Rare SUZ12 variants commonly cause an overgrowth phenotype-Reference-Cited by-同舟云学术

Rare SUZ12 variants commonly cause an overgrowth phenotype

Published:2019-11-17 Issue:4 Volume:181 Page:532-547
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Cyrus Sharri S.¹²^ORCID,Cohen Ana S. A.¹²,Agbahovbe Ruky¹²,Avela Kristiina³,Yeung Kit S.⁴,Chung Brian H. Y.⁴,Luk Ho‐Ming⁵,Tkachenko Nataliya⁶,Choufani Sanaa⁷,Weksberg Rosanna⁷⁸⁹^ORCID,Lopez‐Rangel Elena¹⁰,Brown Kathleen¹¹,Saenz Margarita S.¹¹,Svihovec Shayna¹¹,McCandless Shawn E.¹¹,Bird Lynne M.¹²¹³,Garcia Aixa Gonzalez¹⁴,Gambello Michael J.¹⁴,McWalter Kirsty¹⁵,Schnur Rhonda E.¹⁵,An Jianghong¹⁶¹⁷,Jones Steven J. M.¹¹⁶¹⁷¹⁸,Bhalla Sanjiv K.¹⁹²⁰,Pinz Hailey²¹,Braddock Stephen R.²¹,Gibson William T.¹²^ORCID,

Affiliation:

1. Department of Medical GeneticsUniversity of British Columbia Vancouver British Columbia Canada

2. British Columbia Children's Hospital Research Institute Vancouver British Columbia Canada

3. Department of Clinical GeneticsHelsinki University Hospital, HUSLAB Helsinki Finland

4. Department of Paediatrics and Adolescent MedicineThe University of Hong Kong Hong Kong Hong Kong

5. Clinical Genetic ServiceDepartment of Health Hong Kong Hong Kong

6. Medical Genetics ServiceMedical Genetics Center Dr. Jacinto de Magalhães, Porto Hospital Center Porto Portugal

7. Program in Genetics and Genome BiologyThe Hospital for Sick Children Toronto Ontario Canada

8. Division of Clinical and Metabolic GeneticsThe Hospital for Sick Children Toronto Ontario Canada

9. Department of Pediatrics and Institute of Medical ScienceUniversity of Toronto Toronto Ontario Canada

10. Department of Medical GeneticsBritish Columbia Children's Hospital Vancouver British Columbia Canada

11. Section of Genetics and Metabolism, Department of PediatricsThe Children's Hospital Colorado, University of Colorado Anschutz Medical Campus Aurora Colorado

12. Department of PediatricsUniversity of California San Diego California

13. Genetics/DysmorphologyRady Children's Hospital San Diego San Diego California

14. Department of Human GeneticsEmory University School of Medicine Atlanta Georgia

15. Clinical GenomicsGeneDx Gaithersburg Maryland

16. Canada's Michael Smith Genome Sciences Centre Vancouver British Columbia Canada

17. British Columbia Cancer Agency Vancouver British Columbia Canada

18. Department of Molecular Biology & BiochemistrySimon Fraser University Burnaby British Columbia Canada

19. Department of RadiologyUniversity of British Columbia Vancouver British Columbia Canada

20. Diagnostic and Medical Imaging ServicesSurrey Memorial Hospital Surrey British Columbia Canada

21. Division of Medical Genetics, Department of PediatricsSaint Louis University School of Medicine Saint Louis Missouri

Funder

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31748

Reference47 articles.

1. Weaver syndrome and defective cortical development: A rare association

2. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

3. The Protein Data Bank

4. Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms

5. SUZ12 Is Required for Both the Histone Methyltransferase Activity and the Silencing Function of the EED-EZH2 Complex

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