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Comment
. 2023 Jan;29(1):41-42.
doi: 10.1038/s41591-022-02143-0.

Genomic autopsy offers answers for pregnancy loss and perinatal death

No authors listed
Comment

Genomic autopsy offers answers for pregnancy loss and perinatal death

No authors listed. Nat Med. 2023 Jan.
No abstract available

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Comment on

  • Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
    Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.

References

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    1. Byrne, A. B. et al. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci. Transl. Med. 14, eabm4869 (2022). This paper reports a patient series and animal model. - DOI
    1. Tan, N. B. et al. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J. Med. Genet. 59, 511–516 (2021). Data sharing mutations in GNB2 that cause genetic disorder. - DOI
    1. Rehm, H. L. et al. ClinGen - the clinical genome resource. N. Engl. J. Med. 372, 2235–2242 (2015). Milestone article for standardization of genetic interpretation. - DOI

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