Further evidence thatde novomissense and truncating variants inZBTB18cause intellectual disability with variable features

Author:

Cohen J.S.1,Srivastava S.123,Farwell Hagman K.D.4,Shinde D.N.4,Huether R.5,Darcy D.6,Wallerstein R.7,Houge G.89,Berland S.89,Monaghan K.G.10,Poretti A.11,Wilson A.L.12,Chung W.K.1314,Fatemi A.123

Affiliation:

1. Division of Neurogenetics; Hugo W. Moser Research Institute, Kennedy Krieger Institute; Baltimore MD USA

2. Department of Neurology; The Johns Hopkins Hospital; Baltimore MD USA

3. Department of Pediatrics; The Johns Hopkins Hospital; Baltimore MD USA

4. Division of Clinical Genomics; Ambry Genetics; Aliso Viejo CA USA

5. Department of Bioinformatics; Ambry Genetics; Aliso Viejo CA USA

6. Silicon Valley Genetics Center, Santa Clara Valley Medical Center; San Jose CA USA

7. Hawaii Community Genetics; Kapiolani Medical Center for Women and Children; Honolulu HI USA

8. Center for Medical Genetics and Molecular Medicine; Haukeland University Hospital; Bergen Norway

9. Department of Medical Genetics; St. Olav Hospital; Trondheim Norway

10. GeneDx; Gaithersburg MD USA

11. Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science; The Johns Hopkins Hospital; Baltimore MD USA

12. Department of Clinical Genetics; New York Presbyterian Hospital; New York NY USA

13. Department of Pediatrics; Columbia University; New York NY USA

14. Department of Medicine; Columbia University; New York NY USA

Funder

Simons Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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