Concepedia

Publication | Open Access

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

DOIFull Paper Access

33

Citations

18

References

2022

Year

David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi,
JAMA Network Open

Abstract

The findings of this diagnostic study suggest that it is feasible to screen for all chromosome 15 imprinting disorders using SNRPN methylation analysis, with 5 individuals identified with these disorders out of 16 579 infants screened.

References

YearCitations

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