{"id":"https://openalex.org/W2016400607","doi":"https://doi.org/10.1017/s0016672313000141","title":"Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism","display_name":"Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism","publication_year":2013,"publication_date":"2013-08-01","ids":{"openalex":"https://openalex.org/W2016400607","doi":"https://doi.org/10.1017/s0016672313000141","mag":"2016400607","pmid":"https://pubmed.ncbi.nlm.nih.gov/24074368"},"language":"en","primary_location":{"id":"doi:10.1017/s0016672313000141","doi":"https://doi.org/10.1017/s0016672313000141","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672313000141","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/618591E80AB97642F25DA7B7D5750E45/S0016672313000141a.pdf/div-class-title-missense-mutation-in-the-span-class-italic-men1-span-gene-discovered-through-whole-exome-sequencing-co-segregates-with-familial-hyperparathyroidism-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/618591E80AB97642F25DA7B7D5750E45/S0016672313000141a.pdf/div-class-title-missense-mutation-in-the-span-class-italic-men1-span-gene-discovered-through-whole-exome-sequencing-co-segregates-with-familial-hyperparathyroidism-div.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022993615","display_name":"Ofer Isakov","orcid":"https://orcid.org/0000-0003-0955-0802","observed_orcids":["https://orcid.org/0000-0003-0955-0802"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"OFER ISAKOV","raw_affiliation_strings":["Department of Cell and Developmental Biology, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008009117","display_name":"Erica S. Rinella","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"ERICA S. RINELLA","raw_affiliation_strings":["Department of Surgery, New York University Langone Medical Center, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, New York University Langone Medical Center, New York, NY, USA","institution_ids":["https://openalex.org/I4210086933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077809639","display_name":"David Olchovsky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"DAVID OLCHOVSKY","raw_affiliation_strings":["Department of Internal Medicine A, The Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine A, The Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067846755","display_name":"Ilan Shimon","orcid":"https://orcid.org/0000-0002-9188-3894","observed_orcids":["https://orcid.org/0000-0002-9188-3894"]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"ILAN SHIMON","raw_affiliation_strings":["The Endocrine institute, Rabin Medical Center, Petach Tikvah, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Endocrine institute, Rabin Medical Center, Petach Tikvah, Israel","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043561947","display_name":"Harry Ostrer M. D","orcid":"https://orcid.org/0000-0002-2209-5376","observed_orcids":["https://orcid.org/0000-0002-2209-5376","https://orcid.org/0000-0002-9251-3457"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"HARRY OSTRER","raw_affiliation_strings":["Department of Pathology, Albert Einstein College of Medicine, The Bronx, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Albert Einstein College of Medicine, The Bronx, New York, NY, USA","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008264999","display_name":"Noam Shomron","orcid":"https://orcid.org/0000-0001-9913-6124","observed_orcids":["https://orcid.org/0000-0001-9913-6124"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"NOAM SHOMRON","raw_affiliation_strings":["Department of Cell and Developmental Biology, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031247002","display_name":"Eitan Friedman","orcid":"https://orcid.org/0000-0002-6745-1733","observed_orcids":["https://orcid.org/0000-0002-6745-1733"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"EITAN FRIEDMAN","raw_affiliation_strings":["Department of Internal medicine, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel","The Oncogenetics Unit, The Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal medicine, The Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"The Oncogenetics Unit, The Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel","institution_ids":["https://openalex.org/I2799810450"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5031247002"],"corresponding_institution_ids":["https://openalex.org/I16391192","https://openalex.org/I2799810450"],"apc_list":{"value":2100,"currency":"USD","value_usd":2100},"apc_paid":null,"fwci":0.7568,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.75047407,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"95","issue":"4","first_page":"114","last_page":"120"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.7045999765396118,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.7045999765396118,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.23340000212192535,"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/T11728","display_name":"Thyroid and Parathyroid Surgery","score":0.00419999985024333,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/familial-isolated-hyperparathyroidism","display_name":"familial isolated hyperparathyroidism","score":0.9580000042915344},{"id":"https://openalex.org/keywords/men1-gene","display_name":"MEN1 gene","score":0.9520000219345093},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8820000290870667},{"id":"https://openalex.org/keywords/multiple-endocrine-neoplasia-type-1","display_name":"multiple endocrine neoplasia type 1","score":0.9580000042915344},{"id":"https://openalex.org/keywords/familial-hypocalciuric-hypercalcaemia","display_name":"familial hypocalciuric hypercalcaemia","score":0.9800000190734863},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.734000027179718},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9150000214576721},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7770000100135803}],"concepts":[{"id":"https://openalex.org/C2779469564","wikidata":"https://www.wikidata.org/wiki/Q1920577","display_name":"MEN1","level":4,"score":0.7818925380706787},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7404589056968689},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7308644652366638},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6744905710220337},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.6697309017181396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5334425568580627},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.47491204738616943},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.466092973947525},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4359531104564667},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3064190149307251},{"id":"https://openalex.org/C2780103800","wikidata":"https://www.wikidata.org/wiki/Q1553018","display_name":"Multiple endocrine neoplasia","level":3,"score":0.26928001642227173}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D049950","descriptor_name":"Hyperparathyroidism, Primary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1017/s0016672313000141","doi":"https://doi.org/10.1017/s0016672313000141","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672313000141","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/618591E80AB97642F25DA7B7D5750E45/S0016672313000141a.pdf/div-class-title-missense-mutation-in-the-span-class-italic-men1-span-gene-discovered-through-whole-exome-sequencing-co-segregates-with-familial-hyperparathyroidism-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},{"id":"pmid:24074368","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24074368","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":"Genetics research","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1017/s0016672313000141","doi":"https://doi.org/10.1017/s0016672313000141","is_oa":true,"landing_page_url":"https://doi.org/10.1017/s0016672313000141","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/618591E80AB97642F25DA7B7D5750E45/S0016672313000141a.pdf/div-class-title-missense-mutation-in-the-span-class-italic-men1-span-gene-discovered-through-whole-exome-sequencing-co-segregates-with-familial-hyperparathyroidism-div.pdf","source":{"id":"https://openalex.org/S31188771","display_name":"Genetics Research","issn_l":"0016-6723","issn":["0016-6723","1469-5073"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2016400607.pdf","grobid_xml":"https://content.openalex.org/works/W2016400607.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W1973950074","https://openalex.org/W1978647937","https://openalex.org/W1984068087","https://openalex.org/W1986303704","https://openalex.org/W1986685849","https://openalex.org/W1988517195","https://openalex.org/W1988743571","https://openalex.org/W1998767819","https://openalex.org/W1999895438","https://openalex.org/W2023367466","https://openalex.org/W2036320109","https://openalex.org/W2038473742","https://openalex.org/W2057168818","https://openalex.org/W2057545775","https://openalex.org/W2059145105","https://openalex.org/W2059214604","https://openalex.org/W2063821942","https://openalex.org/W2076014360","https://openalex.org/W2076357933","https://openalex.org/W2083381199","https://openalex.org/W2085065009","https://openalex.org/W2103017472","https://openalex.org/W2117403606","https://openalex.org/W2117446594","https://openalex.org/W2117513049","https://openalex.org/W2118860740","https://openalex.org/W2119180969","https://openalex.org/W2128016314","https://openalex.org/W2143238378","https://openalex.org/W2145191876","https://openalex.org/W2145930493","https://openalex.org/W2152117476","https://openalex.org/W2155653061","https://openalex.org/W2157212789","https://openalex.org/W2161978970","https://openalex.org/W2163571202","https://openalex.org/W2165633518","https://openalex.org/W2171395146","https://openalex.org/W2915108429","https://openalex.org/W4210347168","https://openalex.org/W4252094365","https://openalex.org/W6833573879"],"related_works":["https://openalex.org/W2103381518","https://openalex.org/W7099829845","https://openalex.org/W1971417820","https://openalex.org/W2971705961","https://openalex.org/W2139623777","https://openalex.org/W2018702952","https://openalex.org/W1991814708","https://openalex.org/W2114499003","https://openalex.org/W2159947968","https://openalex.org/W2065854414"],"abstract_inverted_index":{"Familial":[0],"isolated":[1],"hyperparathyroidism":[2,17,97],"(FIHP)":[3],"can":[4],"be":[5],"encountered":[6],"in":[7,24,34,68,150,182,189,196,212,223],"the":[8,35,49,63,107,113,128,139,163,169,183,190,197,206,213,220],"context":[9],"of":[10,57,66,127,138,165,208,219,230],"multiple":[11],"endocrine":[12],"neoplasia":[13],"type":[14],"1":[15],"(MEN1),":[16],"and":[18,23,40,79,86,104,112,122,133,141,153,160,202,216],"jaw":[19],"tumour":[20],"syndrome":[21],"(HPT-JT)":[22],"familial":[25],"hypocalciuric":[26],"hypercalcaemia":[27],"(FHH).":[28],"In":[29,45],"these":[30],"syndromes,":[31],"germline":[32],"mutations":[33,140],"relevant":[36],"genes":[37],"(MEN1,":[38],"HPRT2":[39],"CaSR,":[41],"respectively)":[42],"are":[43],"detected.":[44],"some":[46],"FIHP":[47,67,74],"cases,":[48],"causative":[50],"gene":[51,192,215],"is":[52,60],"still":[53],"elusive.":[54],"The":[55,186,227],"objective":[56],"this":[58,231,240],"study":[59],"to":[61,100,168,205],"define":[62],"genetic":[64],"basis":[65],"a":[69,90,125,173,209,224,235],"Georgian":[70],"Jewish":[71],"family":[72,92,155],"with":[73,95],"using":[75,106,124],"whole":[76,101],"exome":[77,102,158,200],"capture":[78,159,201],"sequencing.":[80],"DNA":[81],"extracted":[82],"from":[83,89],"two":[84],"sibs":[85],"one":[87],"offspring":[88],"single":[91,225],"all":[93],"affected":[94,152],"multiglandular":[96],"was":[98],"subjected":[99],"capturing":[103],"sequencing":[105,116,149,161,203],"Roche":[108],"NimbleGen":[109],"V2":[110],"chip":[111],"Illumina":[114],"HiSeq2000":[115],"platform.":[117],"Genetic":[118],"variants":[119],"were":[120,144],"detected":[121],"annotated":[123],"combination":[126],"Genome":[129],"Analysis":[130],"Tool":[131],"Kit":[132],"in-house":[134],"scripts.":[135],"Subsequent":[136],"confirmation":[137],"co-segregation":[142,195],"analyses":[143],"carried":[145],"out":[146,218],"by":[147],"Sanger":[148],"additional":[151,221],"unaffected":[154],"members.":[156],"Whole":[157,199],"revealed":[162],"collection":[164],"variations":[166],"common":[167],"three-sequenced":[170],"patients,":[171],"including":[172],"very":[174],"rare":[175],"previously":[176],"described":[177],"missense":[178,210],"mutation":[179,188,211,232],"(c.T1021C:":[180],"p.W341R)":[181],"MEN1":[184,191,214],"gene.":[185],"p.W341R":[187],"showed":[193],"complete":[194],"family.":[198],"led":[204],"discovery":[207],"ruling":[217],"candidates":[222],"experiment.":[226],"limited":[228],"expressivity":[229],"may":[233],"imply":[234],"specific":[236],"genotype-phenotype":[237],"correlation":[238],"for":[239],"mutation.":[241]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
