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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.
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.
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.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: scherer sw. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 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.
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.
Mitina A, Khan M, Lesurf R, Yin Y, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I, Guo K, Pallotto LM, Lam Doong PH, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T, Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S, Yuen RKC. Mitina A, et al. Among authors: scherer sw. EBioMedicine. 2024 Mar;101:105027. doi: 10.1016/j.ebiom.2024.105027. Epub 2024 Feb 27. EBioMedicine. 2024. PMID: 38418263 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.
655 results