A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)-Reference-Cited by-同舟云学术

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

Published:2019-09-15 Issue:1 Volume:41 Page:140-149
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sharon Dror¹^ORCID,Ben‐Yosef Tamar²,Goldenberg‐Cohen Nitza²³⁴^ORCID,Pras Eran⁵⁶,Gradstein Libe⁷,Soudry Shiri²⁸,Mezer Eedy²⁸^ORCID,Zur Dinah⁶⁹,Abbasi Anan H.¹⁰¹¹,Zeitz Christina¹²^ORCID,Cremers Frans P. M.¹³¹⁴,Khan Muhammad I.¹³¹⁴,Levy Jaime¹,Rotenstreich Ygal⁶¹⁵,Birk Ohad S.¹⁶¹⁷^ORCID,Ehrenberg Miriam¹⁸^ORCID,Leibu Rina⁸,Newman Hadas⁶⁹,Shomron Noam⁶^ORCID,Banin Eyal¹,Perlman Ido²⁹

Affiliation:

1. Department of Ophthalmology, Hadassah Medical Center, Faculty of MedicineThe Hebrew University of JerusalemJerusalem Israel

2. Rappaport Faculty of MedicineTechnion‐Israel Institute of TechnologyHaifa Israel

3. Department of OphthalmologyBnai Zion Medical CenterHaifa Israel

4. The Krieger Eye Research Laboratory, Felsenstein Medical Research Center (FMRC) Petach Tikva Israel

5. Department of OphthalmologyAssaf‐Harofeh Medical CenterZerifin Israel

6. Sackler Faculty of MedicineTel Aviv UniversityTel Aviv Israel

7. Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health SciencesBen‐Gurion UniversityBeer Sheva Israel

8. Department of OphthalmologyRambam Healthcare CampusHaifa Israel

9. Ophthalmology DivisionTel Aviv Medical CenterTel Aviv Israel

10. Ziv Medical CenterSafed Israel

11. The Azrieli Faculty of MedicineBar Ilan UniversitySafed Israel

12. INSERM, CNRS, Institut de la VisionSorbonne UniversitéParis France

13. Department of Human GeneticsRadboud University Medical CenterNijmegen The Netherlands

14. Donders Institute for Brain, Cognition, and BehaviourRadboud University Medical CenterNijmegen The Netherlands

15. The Goldschleger Eye InstituteSheba Medical CenterTel‐Hashomer Israel

16. The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the NegevBen‐Gurion UniversityBeer Sheva Israel

17. Genetics Institute, Soroka Medical Center, Faculty of Health SciencesBen‐Gurion UniversityBeer Sheva Israel

18. Ophthalmology UnitSchneider Children's Medical Center in IsraelPetach Tikva Israel

Funder

Foundation Fighting Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23903

Reference60 articles.

1. Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews

2. A Common Founder Mutation ofCERKLUnderlies Autosomal Recessive Retinal Degeneration with Early Macular Involvement among Yemenite Jews

3. Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

4. Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

5. Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping

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