{"id":"https://openalex.org/W1859936282","doi":"https://doi.org/10.1002/humu.22835","title":"Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population","display_name":"Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population","publication_year":2015,"publication_date":"2015-07-14","ids":{"openalex":"https://openalex.org/W1859936282","doi":"https://doi.org/10.1002/humu.22835","mag":"1859936282","pmid":"https://pubmed.ncbi.nlm.nih.gov/26173767"},"language":"en","primary_location":{"id":"doi:10.1002/humu.22835","doi":"https://doi.org/10.1002/humu.22835","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22835","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22835","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22835","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008434655","display_name":"Hicham Charoute","orcid":"https://orcid.org/0000-0002-9338-6744","observed_orcids":["https://orcid.org/0000-0002-9338-6744"]},"institutions":[{"id":"https://openalex.org/I4210145365","display_name":"Universit\u00e9 Hassan 1er","ror":"https://ror.org/03cdvht47","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210145365"]},{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Hicham Charoute","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","Laboratory of Agri-food and Health; Faculty of Sciences and Techniques; Hassan 1st University; BP 577 26000 Settat Morocco","Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000 Settat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]},{"raw_affiliation_string":"Laboratory of Agri-food and Health; Faculty of Sciences and Techniques; Hassan 1st University; BP 577 26000 Settat Morocco","institution_ids":["https://openalex.org/I4210145365"]},{"raw_affiliation_string":"Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000 Settat, Morocco","institution_ids":["https://openalex.org/I4210145365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034236258","display_name":"Amina Bakhchane","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Amina Bakhchane","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072282239","display_name":"Houda Benrahma","orcid":"https://orcid.org/0000-0002-7523-2581","observed_orcids":["https://orcid.org/0000-0002-7523-2581"]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Houda Benrahma","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062052623","display_name":"Lilia Romdhane","orcid":"https://orcid.org/0000-0001-5310-7272","observed_orcids":["https://orcid.org/0000-0001-5310-7272"]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Lilia Romdhane","raw_affiliation_strings":["Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05; Institut Pasteur de Tunis; 1002 Tunis Tunisia","Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002 Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05; Institut Pasteur de Tunis; 1002 Tunis Tunisia","institution_ids":["https://openalex.org/I4210142087"]},{"raw_affiliation_string":"Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002 Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082838928","display_name":"Khalid Gabi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Khalid Gabi","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100726066","display_name":"Hassan Rouba","orcid":"https://orcid.org/0000-0002-1153-9170","observed_orcids":["https://orcid.org/0000-0002-1153-9170"]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Hassan Rouba","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071732408","display_name":"Malika Fakiri","orcid":"https://orcid.org/0000-0001-6029-5419","observed_orcids":["https://orcid.org/0000-0001-6029-5419"]},"institutions":[{"id":"https://openalex.org/I4210145365","display_name":"Universit\u00e9 Hassan 1er","ror":"https://ror.org/03cdvht47","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210145365"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Malika Fakiri","raw_affiliation_strings":["Laboratory of Agri-food and Health; Faculty of Sciences and Techniques; Hassan 1st University; BP 577 26000 Settat Morocco","Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000 Settat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Agri-food and Health; Faculty of Sciences and Techniques; Hassan 1st University; BP 577 26000 Settat Morocco","institution_ids":["https://openalex.org/I4210145365"]},{"raw_affiliation_string":"Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000 Settat, Morocco","institution_ids":["https://openalex.org/I4210145365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052338940","display_name":"Sonia Abdelhak","orcid":"https://orcid.org/0000-0001-8466-5525","observed_orcids":["https://orcid.org/0000-0001-8466-5525"]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sonia Abdelhak","raw_affiliation_strings":["Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05; Institut Pasteur de Tunis; 1002 Tunis Tunisia","Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002 Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05; Institut Pasteur de Tunis; 1002 Tunis Tunisia","institution_ids":["https://openalex.org/I4210142087"]},{"raw_affiliation_string":"Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002 Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087178679","display_name":"Guy Lenaers","orcid":"https://orcid.org/0000-0003-2736-3349","observed_orcids":["https://orcid.org/0000-0003-2736-3349"]},"institutions":[{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Guy Lenaers","raw_affiliation_strings":["P\u00f4le de Recherche et d'Enseignement en M\u00e9decine Mitochondriale (PREMMi); Universit\u00e9 d'Angers; CHU B\u00e2t IRIS/IBS; Rue des Capucins; 49933 Angers cedex 9 France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P\u00f4le de Recherche et d'Enseignement en M\u00e9decine Mitochondriale (PREMMi); Universit\u00e9 d'Angers; CHU B\u00e2t IRIS/IBS; Rue des Capucins; 49933 Angers cedex 9 France","institution_ids":["https://openalex.org/I49451733"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5083624704","display_name":"Abdelhamid Barakat","orcid":"https://orcid.org/0000-0002-6239-0281","observed_orcids":["https://orcid.org/0000-0002-6239-0281"]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":true,"raw_author_name":"Abdelhamid Barakat","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Humaine; Institut Pasteur du Maroc; 1 Place Louis Pasteur 20360 Casablanca Morocco","institution_ids":["https://openalex.org/I4210151823"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5083624704"],"corresponding_institution_ids":["https://openalex.org/I4210151823"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.4108,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.65101527,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"36","issue":"11","first_page":"E2441","last_page":"E2453"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8773999810218811,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.8773999810218811,"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/T10751","display_name":"Forensic and Genetic Research","score":0.09769999980926514,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.01860000006854534,"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/founder-mutation","display_name":"founder mutation","score":0.996999979019165},{"id":"https://openalex.org/keywords/mediterranean-populations","display_name":"Mediterranean populations","score":0.9129999876022339},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.8140000104904175},{"id":"https://openalex.org/keywords/genetic-diversity","display_name":"genetic diversity","score":0.8659999966621399},{"id":"https://openalex.org/keywords/migration-history","display_name":"migration history","score":0.875},{"id":"https://openalex.org/keywords/coalescence-time","display_name":"coalescence time","score":0.9210000038146973},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.7799999713897705},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.6420000195503235},{"id":"https://openalex.org/keywords/online-databases","display_name":"online databases","score":0.6610000133514404}],"concepts":[{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.8629899024963379},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7254997491836548},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6614440083503723},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6165027618408203},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5185380578041077},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3449748754501343},{"id":"https://openalex.org/C53553401","wikidata":"https://www.wikidata.org/wiki/Q47307","display_name":"Genealogy","level":1,"score":0.33218348026275635},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24780678749084473},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.22295713424682617},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.16475018858909607},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.158756822347641},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.10479098558425903},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D004641","descriptor_name":"Emigration and Immigration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004641","descriptor_name":"Emigration and Immigration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004641","descriptor_name":"Emigration and Immigration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","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},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019083","descriptor_name":"Mediterranean Region","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019083","descriptor_name":"Mediterranean Region","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019083","descriptor_name":"Mediterranean Region","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064878","descriptor_name":"Web Browser","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064878","descriptor_name":"Web Browser","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064878","descriptor_name":"Web Browser","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/humu.22835","doi":"https://doi.org/10.1002/humu.22835","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22835","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22835","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:26173767","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26173767","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 mutation","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:pasteur-01375020v1","doi":null,"is_oa":false,"landing_page_url":"https://riip.hal.science/pasteur-01375020","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Human Mutation, 2015, 36 (11), pp.E2441-53. ⟨10.1002/humu.22835⟩","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1002/humu.22835","doi":"https://doi.org/10.1002/humu.22835","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22835","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22835","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.4043000042438507,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320323771","display_name":"Centre National pour la Recherche Scientifique et Technique","ror":"https://ror.org/00675rp98"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1859936282.pdf","grobid_xml":"https://content.openalex.org/works/W1859936282.grobid-xml"},"referenced_works_count":34,"referenced_works":["https://openalex.org/W126710093","https://openalex.org/W1484955509","https://openalex.org/W1529447609","https://openalex.org/W1822530807","https://openalex.org/W1830124374","https://openalex.org/W1935916792","https://openalex.org/W2003424072","https://openalex.org/W2005376832","https://openalex.org/W2011764996","https://openalex.org/W2048379538","https://openalex.org/W2062334496","https://openalex.org/W2064638810","https://openalex.org/W2090724057","https://openalex.org/W2097343897","https://openalex.org/W2098360455","https://openalex.org/W2098501056","https://openalex.org/W2099101325","https://openalex.org/W2101746551","https://openalex.org/W2106087860","https://openalex.org/W2113068730","https://openalex.org/W2121369273","https://openalex.org/W2123841856","https://openalex.org/W2129792234","https://openalex.org/W2140071469","https://openalex.org/W2144951993","https://openalex.org/W2145032084","https://openalex.org/W2154909271","https://openalex.org/W2161559061","https://openalex.org/W2164482269","https://openalex.org/W2164492970","https://openalex.org/W2915667579","https://openalex.org/W3142015861","https://openalex.org/W4254891076","https://openalex.org/W6645668516"],"related_works":["https://openalex.org/W2012422256","https://openalex.org/W2025261418","https://openalex.org/W2409614280","https://openalex.org/W1586437649","https://openalex.org/W2045251590","https://openalex.org/W1968394720","https://openalex.org/W2061172733","https://openalex.org/W4248490988","https://openalex.org/W1482128701","https://openalex.org/W2079016472"],"abstract_inverted_index":{"The":[0,72],"Mediterranean":[1,35,51,149],"basin":[2],"has":[3],"been":[4],"the":[5,34,50,58,100,134,144,148],"theater":[6],"of":[7,13,137,147],"migration":[8,145],"crossroads":[9],"followed":[10],"by":[11],"settlement":[12],"several":[14],"societies":[15],"and":[16,20,28,60,64,67,86,94,121,127],"cultures":[17],"in":[18,49,107],"prehistoric":[19],"historical":[21],"times,":[22],"with":[23],"important":[24],"consequences":[25],"on":[26],"genetic":[27,130],"genomic":[29],"determinisms.":[30],"Here,":[31],"we":[32],"present":[33],"Founder":[36],"Mutation":[37,53],"Database":[38],"(MFMD),":[39],"established":[40],"to":[41,45,111,123],"offer":[42],"web-based":[43],"access":[44],"founder":[46,77,104,138],"mutation":[47,78,84,87,92],"information":[48,73],"population.":[52,150],"data":[54],"were":[55],"collected":[56],"from":[57,156],"literature":[59],"other":[61],"online":[62],"resources":[63],"systematically":[65],"reviewed":[66],"assembled":[68],"into":[69],"this":[70],"database.":[71],"provided":[74],"for":[75],"each":[76],"includes":[79],"DNA":[80],"change,":[81,83],"amino-acid":[82],"type":[85],"effect,":[88],"as":[89,91],"well":[90],"frequency":[93],"coalescence":[95,135],"time":[96,136],"when":[97],"available.":[98],"Currently,":[99],"database":[101],"contains":[102],"383":[103],"mutations":[105,139],"found":[106],"210":[108],"genes":[109],"related":[110],"219":[112],"diseases.":[113],"We":[114],"believe":[115],"that":[116],"MFMD":[117,151],"will":[118],"help":[119],"scientists":[120],"physicians":[122],"design":[124],"more":[125],"rapid":[126],"less":[128],"expensive":[129],"diagnostic":[131],"tests.":[132],"Moreover,":[133],"gives":[140],"an":[141],"overview":[142],"about":[143],"history":[146],"can":[152],"be":[153],"publicly":[154],"accessed":[155],"http://mfmd.pasteur.ma.":[157]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}