Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel...
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
About this item
Full title
Author / Creator
Godler, David E. , Ling, Ling , Gamage, Dinusha , Baker, Emma K. , Bui, Minh , Field, Michael J. , Rogers, Carolyn , Butler, Merlin G. , Murgia, Alessandra , Leonardi, Emanuela , Polli, Roberta , Schwartz, Charles E. , Skinner, Cindy D. , Alliende, Angelica M. , Santa Maria, Lorena , Pitt, James , Greaves, Ronda , Francis, David , Oertel, Ralph , Wang, Min , Simons, Cas and Amor, David J.
Publisher
United States: American Medical Association
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Medical Association
Subjects
More information
Scope and Contents
Contents
Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup15q) may lead to benefit from early diagnosis and treatment.
To examine the feasibility of newborn screening for these chromosome 15 imprinting disorders at population scale.
In this diagnostic study, the validation data set f...
Alternative Titles
Full title
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
Authors, Artists and Contributors
Author / Creator
Ling, Ling
Gamage, Dinusha
Baker, Emma K.
Bui, Minh
Field, Michael J.
Rogers, Carolyn
Butler, Merlin G.
Murgia, Alessandra
Leonardi, Emanuela
Polli, Roberta
Schwartz, Charles E.
Skinner, Cindy D.
Alliende, Angelica M.
Santa Maria, Lorena
Pitt, James
Greaves, Ronda
Francis, David
Oertel, Ralph
Wang, Min
Simons, Cas
Amor, David J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8728620
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8728620
Other Identifiers
ISSN
2574-3805
E-ISSN
2574-3805
DOI
10.1001/jamanetworkopen.2021.41911
