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Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.
bioRxiv [Preprint]. 2024 Mar 27:2024.03.21.585809. doi: 10.1101/2024.03.21.585809.
bioRxiv. 2024.
PMID: 38585983
Free PMC article.
Preprint.
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.
Update in:
Genome Res. 2024 Mar 20;34(2):243-255. doi: 10.1101/gr.278133.123.
PMID: 37292699
Free PMC article.
Updated.
Preprint.
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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.
Genome Res. 2024 Mar 20;34(2):243-255. doi: 10.1101/gr.278133.123.
Genome Res. 2024.
PMID: 38355306
Free PMC article.
Item in Clipboard
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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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
Free PMC article.
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Supporting Zoo Asian Elephant (Elephas maximus) Welfare and Herd Dynamics with a More Complex and Expanded Habitat.
Glaeser SS, Shepherdson D, Lewis K, Prado N, Brown JL, Lee B, Wielebnowski N.
Glaeser SS, et al.
Animals (Basel). 2021 Aug 31;11(9):2566. doi: 10.3390/ani11092566.
Animals (Basel). 2021.
PMID: 34573532
Free PMC article.
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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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