{"id":"https://openalex.org/W2015478374","doi":"https://doi.org/10.1002/jbmr.385","title":"Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese","display_name":"Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese","publication_year":2011,"publication_date":"2011-03-14","ids":{"openalex":"https://openalex.org/W2015478374","doi":"https://doi.org/10.1002/jbmr.385","mag":"2015478374","pmid":"https://pubmed.ncbi.nlm.nih.gov/21404329"},"language":"en","primary_location":{"id":"doi:10.1002/jbmr.385","doi":"https://doi.org/10.1002/jbmr.385","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jbmr.385","pdf_url":null,"source":{"id":"https://openalex.org/S128199769","display_name":"Journal of Bone and Mineral Research","issn_l":"0884-0431","issn":["0884-0431","1523-4681"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Bone and Mineral Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019849200","display_name":"Tetsutaro Yamaguchi","orcid":"https://orcid.org/0000-0001-9806-7163","observed_orcids":["https://orcid.org/0000-0001-9806-7163"]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tetsutaro Yamaguchi","raw_affiliation_strings":["Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010644445","display_name":"Kazuyoshi Hosomichi","orcid":"https://orcid.org/0000-0003-2712-1825","observed_orcids":["https://orcid.org/0000-0003-2712-1825"]},"institutions":[{"id":"https://openalex.org/I113198587","display_name":"National Institute of Genetics","ror":"https://ror.org/02xg1m795","country_code":"JP","type":"facility","lineage":["https://openalex.org/I113198587","https://openalex.org/I1319490839","https://openalex.org/I4210158934"]},{"id":"https://openalex.org/I1314466530","display_name":"Tokai University","ror":"https://ror.org/01p7qe739","country_code":"JP","type":"education","lineage":["https://openalex.org/I1314466530"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuyoshi Hosomichi","raw_affiliation_strings":["Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan","Division of Human Genetics, National Institute of Genetics, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan","institution_ids":["https://openalex.org/I1314466530"]},{"raw_affiliation_string":"Division of Human Genetics, National Institute of Genetics, Shizuoka, Japan","institution_ids":["https://openalex.org/I113198587"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012113903","display_name":"Akira Narita","orcid":"https://orcid.org/0000-0002-9076-0710","observed_orcids":["https://orcid.org/0000-0002-9076-0710"]},"institutions":[{"id":"https://openalex.org/I1314466530","display_name":"Tokai University","ror":"https://ror.org/01p7qe739","country_code":"JP","type":"education","lineage":["https://openalex.org/I1314466530"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Narita","raw_affiliation_strings":["Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan","institution_ids":["https://openalex.org/I1314466530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073939971","display_name":"Tatsuo Shirota","orcid":"https://orcid.org/0000-0001-9928-539X","observed_orcids":["https://orcid.org/0000-0001-9928-539X"]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tatsuo Shirota","raw_affiliation_strings":["Department of Oral Maxillofacial Surgery, School of Dentistry, Showa University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Oral Maxillofacial Surgery, School of Dentistry, Showa University, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014258879","display_name":"Yoko Tomoyasu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoko Tomoyasu","raw_affiliation_strings":["Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112145058","display_name":"Koutaro Maki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Koutaro Maki","raw_affiliation_strings":["Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101851209","display_name":"Ituro Inoue","orcid":"https://orcid.org/0000-0003-1706-8493","observed_orcids":["https://orcid.org/0000-0003-1706-8493","https://orcid.org/0000-0001-7373-3043"]},"institutions":[{"id":"https://openalex.org/I113198587","display_name":"National Institute of Genetics","ror":"https://ror.org/02xg1m795","country_code":"JP","type":"facility","lineage":["https://openalex.org/I113198587","https://openalex.org/I1319490839","https://openalex.org/I4210158934"]},{"id":"https://openalex.org/I1314466530","display_name":"Tokai University","ror":"https://ror.org/01p7qe739","country_code":"JP","type":"education","lineage":["https://openalex.org/I1314466530"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Ituro Inoue","raw_affiliation_strings":["Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan","Division of Human Genetics, National Institute of Genetics, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Life Science, School of Medicine, Tokai University, Kanagawa, Japan","institution_ids":["https://openalex.org/I1314466530"]},{"raw_affiliation_string":"Division of Human Genetics, National Institute of Genetics, Shizuoka, Japan","institution_ids":["https://openalex.org/I113198587"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5101851209"],"corresponding_institution_ids":["https://openalex.org/I113198587","https://openalex.org/I1314466530"],"apc_list":{"value":3780,"currency":"USD","value_usd":3780},"apc_paid":null,"fwci":7.1324,"has_fulltext":false,"cited_by_count":67,"citation_normalized_percentile":{"value":0.9724545,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":99},"biblio":{"volume":"26","issue":"7","first_page":"1655","last_page":"1661"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9682999849319458,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9682999849319458,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.02160000056028366,"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/T12110","display_name":"Bone and Dental Protein Studies","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pth1r","display_name":"PTH1R","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.6039999723434448},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7549999952316284},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.8429999947547913},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.7689999938011169},{"id":"https://openalex.org/keywords/exome-resequencing","display_name":"exome resequencing","score":0.9580000042915344},{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.8479999899864197},{"id":"https://openalex.org/keywords/japanese-family","display_name":"Japanese family","score":0.5249999761581421}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7174423933029175},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5586225986480713},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.5434683561325073},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4898359477519989},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4455031454563141},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.4301295876502991},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4227452874183655},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33850836753845215},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3283933401107788},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21256482601165771},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1872660219669342}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D007564","descriptor_name":"Japan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014076","descriptor_name":"Tooth Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014078","descriptor_name":"Tooth Eruption","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","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":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044168","descriptor_name":"Receptor, Parathyroid Hormone, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044168","descriptor_name":"Receptor, Parathyroid Hormone, Type 1","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/jbmr.385","doi":"https://doi.org/10.1002/jbmr.385","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jbmr.385","pdf_url":null,"source":{"id":"https://openalex.org/S128199769","display_name":"Journal of Bone and Mineral Research","issn_l":"0884-0431","issn":["0884-0431","1523-4681"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Bone and Mineral Research","raw_type":"journal-article"},{"id":"pmid:21404329","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21404329","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":"Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W61452641","https://openalex.org/W1534645474","https://openalex.org/W1539475798","https://openalex.org/W1967883890","https://openalex.org/W1973878786","https://openalex.org/W1992950425","https://openalex.org/W1994884962","https://openalex.org/W2005284789","https://openalex.org/W2006139885","https://openalex.org/W2006879227","https://openalex.org/W2007713751","https://openalex.org/W2011205383","https://openalex.org/W2036210716","https://openalex.org/W2039783092","https://openalex.org/W2055198191","https://openalex.org/W2073152395","https://openalex.org/W2075108151","https://openalex.org/W2078132744","https://openalex.org/W2085596775","https://openalex.org/W2090900329","https://openalex.org/W2091137045","https://openalex.org/W2102101936","https://openalex.org/W2103441770","https://openalex.org/W2105306382","https://openalex.org/W2117507019","https://openalex.org/W2120715807","https://openalex.org/W2139996507","https://openalex.org/W2152745352","https://openalex.org/W2156532086","https://openalex.org/W2156682970","https://openalex.org/W2159023535","https://openalex.org/W2323563431","https://openalex.org/W2329646958","https://openalex.org/W2428028886","https://openalex.org/W4302408270"],"related_works":["https://openalex.org/W2304351170","https://openalex.org/W4402891671","https://openalex.org/W4385063991","https://openalex.org/W1996816925","https://openalex.org/W4200183610","https://openalex.org/W2988230613","https://openalex.org/W7131907058","https://openalex.org/W1855257863","https://openalex.org/W2002643158","https://openalex.org/W4296125704"],"abstract_inverted_index":{"Massively":[0],"parallel":[1,107],"sequencing":[2],"of":[3,34,43,65,88,134,221,226],"target":[4],"regions,":[5],"exomes,":[6],"and":[7,22,53,59,73,98,114,160,169,188,192,211,228],"complete":[8],"genomes":[9],"has":[10],"begun":[11],"to":[12,31,38,121,209],"increase":[13],"the":[14,40,44,127,145,152,161,166,185,195,203,219,222],"opportunities":[15],"for":[16,101,124,154,239,243],"identifying":[17,240],"genetic":[18,41],"variants":[19,118,155,190,199],"underlying":[20],"rare":[21],"common":[23],"diseases":[24],"dramatically.":[25],"Here":[26],"we":[27,150],"applied":[28],"exome":[29,61,102,229],"resequencing":[30],"primary":[32],"failure":[33],"tooth":[35],"eruption":[36],"(PFE)":[37],"identify":[39],"causality":[42],"disease.":[45],"Two":[46],"Japanese":[47],"families":[48,68],"having":[49],"PFE":[50,147],"were":[51,96,119,201],"recruited":[52],"examined":[54],"by":[55,105],"genome-wide":[56],"linkage":[57,78,227],"study":[58,234],"subsequently":[60],"analyses.":[62],"Linkage":[63],"analyses":[64,230],"these":[66],"two":[67,74,170],"comprising":[69],"eight":[70],"affected":[71,91],"individuals":[72,76,92,172],"unaffected":[75],"revealed":[77],"signals":[79],"at":[80,156],"10":[81],"loci":[82],"with":[83,173],"a":[84,131,178,236],"maximum":[85],"LOD":[86],"score":[87],"1.5.":[89],"Four":[90],"in":[93,144,165,184,194,202,214,232],"one":[94],"family":[95,168,187],"pooled":[97],"further":[99],"processed":[100],"analysis,":[103],"followed":[104],"massive":[106],"sequencing.":[108],"After":[109],"three-step":[110],"filtering":[111],"including":[112],"annotation":[113],"functional":[115],"expectation,":[116],"three":[117,128],"found":[120],"be":[122],"candidates":[123],"PFE.":[125,174],"Among":[126],"variants,":[129],"only":[130],"novel":[132,179],"variant":[133],"parathyroid":[135],"hormone":[136],"1":[137],"receptor":[138],"gene":[139,153],"(PTH1R),":[140],"R383Q,":[141],"was":[142],"cosegregated":[143],"first":[146],"family.":[148],"Accordingly,":[149],"screened":[151],"all":[157,200],"coding":[158],"exons":[159],"respective":[162],"intron-exon":[163],"boundaries":[164],"second":[167,186],"sporadic":[171,196],"We":[175],"also":[176],"identified":[177],"missense":[180,189],"variant,":[181],"P119L,":[182],"cosegregating":[183],"P132L":[191],"R147C":[193],"cases.":[197],"These":[198],"highly":[204],"conserved":[205],"region":[206],"across":[207],"zebrafish":[208],"chimpanzee":[210],"not":[212],"observed":[213],"192":[215],"unrelated":[216],"controls,":[217],"supporting":[218],"pathogenicity":[220],"variants.":[223],"The":[224],"combination":[225],"employed":[231],"this":[233],"provides":[235],"powerful":[237],"strategy":[238],"genes":[241],"responsible":[242],"Mendelian":[244],"disorders.":[245]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}