Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome)-Reference-Cited by-同舟云学术

Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome)

Published:2019-11-29 Issue:1 Volume:182 Page:38-52
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Assia Batzir Nurit¹²^ORCID,Posey Jennifer E.¹^ORCID,Song Xiaofei¹,Akdemir Zeynep Coban¹,Rosenfeld Jill A.¹,Brown Chester W.³⁴,Chen Emily⁵,Holtrop Shannon G.³,Mizerik Elizabeth¹²,Nieto Moreno Margarita⁶⁷,Payne Katelyn⁸,Raas‐Rothschild Annick⁹¹⁰,Scott Richard¹¹,Vernon Hilary J.¹²^ORCID,Zadeh Neda¹³¹⁴,Lupski James R.¹²¹⁵¹⁶,Sutton V. Reid¹²,

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

2. Texas Children's Hospital Houston Texas

3. Le Bonheur Children's Hospital Memphis Tennessee

4. Division of Medical Genetics, Department of Pediatrics University of Tennessee Health Science Center Memphis Tennessee

5. Department of Genetics Kaiser Permanente San Francisco California

6. Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami Miami Florida

7. Jackson Memorial Hospital Miami Florida

8. Section of Child Neurology, Department of Neurology Indiana University School of Medicine Indianapolis Indiana

9. Institute of Rare Diseases & Danek Gertner Institute of Human Genetics Sheba Medical Center Tel‐Hashomer Israel

10. The Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

11. Clinical Genetics Unit Great Ormond Street Hospital for Children NHS Trust London UK

12. Division of Neurogenetics, Department of Neurology Kennedy Krieger Institute and Johns Hopkins University School of Medicine Baltimore Maryland

13. Genetics Center Orange California

14. Division of Medical Genetics Children's Hospital of Orange County Orange California

15. Department of Pediatrics Baylor College of Medicine Houston Texas

16. Human Genome Sequencing Center Baylor College of Medicine Houston Texas

Funder

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61380

Reference35 articles.

1. Malrotation and intestinal atresias

2. Pediatric sleep questionnaire (PSQ): validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems

3. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

4. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

5. Large-scale discovery of novel genetic causes of developmental disorders

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