Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing-Reference-Cited by-同舟云学术

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Published:2020-06-23 Issue:8 Volume:182 Page:1906-1912
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Schmidt Johanna L.¹^ORCID,Pizzino Amy¹^ORCID,Nicholl Jessica²,Foley Allison³,Wang Yue⁴,Rosenfeld Jill A.⁴,Mighion Lindsey⁵,Bean Lora⁵^ORCID,Silva Cristina⁵,Cho Megan T.⁶,Truty Rebecca⁷,Garcia John⁷,Speare Virginia⁸,Blanco Kirsten⁸,Powis Zoe⁸,Hobson Grace M.⁹,Kirwin Susan⁹,Krock Bryan¹⁰,Lee Hane¹¹¹²,Deignan Joshua L.¹¹,Westemeyer Maggie A.¹³,Subaran Ryan L.¹⁴,Thiffault Isabelle¹⁵^ORCID,Tsai Ellen A.¹⁶,Fang Terry¹⁶,Helman Guy¹⁷¹⁸^ORCID,Vanderver Adeline¹¹⁹^ORCID

Affiliation:

1. Department of NeurologyChildren's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Lurie Children's Hospital Chicago Illinois USA

3. Department of Human GeneticsEmory University School of Medicine Atlanta Georgia USA

4. Department of Molecular & Human GeneticsBaylor College of Medicine, and Baylor Genetics Laboratories Houston Texas USA

5. EGL Genetics Tucker Georgia USA

6. GeneDx Gaithersburg Maryland USA

7. Invitae San Francisco California USA

8. Ambry Genetics Aliso Viejo California USA

9. Nemours/Alfred I duPont Hospital for Children Wilmington Delaware USA

10. Division of Genomic Diagnostics, Department of Pathology and Laboratory MedicineThe Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

11. Department of Pathology and Laboratory MedicineUniversity of California Los Angeles Los Angeles California USA

12. Department of Human GeneticsUniversity of California Los Angeles Los Angeles California USA

13. Natera Inc. San Carlos California USA

14. CooperGenomics Livingston New Jersey USA

15. Department of Pathology and Laboratory MedicineChildren's Mercy Hospital, University of Missouri‐Kansas City School of Medicine Kansas City Missouri USA

16. Biogen Cambridge Massachusetts USA

17. Murdoch Children' Research InstituteThe Royal Children's Hospital Parkville Australia

18. Institute for Molecular BioscienceUniversity of Queensland Brisbane Australia

19. Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania USA

Funder

Children's Hospital of Philadelphia and the Jacob A Kamens endowed chair

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61641