Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333122/
https://www.ncbi.nlm.nih.gov/pubmed/36658419
http://dx.doi.org/10.1038/s41591-022-02142-1

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