Exome and <scp>RNA‐Seq</scp> analyses of an incomplete penetrance variant in <scp> <i>USP9X</i> </scp> in female‐specific syndromic intellectual disability-Reference-Cited by-同舟云学术

Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability

Published:2022-03-07 Issue:6 Volume:188 Page:1808-1814
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Li Dong¹^ORCID,March Michael E.¹,Wang Tiancheng¹,Merengwa Victoria¹,Sertori Finoti Livia¹,Schrier Vergano Samantha A.²³^ORCID,Hakonarson Hakon¹⁴,Bhoj Elizabeth J.¹⁴^ORCID

Affiliation:

1. Center for Applied Genomics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia USA

3. Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia USA

4. Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62715

Reference25 articles.

1. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

2. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

3. Prevalence and architecture of de novo mutations in developmental disorders

4. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

5. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

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