Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Author:

Cheng Hanyin1,Gottlieb Leah23,Marchi Elaine4,Kleyner Robert5,Bhardwaj Puja5,Rope Alan F67,Rosenheck Sarah5,Moutton Sébastien89,Philippe Christophe910,Eyaid Wafaa11,Alkuraya Fowzan S1213,Toribio Janet14,Mena Rafael1516,Prada Carlos E1718,Stessman Holly19,Bernier Raphael20,Wermuth Marieke21,Kauffmann Birgit21,Blaumeiser Bettina22,Kooy R Frank23,Baralle Diana2425,Mancini Grazia M S26,Conway Simon J27,Xia Fan128,Chen Zhao128,Meng Linyan128,Mihajlovic Ljubisa29,Marmorstein Ronen2330,Lyon Gholson J45

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

2. Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA

3. Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

4. Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA

5. Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA

6. Kaiser Permanente Center for Health Research, Portland, OR 97227, USA

7. Genome Medical, South San Francisco, CA 94080, USA

8. Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France

9. Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France

10. Laboratoire de Génétique, Innovation Diagnostic Génomique des Maladies Rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire, Dijon 21070, France

11. King Abdulaziz Medical City, King Saud Bin AbdulAziz University—Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia

12. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia

13. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

14. Division of Cardiology, CEDIMAT, Santo Domingo 51000, Dominican Republic

15. Neonatal Intensive Care Unit, Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic

16. Division Of Neonatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

17. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

18. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA

19. Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA

20. Department of Psychiatry, University of Washington, Seattle, WA 98195, USA

21. Klinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany

22. University and University Hospital of Antwerp, Antwerp, Belgium

23. Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium

24. Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK

25. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK

26. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 GD, The Netherlands

27. HB Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

28. Baylor Genetics, Houston, TX 77021, USA

29. GeneInfo, Human Genetics, 18000 Niš, Serbia

30. Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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