{"id":"https://openalex.org/W2002252858","doi":"https://doi.org/10.1086/498048","title":"Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination","display_name":"Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination","publication_year":2005,"publication_date":"2005-11-07","ids":{"openalex":"https://openalex.org/W2002252858","doi":"https://doi.org/10.1086/498048","mag":"2002252858","pmid":"https://pubmed.ncbi.nlm.nih.gov/16380909","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1285180"},"language":"en","primary_location":{"id":"doi:10.1086/498048","doi":"https://doi.org/10.1086/498048","is_oa":true,"landing_page_url":"https://doi.org/10.1086/498048","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1086/498048","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108511837","display_name":"Karen J. Woodward","orcid":"https://orcid.org/0000-0002-2041-0600","observed_orcids":["https://orcid.org/0000-0002-2041-0600"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen J. Woodward","raw_affiliation_strings":["Clinical and Molecular Genetics, Institute of Child Health, London","Western Diagnostic Pathology, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical and Molecular Genetics, Institute of Child Health, London","institution_ids":[]},{"raw_affiliation_string":"Western Diagnostic Pathology, Perth, Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016552498","display_name":"Maria Cundall","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maria Cundall","raw_affiliation_strings":["Clinical and Molecular Genetics, Institute of Child Health, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical and Molecular Genetics, Institute of Child Health, London","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044147880","display_name":"Karen Sperle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karen Sperle","raw_affiliation_strings":["Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067937847","display_name":"Erik A. Sistermans","orcid":"https://orcid.org/0000-0001-7187-4563","observed_orcids":["https://orcid.org/0000-0001-7187-4563"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erik A. Sistermans","raw_affiliation_strings":["Department of Human Genetics, Radboud University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104275873","display_name":"Mark T. Ross","orcid":"https://orcid.org/0000-0001-7851-1167","observed_orcids":["https://orcid.org/0000-0001-7851-1167"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark Ross","raw_affiliation_strings":["The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018525513","display_name":"Gareth R. Howell","orcid":"https://orcid.org/0000-0003-0565-6474","observed_orcids":["https://orcid.org/0000-0003-0565-6474"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gareth Howell","raw_affiliation_strings":["The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040117240","display_name":"Susan M. Gribble","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Susan M. Gribble","raw_affiliation_strings":["The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029694313","display_name":"Deborah C. Burford","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Deborah C. Burford","raw_affiliation_strings":["The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071458123","display_name":"Nigel P. Carter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nigel P. Carter","raw_affiliation_strings":["The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018940515","display_name":"Donald L. Hobson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Donald L. Hobson","raw_affiliation_strings":["Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051796970","display_name":"James Y. Garbern","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185443292","display_name":"Wayne State University","ror":"https://ror.org/01070mq45","country_code":"US","type":"education","lineage":["https://openalex.org/I185443292"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James Y. Garbern","raw_affiliation_strings":["Center for Molecular Medicine and Genetics, Wayne State University, Detroit","Department of Neurology, Wayne State University, Detroit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Genetics, Wayne State University, Detroit","institution_ids":["https://openalex.org/I185443292"]},{"raw_affiliation_string":"Department of Neurology, Wayne State University, Detroit","institution_ids":["https://openalex.org/I185443292"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079253030","display_name":"John A. Kamholz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185443292","display_name":"Wayne State University","ror":"https://ror.org/01070mq45","country_code":"US","type":"education","lineage":["https://openalex.org/I185443292"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Kamholz","raw_affiliation_strings":["Center for Molecular Medicine and Genetics, Wayne State University, Detroit","Department of Neurology, Wayne State University, Detroit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Genetics, Wayne State University, Detroit","institution_ids":["https://openalex.org/I185443292"]},{"raw_affiliation_string":"Department of Neurology, Wayne State University, Detroit","institution_ids":["https://openalex.org/I185443292"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052823444","display_name":"Henry H. Heng","orcid":"https://orcid.org/0000-0003-1475-9547","observed_orcids":["https://orcid.org/0000-0003-1475-9547"]},"institutions":[{"id":"https://openalex.org/I185443292","display_name":"Wayne State University","ror":"https://ror.org/01070mq45","country_code":"US","type":"education","lineage":["https://openalex.org/I185443292"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Henry Heng","raw_affiliation_strings":["Center for Molecular Medicine and Genetics, Wayne State University, Detroit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Genetics, Wayne State University, Detroit","institution_ids":["https://openalex.org/I185443292"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109125975","display_name":"Marion E. Hodes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M.E. Hodes","raw_affiliation_strings":["Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104022319","display_name":"Sue Malcolm","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sue Malcolm","raw_affiliation_strings":["Clinical and Molecular Genetics, Institute of Child Health, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical and Molecular Genetics, Institute of Child Health, London","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091066839","display_name":"Grace M. Hobson","orcid":"https://orcid.org/0000-0002-5275-5953","observed_orcids":["https://orcid.org/0000-0002-5275-5953"]},"institutions":[{"id":"https://openalex.org/I1326254912","display_name":"Alfred I. duPont Hospital for Children","ror":"https://ror.org/00jyx0v10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1326254912","https://openalex.org/I4210108049"]},{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Grace M. Hobson","raw_affiliation_strings":["Department of Pediatrics, Thomas Jefferson University, Philadelphia","Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Thomas Jefferson University, Philadelphia","institution_ids":["https://openalex.org/I149251103"]},{"raw_affiliation_string":"Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, DE","institution_ids":["https://openalex.org/I1326254912"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5091066839"],"corresponding_institution_ids":["https://openalex.org/I1326254912","https://openalex.org/I149251103"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":6.293,"has_fulltext":false,"cited_by_count":103,"citation_normalized_percentile":{"value":0.9734031,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"77","issue":"6","first_page":"966","last_page":"987"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9125999808311462,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9125999808311462,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.04619999974966049,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.016200000420212746,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pelizaeus-merzbacher-disease","display_name":"Pelizaeus-Merzbacher disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/plp1","display_name":"PLP1","score":0.847000002861023},{"id":"https://openalex.org/keywords/tandem-duplication","display_name":"tandem duplication","score":0.7229999899864197},{"id":"https://openalex.org/keywords/homologous-recombination","display_name":"homologous recombination","score":0.800000011920929},{"id":"https://openalex.org/keywords/non-homologous-end-joining","display_name":"non-homologous end joining","score":0.9570000171661377},{"id":"https://openalex.org/keywords/segmental-duplication","display_name":"segmental duplication","score":0.7580000162124634},{"id":"https://openalex.org/keywords/microhomology","display_name":"microhomology","score":0.8769999742507935},{"id":"https://openalex.org/keywords/double-strand-break-repair","display_name":"DNA double-strand break repair","score":0.8299999833106995},{"id":"https://openalex.org/keywords/interspersed-repetitive-elements","display_name":"interspersed repetitive elements","score":0.9049999713897705},{"id":"https://openalex.org/keywords/alu-elements","display_name":"Alu elements","score":0.9760000109672546},{"id":"https://openalex.org/keywords/long-interspersed-nuclear-elements","display_name":"long interspersed nuclear elements","score":0.8690000176429749},{"id":"https://openalex.org/keywords/long-terminal-repeat","display_name":"long terminal repeat","score":0.9850000143051147},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.5559999942779541}],"concepts":[{"id":"https://openalex.org/C82040048","wikidata":"https://www.wikidata.org/wiki/Q7049125","display_name":"Non-allelic homologous recombination","level":5,"score":0.8388818502426147},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.7977432012557983},{"id":"https://openalex.org/C102744134","wikidata":"https://www.wikidata.org/wiki/Q22280388","display_name":"Homologous recombination","level":3,"score":0.7355622053146362},{"id":"https://openalex.org/C122917832","wikidata":"https://www.wikidata.org/wiki/Q2065945","display_name":"Non-homologous end joining","level":4,"score":0.7068492770195007},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7033452987670898},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.702404260635376},{"id":"https://openalex.org/C57808653","wikidata":"https://www.wikidata.org/wiki/Q7446270","display_name":"Segmental duplication","level":5,"score":0.6669011116027832},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.6208941340446472},{"id":"https://openalex.org/C156446351","wikidata":"https://www.wikidata.org/wiki/Q7682435","display_name":"Tandem exon duplication","level":4,"score":0.5720024108886719},{"id":"https://openalex.org/C64894306","wikidata":"https://www.wikidata.org/wiki/Q849622","display_name":"Homologous chromosome","level":3,"score":0.47432205080986023},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4241119623184204},{"id":"https://openalex.org/C29511175","wikidata":"https://www.wikidata.org/wiki/Q5280381","display_name":"Direct repeat","level":4,"score":0.42339423298835754},{"id":"https://openalex.org/C27149982","wikidata":"https://www.wikidata.org/wiki/Q3456514","display_name":"Tandem repeat","level":4,"score":0.4222612679004669},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33253180980682373},{"id":"https://openalex.org/C156695909","wikidata":"https://www.wikidata.org/wiki/Q3373825","display_name":"Recombination","level":3,"score":0.321130633354187},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2659285068511963},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.26291096210479736},{"id":"https://openalex.org/C101434241","wikidata":"https://www.wikidata.org/wiki/Q211675","display_name":"Genetic recombination","level":4,"score":0.19940662384033203},{"id":"https://openalex.org/C5911399","wikidata":"https://www.wikidata.org/wiki/Q2278983","display_name":"Gene family","level":4,"score":0.07546880841255188}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004303","descriptor_name":"Dosage Compensation, Genetic","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011995","descriptor_name":"Recombination, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012689","descriptor_name":"Sequence Homology, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018991","descriptor_name":"Myelin Proteolipid Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019457","descriptor_name":"Chromosome Breakage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020080","descriptor_name":"Tandem Repeat Sequences","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020371","descriptor_name":"Pelizaeus-Merzbacher Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":8,"locations":[{"id":"doi:10.1086/498048","doi":"https://doi.org/10.1086/498048","is_oa":true,"landing_page_url":"https://doi.org/10.1086/498048","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1285180","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1285180","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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:16380909","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16380909","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire/acdd53a6-3f6e-43d0-968d-13c48377f167","doi":null,"is_oa":true,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/acdd53a6-3f6e-43d0-968d-13c48377f167","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Woodward, K J, Cundall, M, Sperle, K, Sistermans, E A, Ross, M, Howell, G, Gribble, S M, Burford, D C, Carter, N P, Hobson, D L, Garbern, J Y, Kamholz, J, Heng, H, Hodes, M E, Malcolm, S & Hobson, G M 2005, 'Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination', American journal of human genetics, vol. 77, no. 6, pp. 966-987. https://doi.org/10.1086/498048","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:39808","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/39808/","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":"The American Journal of Human Genetics , 77 (6) pp. 966-987. (2005)","raw_type":"Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/47770","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/47770","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 77, 6, pp. 966-87","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/47770","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/47770","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 77, 966 - 87","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:vumc:oai:pure.atira.dk:publications/0656425d-1cf2-4092-a833-47e3fd613caa","doi":null,"is_oa":true,"landing_page_url":"https://research.vumc.nl/en/publications/0656425d-1cf2-4092-a833-47e3fd613caa","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American journal of human genetics, 77(6), 966 - 987. Cell Press","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1086/498048","doi":"https://doi.org/10.1086/498048","is_oa":true,"landing_page_url":"https://doi.org/10.1086/498048","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1598762266","display_name":null,"funder_award_id":"NS043783","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2157204662","display_name":"Center for Pediatric Research","funder_award_id":"P20RR020173","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G6546411525","display_name":"Molecular Mechanisms of Neurodegeneration","funder_award_id":"R01NS043783","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":79,"referenced_works":["https://openalex.org/W1513938829","https://openalex.org/W1566720158","https://openalex.org/W1579399646","https://openalex.org/W1616028725","https://openalex.org/W1913088950","https://openalex.org/W1964918240","https://openalex.org/W1968469516","https://openalex.org/W1969845182","https://openalex.org/W1971906849","https://openalex.org/W1972262740","https://openalex.org/W1975532031","https://openalex.org/W1977625458","https://openalex.org/W1980765590","https://openalex.org/W1981018676","https://openalex.org/W1981779457","https://openalex.org/W1984915289","https://openalex.org/W1985120138","https://openalex.org/W1987235204","https://openalex.org/W1987445460","https://openalex.org/W1988582699","https://openalex.org/W1990769763","https://openalex.org/W1991937853","https://openalex.org/W1997012973","https://openalex.org/W1997647094","https://openalex.org/W2000471643","https://openalex.org/W2008601218","https://openalex.org/W2017218018","https://openalex.org/W2020789006","https://openalex.org/W2022009349","https://openalex.org/W2030868540","https://openalex.org/W2034245251","https://openalex.org/W2034526956","https://openalex.org/W2041668110","https://openalex.org/W2044908612","https://openalex.org/W2047440973","https://openalex.org/W2050441340","https://openalex.org/W2051572757","https://openalex.org/W2054164689","https://openalex.org/W2055043387","https://openalex.org/W2055937107","https://openalex.org/W2060453248","https://openalex.org/W2061634736","https://openalex.org/W2062743311","https://openalex.org/W2063640733","https://openalex.org/W2067552991","https://openalex.org/W2070193133","https://openalex.org/W2072603644","https://openalex.org/W2073892413","https://openalex.org/W2075168304","https://openalex.org/W2081705896","https://openalex.org/W2083853701","https://openalex.org/W2085151059","https://openalex.org/W2086579330","https://openalex.org/W2087036937","https://openalex.org/W2088769939","https://openalex.org/W2091660221","https://openalex.org/W2097154822","https://openalex.org/W2103256993","https://openalex.org/W2114322342","https://openalex.org/W2130680376","https://openalex.org/W2131581981","https://openalex.org/W2141157874","https://openalex.org/W2142701631","https://openalex.org/W2144899009","https://openalex.org/W2145968044","https://openalex.org/W2148979041","https://openalex.org/W2151318268","https://openalex.org/W2159825246","https://openalex.org/W2163771746","https://openalex.org/W2164463031","https://openalex.org/W2165554230","https://openalex.org/W2170612945","https://openalex.org/W2171584212","https://openalex.org/W2320868553","https://openalex.org/W2321516322","https://openalex.org/W2409952447","https://openalex.org/W4232374197","https://openalex.org/W4237833990","https://openalex.org/W6714924457"],"related_works":["https://openalex.org/W2112438558","https://openalex.org/W1981018676","https://openalex.org/W2043642517","https://openalex.org/W2055937107","https://openalex.org/W1980765590","https://openalex.org/W2067552991","https://openalex.org/W2047440973","https://openalex.org/W2148979041","https://openalex.org/W1999773319","https://openalex.org/W2057032609"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":8}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
