Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns-Reference-Cited by-同舟云学术

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

Published:2022-01 Issue:1 Volume:3 Page:100059
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Gold Nina B.,Harrison Steven M.,Rowe Jared H.,Gold Jessica,Furutani Elissa,Biffi Alessandra,Duncan Christine N.,Shimamura Akiko,Lehmann Leslie E.,Green Robert C.

Funder

National Institutes of Health

US Department of Defense

Greenwall Foundation

Broad Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference30 articles.

1. Bone marrow transplantation for inherited bone marrow failure syndromes;Mehta;Pediatr. Clin. North Am.,2010

2. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders;Boelens;Pediatr. Clin. North Am.,2010

3. Bone marrow transplantation for primary immunodeficiency diseases;Szabolcs;Pediatr. Clin. North Am.,2010

4. Hematopoietic stem cell transplantation for infantile osteopetrosis;Orchard;Blood,2015

5. Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells;Hoban;Blood,2015

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