PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Author:

Khalil Raida12,Kenny Connor34,Hill R. Sean34,Mochida Ganeshwaran H.3456,Nasir Ramzi7,Partlow Jennifer N.348,Barry Brenda J.348,Al-Saffar Muna349,Egan Chloe34,Stevens Christine R.10,Gabriel Stacey B.10,Barkovich A. James11,Ellison Jay W.12,Al-Gazali Lihadh9ORCID,Walsh Christopher A.3458ORCID,Chahrour Maria H.11314ORCID

Affiliation:

1. Eugene McDermott Center for Human Growth and Development; University of Texas Southwestern Medical Center; Dallas Texas

2. Department of Biotechnology and Genetic Engineering; University of Philadelphia; Amman Jordan

3. Division of Genetics and Genomics, Department of Pediatrics; Boston Children's Hospital; Boston Massachusetts

4. Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts

5. Department of Pediatrics; Harvard Medical School; Boston Massachusetts

6. Department of Neurology; Massachusetts General Hospital; Boston Massachusetts

7. Royal Free London NHS Foundation Trust; London United Kingdom

8. Howard Hughes Medical Institute; Boston Children's Hospital; Boston Massachusetts

9. Department of Paediatrics; College of Medicine and Health Sciences, United Arab Emirates University; Al Ain United Arab Emirates

10. Program in Medical and Population Genetics; Broad Institute of Massachusetts Institute of Technology and Harvard University; Cambridge Massachusetts

11. Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery; University of California San Francisco; San Francisco California

12. The Permanente Medical Group; San Francisco California

13. Department of Neuroscience; University of Texas Southwestern Medical Center; Dallas Texas

14. Department of Psychiatry; University of Texas Southwestern Medical Center; Dallas Texas

Funder

Allen Discovery Center program

Brain and Behavior Research Foundation

National Institute of Mental Health

University of Texas Southwestern Medical Center

Howard Hughes Medical Institute

Manton Center for Orphan Disease Research, Boston Children's Hospital

Fulbright Scholar program

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

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