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Author Correction: 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. Among authors: schreiber aw. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
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. Among authors: schreiber aw. 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.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P, Garland J, Byrne AB, Hardy TSE, Babic M, Feng J, Wang P, Ha T, King-Smith SL, Schreiber AW, Crawford A, Manton N, Moore L, Barnett CP, Scott HS. Arts P, et al. Among authors: schreiber aw. Am J Med Genet A. 2020 May;182(5):1273-1277. doi: 10.1002/ajmg.a.61541. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141698 Free PMC article.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS. Byrne AB, et al. Among authors: schreiber aw. J Med Genet. 2020 Jul;57(7):454-460. doi: 10.1136/jmedgenet-2019-106700. Epub 2020 Jan 27. J Med Genet. 2020. PMID: 31988067 Free PMC article.
A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature.
Kazenwadel J, Venugopal P, Oszmiana A, Toubia J, Arriola-Martinez L, Panara V, Piltz SG, Brown C, Ma W, Schreiber AW, Koltowska K, Taoudi S, Thomas PQ, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: schreiber aw. Nature. 2023 Feb;614(7947):343-348. doi: 10.1038/s41586-022-05650-9. Epub 2023 Jan 25. Nature. 2023. PMID: 36697821
The Genomic Landscape of Sporadic Prolactinomas.
De Sousa SMC, Wang PPS, Santoreneos S, Shen A, Yates CJ, Babic M, Eshraghi L, Feng J, Koszyca B, Roberts-Thomson S, Schreiber AW, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: schreiber aw. Endocr Pathol. 2019 Dec;30(4):318-328. doi: 10.1007/s12022-019-09587-0. Endocr Pathol. 2019. PMID: 31473917
64 results