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Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors.
Genome Res. 2024 Mar 20;34(2):243-255. doi: 10.1101/gr.278133.123.
Genome Res. 2024.
PMID: 38355306
Free PMC article.
Synthetic and genomic regulatory elements reveal aspects of cis-regulatory grammar in mouse embryonic stem cells.
King DM, Hong CKY, Shepherdson JL, Granas DM, Maricque BB, Cohen BA.
King DM, et al. Among authors: shepherdson jl.
Elife. 2020 Feb 11;9:e41279. doi: 10.7554/eLife.41279.
Elife. 2020.
PMID: 32043966
Free PMC article.
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Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptors.
Shepherdson JL, Friedman RZ, Zheng Y, Sun C, Oh IY, Granas DM, Cohen BA, Chen S, White MA.
Shepherdson JL, et al.
bioRxiv [Preprint]. 2023 Dec 2:2023.05.27.542576. doi: 10.1101/2023.05.27.542576.
bioRxiv. 2023.
PMID: 37292699
Free PMC article.
Updated.
Preprint.
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Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.
Shepherdson JL, Granas DM, Li J, Shariff Z, Plassmeyer SP, Holehouse AS, White MA, Cohen BA.
Shepherdson JL, et al.
bioRxiv [Preprint]. 2024 Mar 27:2024.03.21.585809. doi: 10.1101/2024.03.21.585809.
bioRxiv. 2024.
PMID: 38585983
Free PMC article.
Preprint.
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M.
Shepherdson JL, et al.
Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6.
Am J Hum Genet. 2024.
PMID: 38325380
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Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.
Shepherdson JL, Zheng H, Amarillo IE, McAlinden A, Shinawi M.
Shepherdson JL, et al.
Bone. 2021 Jan;142:115705. doi: 10.1016/j.bone.2020.115705. Epub 2020 Oct 22.
Bone. 2021.
PMID: 33141070
Free PMC article.
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In vivo functional analysis of non-conserved human lncRNAs associated with cardiometabolic traits.
Ruan X, Li P, Chen Y, Shi Y, Pirooznia M, Seifuddin F, Suemizu H, Ohnishi Y, Yoneda N, Nishiwaki M, Shepherdson J, Suresh A, Singh K, Ma Y, Jiang CF, Cao H.
Ruan X, et al.
Nat Commun. 2020 Jan 2;11(1):45. doi: 10.1038/s41467-019-13688-z.
Nat Commun. 2020.
PMID: 31896749
Free PMC article.
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