{"id":"https://openalex.org/W2005283101","doi":"https://doi.org/10.3109/19396368.2010.527427","title":"Structural variation of the human genome: mechanisms, assays, and role in male infertility","display_name":"Structural variation of the human genome: mechanisms, assays, and role in male infertility","publication_year":2011,"publication_date":"2011-01-01","ids":{"openalex":"https://openalex.org/W2005283101","doi":"https://doi.org/10.3109/19396368.2010.527427","mag":"2005283101","pmid":"https://pubmed.ncbi.nlm.nih.gov/21210740","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3179416"},"language":"en","primary_location":{"id":"doi:10.3109/19396368.2010.527427","doi":"https://doi.org/10.3109/19396368.2010.527427","is_oa":true,"landing_page_url":"https://doi.org/10.3109/19396368.2010.527427","pdf_url":"https://www.tandfonline.com/doi/pdf/10.3109/19396368.2010.527427?needAccess=true&role=button","source":{"id":"https://openalex.org/S171426405","display_name":"Systems Biology in Reproductive Medicine","issn_l":"1939-6368","issn":["1939-6368","1939-6376"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Systems Biology in Reproductive Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.tandfonline.com/doi/pdf/10.3109/19396368.2010.527427?needAccess=true&role=button","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083240572","display_name":"Claudia M.B. Carvalho","orcid":"https://orcid.org/0000-0002-2090-298X","observed_orcids":["https://orcid.org/0000-0002-2090-298X"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Claudia M.B. Carvalho","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3498, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3498, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100401333","display_name":"Feng Zhang","orcid":"https://orcid.org/0000-0003-4556-8276","observed_orcids":["https://orcid.org/0000-0003-4556-8276"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I24943067","display_name":"Fudan University","ror":"https://ror.org/013q1eq08","country_code":"CN","type":"education","lineage":["https://openalex.org/I24943067"]},{"id":"https://openalex.org/I4391768242","display_name":"State Key Laboratory of Genetic Engineering","ror":"https://ror.org/01n3rg866","country_code":"CN","type":"facility","lineage":["https://openalex.org/I24943067","https://openalex.org/I4391768242"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"Feng Zhang","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA and State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA and State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I24943067","https://openalex.org/I4391768242"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000612576","display_name":"James R. Lupski","orcid":"https://orcid.org/0000-0001-9907-9246","observed_orcids":["https://orcid.org/0000-0001-9907-9246"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210147586","display_name":"Texas Children's Hospital","ror":"https://ror.org/05cz92x43","country_code":"US","type":"funder","lineage":["https://openalex.org/I4210147586"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"James R. Lupski","raw_affiliation_strings":["Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210147586"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5000612576"],"corresponding_institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210147586"],"apc_list":null,"apc_paid":null,"fwci":2.9929,"has_fulltext":true,"cited_by_count":39,"citation_normalized_percentile":{"value":0.90919859,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"57","issue":"1-2","first_page":"3","last_page":"16"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.37790000438690186,"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":0.37790000438690186,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.34380000829696655,"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/T10116","display_name":"Sperm and Testicular Function","score":0.20559999346733093,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.7870000004768372},{"id":"https://openalex.org/keywords/genomic-rearrangements","display_name":"genome rearrangement","score":0.8709999918937683},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.9110000133514404},{"id":"https://openalex.org/keywords/y-chromosome","display_name":"Y chromosome","score":0.8939999938011169},{"id":"https://openalex.org/keywords/y-chromosome-deletion","display_name":"Y chromosome deletion","score":0.8859999775886536},{"id":"https://openalex.org/keywords/direct-and-inverted-repeats","display_name":"direct and inverted repeats","score":0.6690000295639038},{"id":"https://openalex.org/keywords/palindromes","display_name":"palindromes","score":0.925000011920929},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.722000002861023},{"id":"https://openalex.org/keywords/spermatogenesis","display_name":"spermatogenesis","score":0.8349999785423279},{"id":"https://openalex.org/keywords/genomic-disorders","display_name":"genomic disorders","score":0.4350000023841858}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8074087500572205},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7240753173828125},{"id":"https://openalex.org/C178169997","wikidata":"https://www.wikidata.org/wiki/Q2892636","display_name":"Genome instability","level":4,"score":0.7016829252243042},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.6377404928207397},{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.5982120037078857},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5493379831314087},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5175830125808716},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4927106201648712},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.4793206453323364},{"id":"https://openalex.org/C22322919","wikidata":"https://www.wikidata.org/wiki/Q5533501","display_name":"Genomic organization","level":4,"score":0.45271265506744385},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.4497133493423462},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.4431290030479431},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.4347293972969055},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.34759682416915894},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3052981495857239},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2612479329109192},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.12399837374687195},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004843","descriptor_name":"Epistasis, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004843","descriptor_name":"Epistasis, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004843","descriptor_name":"Epistasis, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004843","descriptor_name":"Epistasis, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","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":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029589","descriptor_name":"Seminal Plasma Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029589","descriptor_name":"Seminal Plasma Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029589","descriptor_name":"Seminal Plasma Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029589","descriptor_name":"Seminal Plasma Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3109/19396368.2010.527427","doi":"https://doi.org/10.3109/19396368.2010.527427","is_oa":true,"landing_page_url":"https://doi.org/10.3109/19396368.2010.527427","pdf_url":"https://www.tandfonline.com/doi/pdf/10.3109/19396368.2010.527427?needAccess=true&role=button","source":{"id":"https://openalex.org/S171426405","display_name":"Systems Biology in Reproductive Medicine","issn_l":"1939-6368","issn":["1939-6368","1939-6376"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Systems Biology in Reproductive Medicine","raw_type":"journal-article"},{"id":"pmid:21210740","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21210740","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":"Systems biology in reproductive medicine","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3179416","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3179416","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Syst Biol Reprod Med","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.3109/19396368.2010.527427","doi":"https://doi.org/10.3109/19396368.2010.527427","is_oa":true,"landing_page_url":"https://doi.org/10.3109/19396368.2010.527427","pdf_url":"https://www.tandfonline.com/doi/pdf/10.3109/19396368.2010.527427?needAccess=true&role=button","source":{"id":"https://openalex.org/S171426405","display_name":"Systems Biology in Reproductive Medicine","issn_l":"1939-6368","issn":["1939-6368","1939-6376"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Systems Biology in Reproductive Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G2544796598","display_name":"COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE","funder_award_id":"R01NS058529","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G5361928714","display_name":"Baylor Intellectual and Developmental Disabilities Research Center","funder_award_id":"P30HD024064","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7057538999","display_name":"General Clinical Research Center","funder_award_id":"M01RR000188","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G71706220","display_name":null,"funder_award_id":"M01 RR-00188","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320309543","display_name":"Texas Children's Hospital","ror":"https://ror.org/05cz92x43"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"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"},{"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":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2005283101.pdf","grobid_xml":"https://content.openalex.org/works/W2005283101.grobid-xml"},"referenced_works_count":120,"referenced_works":["https://openalex.org/W1517532080","https://openalex.org/W1728870216","https://openalex.org/W1753029111","https://openalex.org/W1928897054","https://openalex.org/W1964013868","https://openalex.org/W1965531809","https://openalex.org/W1967352352","https://openalex.org/W1967368474","https://openalex.org/W1969892080","https://openalex.org/W1970687210","https://openalex.org/W1972791069","https://openalex.org/W1975220929","https://openalex.org/W1979250362","https://openalex.org/W1983430515","https://openalex.org/W1989153414","https://openalex.org/W1991093820","https://openalex.org/W1993113631","https://openalex.org/W1997647094","https://openalex.org/W2001730931","https://openalex.org/W2002252858","https://openalex.org/W2002444285","https://openalex.org/W2004744868","https://openalex.org/W2006431749","https://openalex.org/W2007325090","https://openalex.org/W2013550946","https://openalex.org/W2013660548","https://openalex.org/W2017151800","https://openalex.org/W2019469673","https://openalex.org/W2019491357","https://openalex.org/W2019657496","https://openalex.org/W2021998028","https://openalex.org/W2025463842","https://openalex.org/W2025851119","https://openalex.org/W2026502449","https://openalex.org/W2026537232","https://openalex.org/W2027335734","https://openalex.org/W2028152017","https://openalex.org/W2030347425","https://openalex.org/W2031416354","https://openalex.org/W2032794174","https://openalex.org/W2033715497","https://openalex.org/W2034979835","https://openalex.org/W2035120673","https://openalex.org/W2035213969","https://openalex.org/W2036800615","https://openalex.org/W2041723064","https://openalex.org/W2042482078","https://openalex.org/W2045040686","https://openalex.org/W2047803717","https://openalex.org/W2052860512","https://openalex.org/W2055580090","https://openalex.org/W2055937107","https://openalex.org/W2056747353","https://openalex.org/W2058790676","https://openalex.org/W2062781857","https://openalex.org/W2066012419","https://openalex.org/W2070785575","https://openalex.org/W2072310270","https://openalex.org/W2078075583","https://openalex.org/W2084378906","https://openalex.org/W2090674469","https://openalex.org/W2092112818","https://openalex.org/W2096582885","https://openalex.org/W2097512118","https://openalex.org/W2098198038","https://openalex.org/W2100657356","https://openalex.org/W2101652213","https://openalex.org/W2101958699","https://openalex.org/W2102260873","https://openalex.org/W2103256993","https://openalex.org/W2103339246","https://openalex.org/W2106021702","https://openalex.org/W2106982327","https://openalex.org/W2107478853","https://openalex.org/W2107611316","https://openalex.org/W2107923962","https://openalex.org/W2108967510","https://openalex.org/W2112363802","https://openalex.org/W2112438558","https://openalex.org/W2112468159","https://openalex.org/W2113773171","https://openalex.org/W2118192474","https://openalex.org/W2120096461","https://openalex.org/W2121186261","https://openalex.org/W2122394651","https://openalex.org/W2123166069","https://openalex.org/W2128707017","https://openalex.org/W2130929529","https://openalex.org/W2131014583","https://openalex.org/W2131955331","https://openalex.org/W2133482618","https://openalex.org/W2141840718","https://openalex.org/W2142701631","https://openalex.org/W2144773702","https://openalex.org/W2146280921","https://openalex.org/W2146341686","https://openalex.org/W2146892790","https://openalex.org/W2147429782","https://openalex.org/W2149487092","https://openalex.org/W2154263589","https://openalex.org/W2154332823","https://openalex.org/W2155166404","https://openalex.org/W2156851441","https://openalex.org/W2157716364","https://openalex.org/W2159163928","https://openalex.org/W2160507860","https://openalex.org/W2163097146","https://openalex.org/W2163177727","https://openalex.org/W2163849750","https://openalex.org/W2164997814","https://openalex.org/W2165506990","https://openalex.org/W2166645045","https://openalex.org/W2167264570","https://openalex.org/W2167482501","https://openalex.org/W2169580995","https://openalex.org/W2171619679","https://openalex.org/W2171787074","https://openalex.org/W2330212158","https://openalex.org/W4233905353","https://openalex.org/W4300895455"],"related_works":["https://openalex.org/W4285083970","https://openalex.org/W2031730277","https://openalex.org/W170150963","https://openalex.org/W2378012486","https://openalex.org/W2070570751","https://openalex.org/W2989693122","https://openalex.org/W4384497608","https://openalex.org/W2414707959","https://openalex.org/W2555628653","https://openalex.org/W2108967510"],"abstract_inverted_index":{"Genomic":[0],"disorders":[1],"are":[2,27],"defined":[3],"as":[4,24],"diseases":[5],"caused":[6],"by":[7,13],"rearrangements":[8,33,118],"of":[9,60,78,95,97,115],"the":[10,75,79,113],"genome":[11],"incited":[12],"a":[14,45,104],"genomic":[15,38,76,87,117],"architecture":[16],"that":[17,68],"conveys":[18],"instability.":[19],"Y-chromosome":[20,41,80,123],"related":[21],"dysfunctions":[22],"such":[23],"male":[25,51,127],"infertility":[26],"frequently":[28],"associated":[29,125],"with":[30,63,103,126],"gross":[31],"DNA":[32,71],"resulting":[34],"from":[35],"its":[36],"peculiar":[37],"architecture.":[39],"The":[40],"has":[42],"evolved":[43],"into":[44],"highly":[46,64],"specialized":[47],"chromosome":[48,86],"to":[49],"perform":[50],"functions,":[52],"mainly":[53],"spermatogenesis.":[54,108],"Direct":[55],"and":[56,121],"inverted":[57],"repeats,":[58],"some":[59],"them":[61],"palindromes":[62],"identical":[65],"nucleotide":[66],"sequences":[67],"can":[69,89],"form":[70],"cruciform":[72],"structures,":[73],"characterize":[74],"structure":[77],"long":[81],"arm.":[82],"Some":[83],"particular":[84],"Y":[85],"deletions":[88,124],"cause":[90],"spermatogenic":[91],"failure":[92],"likely":[93],"because":[94],"removal":[96],"one":[98],"or":[99],"more":[100],"transcriptional":[101],"units":[102],"potential":[105],"role":[106],"in":[107],"We":[109],"describe":[110],"mechanisms":[111],"underlying":[112],"formation":[114],"human":[116],"on":[119],"autosomes":[120],"review":[122],"infertility.":[128]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}