Article
Causal Genetic Variants in Stillbirth.
The New England journal of medicine - 17 Sept 2020
Stanley Kate E, Giordano Jessica, Thorsten Vanessa, Buchovecky Christie, Thomas Amanda, Ganapathi Mythily, Liao Jun, Dharmadhikari Avinash V, Revah-Politi Anya, Ernst Michelle, Lippa Natalie, Holmes Halie, Povysil Gundula, Hostyk Joseph, Parker Corette B, Goldenberg Robert, Saade George R, Dudley Donald J, Pinar Halit, Hogue Carol, Reddy Uma M, Silver Robert M, Aggarwal Vimla, Allen Andrew S, Wapner Ronald J, Goldstein David B
Abstract excerpt
BACKGROUND: In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However, the causal nature of single-nucleotide variants and small insertions and deletions in exomes has been understudied. METHODS: We generated exome sequencing data for 246 stillborn cases and...
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