De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Author:

Slavotinek Anne12,Risolino Maurizio23,Losa Marta23,Cho Megan T4,Monaghan Kristin G4,Schneidman-Duhovny Dina56,Parisotto Sarah7,Herkert Johanna C8,Stegmann Alexander P A910,Miller Kathryn11,Shur Natasha11,Chui Jacqueline12,Muller Eric12,DeBrosse Suzanne13,Szot Justin O1415,Chapman Gavin1415,Pachter Nicholas S1617,Winlaw David S1819,Mendelsohn Bryce A12,Dalton Joline20,Sarafoglou Kyriakie21,Karachunski Peter I22,Lewis Jane M23,Pedro Helio7,Dunwoodie Sally L1415,Selleri Licia23,Shieh Joseph12

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA

2. Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA

3. Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA

4. GeneDx, Gaithersburg, MD, USA

5. School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel

6. Department of Biochemistry, Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel

7. Division of Genetics, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ, USA

8. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

9. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

10. Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands

11. Department of Pediatrics, Albany Medical Center, Albany, NY, USA

12. Clinical Genetics, Stanford Children’s Health at CPMC, San Francisco, CA, USA

13. Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA

14. Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia

15. University of New South Wales, Sydney, NSW, Australia

16. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia

17. School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia

18. University of Sydney, Medical School, Sydney, NSW, Australia

19. Heart Centre for Children, Children's Hospital at Westmead, Sydney, NSW, Australia

20. Paul and Shelia Wellstone Muscular Dystrophy Center, University of Minnesota, Minneapolis, MN, USA

21. Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA

22. Department of Neurology, University of Minnesota, Minneapolis, MN, USA

23. Department of Urology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA

Funder

Medical Research Council

Publisher

Oxford University Press (OUP)

Subject

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

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