A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome-Reference-Cited by-同舟云学术

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome

Published:2020-07-11 Issue:9 Volume:182 Page:2145-2151
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Curtis Meredith¹^ORCID,Baribeau Danielle²,Walker Susan³,Carter Melissa⁴,Costain Gregory¹⁵,Lamoureux Sylvia³,Liston Eriskay⁵,Marshall Christian R.¹⁶⁷,Reuter Miriam S.³⁸⁹,Snell Meaghan¹,Summers Jane²,Vorstman Jacob²,Jobling Rebekah K.¹⁵⁶

Affiliation:

1. Centre for Genetic MedicineThe Hospital for Sick Children Toronto Ontario Canada

2. Department of PsychiatryThe Hospital for Sick Children Toronto Ontario Canada

3. The Centre for Applied GenomicsThe Hospital for Sick Children Toronto Ontario Canada

4. Regional Genetics ProgramThe Children's Hospital of Eastern Ontario Ottawa Ontario Canada

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

6. Genome Diagnostics, Department of Paediatric Laboratory MedicineThe Hospital for Sick Children Toronto Ontario Canada

7. Laboratory Medicine and PathobiologyUniversity of Toronto Toronto Ontario Canada

8. CGEn, The Hospital for Sick Children Toronto Ontario Canada

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

Funder

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61740

Reference33 articles.

1. “Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families

2. Angelman syndrome.

3. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report;Biomedical Reports;2022-04-19

2. The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report;Annals of Medicine and Surgery;2022-01

3. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges;American Journal of Medical Genetics Part A;2021-06-22