Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

Author:

Behar Doron M.123ORCID,Inbar Ori4,Shteinberg Michal25,Gur Michal26,Mussaffi Huda78,Shoseyov David9,Ashkenazi Moshe10,Alkrinawi Soliman11,Bormans Concetta3,Hakim Fahed26,Mei-Zahav Meir78,Cohen-Cymberknoh Malena9,Dagan Adi10,Prais Dario78,Sarouk Ifat10,Stafler Patrick78,Bar Aluma Bat El10,Akler Gidon3,Picard Elie12,Aviram Micha11,Efrati Ori10,Livnat Galit25,Rivlin Joseph25,Bentur Lea26,Blau Hannah78,Kerem Eitan9,Singer Amihood13

Affiliation:

1. Clalit National Personalized Medicine Program; Department of Community Medicine and Epidemiology; Carmel Medical Center; Haifa Israel

2. Bruce Rappaport Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel

3. Gene by Gene; Genomic Research Center; Houston Texas

4. The Cystic Fibrosis Foundation of Israel; Ramat Gan Israel

5. Pulmonology Institute and CF Center; Carmel Medical Center; Haifa Israel

6. Pediatric Pulmonary Institute and CF Center; Rappaport Children's Hospital; Rambam Health Care Campus Haifa Israel

7. Kathy and Lee Graub Cystic Fibrosis Center; Schneider Children's Medical Center of Israel; Petach Tikva Israel

8. Sackler Faculty of Medicine; Tel Aviv University; Ramat Aviv Israel

9. Cystic Fibrosis Center; Hadassah-Hebrew University Medical Center; Jerusalem Israel

10. Cystic Fibrosis Center; Sheba Medical Center; Ramat Gan Israel

11. Cystic Fibrosis Center; Soroka Medical Center; Beersheva Israel

12. Cystic Fibrosis Center; Shaare Zedek Medical Center; Hebrew University Medical Center; Jerusalem Israel

13. Medical Genetics; Barzilai Medical Center; Ashkelon Israel

Funder

Medison Pharma Corporation

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference62 articles.

1. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population;Abeliovich;Am. J. Hum. Genet.,1992

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

3. ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis;American College of Obstetricians and Gynecologists Committee on Genetics;Obstet. Gynecol.,2011

4. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study;Baker;Genet. Med.,2015

5. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia;Banjar;Ann. Trop. Paediatr.,1999

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