{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:07Z","timestamp":1772160067298,"version":"3.50.1"},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009983","name":"Center for Molecular Medicine Cologne, University of Cologne","doi-asserted-by":"publisher","award":["2635\/8029\/01"],"award-info":[{"award-number":["2635\/8029\/01"]}],"id":[{"id":"10.13039\/501100009983","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009983","name":"Center for Molecular Medicine Cologne, University of Cologne","doi-asserted-by":"publisher","award":["2635\/8326\/01"],"award-info":[{"award-number":["2635\/8326\/01"]}],"id":[{"id":"10.13039\/501100009983","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1111\/cge.14028","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T10:18:03Z","timestamp":1626430683000},"page":"486-488","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A 24\u2010generation\u2010old founder mutation impairs splicing of\n                    <scp>\n                      <i>RBBP8<\/i>\n                    <\/scp>\n                    in Pakistani families affected with Jawad syndrome"],"prefix":"10.1111","volume":"100","author":[{"given":"Emrah","family":"Kaygusuz","sequence":"first","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"},{"name":"Molecular Biology and Genetics Bilecik \u015eeyh Edebali University  Bilecik Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arwa Ishaq A.","family":"Khayyat","sequence":"additional","affiliation":[{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"},{"name":"Biochemistry Department King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzma","family":"Abdullah","sequence":"additional","affiliation":[{"name":"University Institute of Biochemistry and Biotechnology PMAS\u2010Arid Agriculture University  Rawalpindi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit Susanne","family":"Budde","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Asif","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilyas","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Institute for Cardiogenetics University of Luebeck  Luebeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehtisham Ul Haq","family":"Makhdoom","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"},{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"},{"name":"Department of Physiology Government College University  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilknur","family":"Sur\u2010Erdem","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Koc University School of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamshaid Mahmood","family":"Baig","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Biotechnology International Islamic University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Mohsin Ali","family":"Khan","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Reza","family":"Toliat","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Becker","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haseeb","family":"Anwar","sequence":"additional","affiliation":[{"name":"Department of Physiology Government College University  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"},{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Fischer","sequence":"additional","affiliation":[{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Jameel","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Sher","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Tariq","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naveed Altaf","family":"Malik","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika A.","family":"Noegel","sequence":"additional","affiliation":[{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Jawad","family":"Hassan","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences National University of Medical Sciences  Rawalpindi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[{"name":"Zentrum Medizinische Genetik Medizinische Universit\u00e4t  Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludwig","family":"Eichinger","sequence":"additional","affiliation":[{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"H\u00f6ning","sequence":"additional","affiliation":[{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahid Mahmood","family":"Baig","sequence":"additional","affiliation":[{"name":"Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7228-428X","authenticated-orcid":false,"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1353-8809","authenticated-orcid":false,"given":"Muhammad Sajid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Biochemistry, Medical Faculty University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0452-x"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37299"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.204"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.9.3535-3542.2005"}],"updated-by":[{"DOI":"10.1111\/cge.14092","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000}}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14028","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14028","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:36:49Z","timestamp":1693337809000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,16]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1111\/cge.14028"],"URL":"https:\/\/doi.org\/10.1111\/cge.14028","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14028\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14028\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14028\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14028\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14028\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,16]]},"assertion":[{"value":"2021-05-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}