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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906502
Free article.
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life.
Kelada L, Wakefield C, Vidic N, Armstrong DS, Bennetts B, Boggs K, Christodoulou J, Harrison J, Ho G, Kapur N, Lindsey-Temple S, McDonald T, Mowat D, Schultz A, Selvadurai H, Tai A, Jaffe A.
Kelada L, et al.
BMJ Open Respir Res. 2022 Feb;9(1):e001139. doi: 10.1136/bmjresp-2021-001139.
BMJ Open Respir Res. 2022.
PMID: 35190460
Free PMC article.
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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.
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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.
Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1.
Nat Med. 2024.
PMID: 37429925
No abstract available.
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A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S, Edwards M, Rickassel V, Nauth T, Rosenberger G.
Lindsey-Temple S, et al.
Eur J Hum Genet. 2022 Sep;30(9):1088-1093. doi: 10.1038/s41431-022-01139-1. Epub 2022 Jun 29.
Eur J Hum Genet. 2022.
PMID: 35764878
Free PMC article.
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Regional differences in susceptibiity of bronchial epithelium to mesenchymal transition and inhibition by the macrolide antibiotic azithromycin.
Banerjee B, Musk M, Sutanto EN, Yerkovich ST, Hopkins P, Knight DA, Lindsey-Temple S, Stick SM, Kicic A, Chambers DC.
Banerjee B, et al.
PLoS One. 2012;7(12):e52309. doi: 10.1371/journal.pone.0052309. Epub 2012 Dec 21.
PLoS One. 2012.
PMID: 23284981
Free PMC article.
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