Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease-Reference-Cited by-同舟云学术

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

Published:2019-05-01 Issue:8 Volume:104 Page:3049-3067
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Jolly Angad¹,Bayram Yavuz¹,Turan Serap²,Aycan Zehra³,Tos Tulay⁴,Abali Zehra Yavas⁵,Hacihamdioglu Bulent⁶,Coban Akdemir Zeynep Hande¹,Hijazi Hadia¹,Bas Serpil²,Atay Zeynep²,Guran Tulay²,Abali Saygin²,Bas Firdevs⁵,Darendeliler Feyza⁵,Colombo Roberto⁷⁸,Barakat Tahsin Stefan⁹,Rinne Tuula¹⁰,White Janson J¹,Yesil Gozde¹¹,Gezdirici Alper¹²,Gulec Elif Yilmaz¹²,Karaca Ender¹³,Pehlivan Davut¹¹⁴,Jhangiani Shalini N¹⁵,Muzny Donna M¹⁵,Poyrazoglu Sukran⁵,Bereket Abdullah²,Gibbs Richard A¹¹⁵,Posey Jennifer E¹^ORCID,Lupski James R¹¹⁵¹⁶¹⁷

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

2. Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey

3. Department of Pediatric Endocrinology, Sami Ulus Children’s Hospital, Ankara, Turkey

4. Department of Medical Genetics, Sami Ulus Children’s Hospital, Ankara, Turkey

5. Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

6. Department of Pediatric Endocrinology, Istinye University, Istanbul, Turkey

7. Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy

8. Faculty of Medicine, Catholic University, IRCCS Policlinico Gemelli University Hospital, Rome, Italy

9. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

10. Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands

11. Department of Medical Genetics, Bezmialem University, Istanbul, Turkey

12. Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey

13. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama

14. Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas

15. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas

16. Department of Pediatrics, Baylor College of Medicine, Houston, Texas

17. Texas Children’s Hospital, Houston, Texas

Funder

National Heart, Lung, and Blood Institute

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Howard Hughes Medical Institute

American Academy of Neurology (US), American Brain Foundation (US), and Muscle Study Group

Netherlands Organization for Scientific Research

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/advance-article-pdf/doi/10.1210/jc.2019-00248/28544623/jc.2019-00248.pdf

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