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Causal Genetic Variants in Stillbirth
Author(s) -
Kate E. Stanley,
Jessica L. Giordano,
Vanessa Thorsten,
Christie M. Buchovecky,
Amanda ThomasWilson,
Mythily Ganapathi,
Jun Liao,
Avinash V. Dharmadhikari,
Anya RevahPoliti,
Michelle Ernst,
Natalie Lippa,
Halie Holmes,
Gundula Povysil,
Joseph Hostyk,
Corette B. Parker,
Robert L. Goldenberg,
George R. Saade,
Donald J. Dudley,
Halit Pınar,
Carol J. Hogue,
Uma M. Reddy,
Robert M. Silver,
Vimla S. Aggarwal,
Andrew S. Allen,
Ronald J. Wapner,
David B. Goldstein
Publication year - 2020
Publication title -
new england journal of medicine
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1908753
Subject(s) - exome sequencing , genetics , biology , computational biology , mutation , gene
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.

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