{"id":"https://openalex.org/W2011534495","doi":"https://doi.org/10.1007/s004390050611","title":"No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome","display_name":"No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome","publication_year":1997,"publication_date":"1997-11-17","ids":{"openalex":"https://openalex.org/W2011534495","doi":"https://doi.org/10.1007/s004390050611","mag":"2011534495","pmid":"https://pubmed.ncbi.nlm.nih.gov/9402966"},"language":"en","primary_location":{"id":"doi:10.1007/s004390050611","doi":"https://doi.org/10.1007/s004390050611","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s004390050611","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5076162449","display_name":"Rachel Pesso","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":"Rachel Pesso","raw_affiliation_strings":["Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer, Israel","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052109501","display_name":"Gad Barkai","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":"G. Barkai","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109923907","display_name":"Yehoshua Ravia","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":"Yehoshua Ravia","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064418946","display_name":"Eva Gak","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":"E. Gak","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111781246","display_name":"Boleslaw Goldman","orcid":"https://orcid.org/0009-0002-5258-8953","observed_orcids":["https://orcid.org/0009-0002-5258-8953"]},"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":"Boleslaw Goldman","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","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/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":"E. Friedman","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055306825","display_name":"Moshe Frydman","orcid":"https://orcid.org/0000-0003-2631-756X","observed_orcids":["https://orcid.org/0000-0003-2631-756X"]},"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":"Moshe Frydman","raw_affiliation_strings":["The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139; e-mail: feitan@post.tau.ac.il, , , , , , IL","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"The Susanne Levy Oncogenetics Laboratory Genetics Institute, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel Fax: +972-3-546-2139","institution_ids":["https://openalex.org/I2799810450"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2799810450"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":0.1876,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.525617,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":96},"biblio":{"volume":"101","issue":"2","first_page":"186","last_page":"189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.8870000243186951},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9990000128746033},{"id":"https://openalex.org/keywords/ashkenazi-jews","display_name":"Ashkenazi Jews","score":0.8500000238418579},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.8180000185966492},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.8069999814033508},{"id":"https://openalex.org/keywords/microsatellite-markers","display_name":"microsatellite markers","score":0.9419999718666077},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.7749999761581421}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.848866879940033},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.800641655921936},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7257023453712463},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6922631859779358},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5628789067268372},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4848262071609497},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.4822190999984741},{"id":"https://openalex.org/C150152722","wikidata":"https://www.wikidata.org/wiki/Q9268","display_name":"Judaism","level":2,"score":0.45246362686157227},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.4482307434082031},{"id":"https://openalex.org/C60449816","wikidata":"https://www.wikidata.org/wiki/Q5113903","display_name":"Chromosomal fragile site","level":4,"score":0.43156522512435913},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3801747262477875},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2021077275276184},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.15045934915542603},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.11911800503730774},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.0},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D005060","descriptor_name":"Europe","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D007557","descriptor_name":"Israel","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D007585","descriptor_name":"Jews","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s004390050611","doi":"https://doi.org/10.1007/s004390050611","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s004390050611","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:9402966","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9402966","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":"Human genetics","raw_type":"Journal Article"}],"best_oa_location":null,"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":[{"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":6,"referenced_works":["https://openalex.org/W1505360591","https://openalex.org/W1989187665","https://openalex.org/W2022174739","https://openalex.org/W2026404296","https://openalex.org/W2100770813","https://openalex.org/W2149919973"],"related_works":["https://openalex.org/W2150407347","https://openalex.org/W1976881543","https://openalex.org/W2441355539","https://openalex.org/W189111694","https://openalex.org/W2413376040","https://openalex.org/W2994402083","https://openalex.org/W2106716577","https://openalex.org/W2021675877","https://openalex.org/W2920729611","https://openalex.org/W2080587379"],"abstract_inverted_index":null,"counts_by_year":[{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}