Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
About this item
Full title
Author / Creator
Byrne, Alicia B. , Arts, Peer , Ha, Thuong T. , Kassahn, Karin S. , Pais, Lynn S. , O’Donnell-Luria, Anne , Babic, Milena , Frank, Mahalia S. B. , Feng, Jinghua , Wang, Paul , Lawrence, David M. , Eshraghi, Leila , Arriola, Luis , Toubia, John , Nguyen, Hung , McGillivray, George , Pinner, Jason , McKenzie, Fiona , Morrow, Rebecca , Lipsett, Jill , Manton, Nick , Khong, T. Yee , Moore, Lynette , Liebelt, Jan E. , Schreiber, Andreas W. , King-Smith, Sarah L. , Hardy, Tristan S. E. , Jackson, Matilda R. , Barnett, Christopher P. , Scott, Hamish S. , Broad Institute Center for Mendelian Genomics and Genomic Autopsy Study Research Network
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known ge...
Alternative Titles
Full title
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Authors, Artists and Contributors
Author / Creator
Arts, Peer
Ha, Thuong T.
Kassahn, Karin S.
Pais, Lynn S.
O’Donnell-Luria, Anne
Babic, Milena
Frank, Mahalia S. B.
Feng, Jinghua
Wang, Paul
Lawrence, David M.
Eshraghi, Leila
Arriola, Luis
Toubia, John
Nguyen, Hung
McGillivray, George
Pinner, Jason
McKenzie, Fiona
Morrow, Rebecca
Lipsett, Jill
Manton, Nick
Khong, T. Yee
Moore, Lynette
Liebelt, Jan E.
Schreiber, Andreas W.
King-Smith, Sarah L.
Hardy, Tristan S. E.
Jackson, Matilda R.
Barnett, Christopher P.
Scott, Hamish S.
Broad Institute Center for Mendelian Genomics
Genomic Autopsy Study Research Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10333122
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10333122
Other Identifiers
ISSN
1078-8956
E-ISSN
1546-170X
DOI
10.1038/s41591-022-02142-1
