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Improving imputation in disease-relevant regions: lessons from cystic fibrosis.
Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ. Panjwani N, et al. Among authors: scherer sw. NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018. NPJ Genom Med. 2018. PMID: 29581887 Free PMC article.
Genomic medicine goes mainstream.
Scherer SW. Scherer SW. NPJ Genom Med. 2016 Jan 13;1:15001. doi: 10.1038/npjgenmed.2015.1. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263800 Free PMC article. No abstract available.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Ding Q, Somerville C, Manshaei R, Trost B, Reuter MS, Kalbfleisch K, Stanley K, Okello JBA, Hosseini SM, Liston E, Curtis M, Zarrei M, Higginbotham EJ, Chan AJS, Engchuan W, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. Ding Q, et al. Among authors: scherer sw. Hum Genet. 2023 Feb;142(2):201-216. doi: 10.1007/s00439-022-02494-1. Epub 2022 Nov 14. Hum Genet. 2023. PMID: 36376761 Free PMC article.
Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data.
Bertholim-Nasciben L, Scliar MO, Debortoli G, Thiruvahindrapuram B, Scherer SW, Duarte YAO, Zatz M, Suarez-Kurtz G, Parra EJ, Naslavsky MS. Bertholim-Nasciben L, et al. Among authors: scherer sw. Front Pharmacol. 2023 May 10;14:1178715. doi: 10.3389/fphar.2023.1178715. eCollection 2023. Front Pharmacol. 2023. PMID: 37234706 Free PMC article.
Contemplating syndromic autism.
Vorstman JAS, Scherer SW. Vorstman JAS, et al. Among authors: scherer sw. Genet Med. 2023 Oct;25(10):100919. doi: 10.1016/j.gim.2023.100919. Epub 2023 Jun 15. Genet Med. 2023. PMID: 37330697 No abstract available.
Epigenomic profiling reveals an association between persistence of DNA methylation and metabolic memory in the DCCT/EDIC type 1 diabetes cohort.
Chen Z, Miao F, Paterson AD, Lachin JM, Zhang L, Schones DE, Wu X, Wang J, Tompkins JD, Genuth S, Braffett BH, Riggs AD; DCCT/EDIC Research Group; Natarajan R. Chen Z, et al. Proc Natl Acad Sci U S A. 2016 May 24;113(21):E3002-11. doi: 10.1073/pnas.1603712113. Epub 2016 May 9. Proc Natl Acad Sci U S A. 2016. PMID: 27162351 Free PMC article. Clinical Trial.
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Shum C, Han SY, Thiruvahindrapuram B, Wang Z, de Rijke J, Zhang B, Sundberg M, Chen C, Buttermore ED, Makhortova N, Howe J, Sahin M, Scherer SW. Shum C, et al. Among authors: scherer sw. Comput Struct Biotechnol J. 2023 Dec 29;23:638-647. doi: 10.1016/j.csbj.2023.12.036. eCollection 2024 Dec. Comput Struct Biotechnol J. 2023. PMID: 38283851 Free PMC article.
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Mušálková D, Přistoupilová A, Jedličková I, Hartmannová H, Trešlová H, Nosková L, Hodaňová K, Bittmanová P, Stránecký V, Jiřička V, Langmajerová M, Woodbury-Smith M, Zarrei M, Trost B, Scherer SW, Bleyer AJ, Vevera J, Kmoch S. Mušálková D, et al. Among authors: scherer sw. Genes Brain Behav. 2024 Feb;23(1):e12882. doi: 10.1111/gbb.12882. Genes Brain Behav. 2024. PMID: 38359179 Free PMC article.
655 results