalex.org/W2945991586","https://openalex.org/W2261352898","https://openalex.org/W4399709152","https://openalex.org/W2950165587","https://openalex.org/W1789457561","https://openalex.org/W4401109147","https://openalex.org/W2738673092","https://openalex.org/W2090670544","https://openalex.org/W2057026727","https://openalex.org/W2037806588"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":24},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-03-22T00:00:00"}