Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain
Shepherdson, James L, Granas, David M, Li, Jie, Shariff, Zara, Plassmeyer, Stephen P, Holehouse, Alex S, White, Michael A, Cohen, Barak A
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Published in Genome research (01.10.2024)
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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
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Published in Bone (New York, N.Y.) (01.01.2021)
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Pathogenic variants in CRX have distinct cis -regulatory effects on enhancers and silencers in photoreceptors
Shepherdson, James L, Friedman, Ryan Z, Zheng, Yiqiao, Sun, Chi, Oh, Inez Y, Granas, David M, Cohen, Barak A, Chen, Shiming, White, Michael A
Published in Genome research (01.02.2024)
Published in Genome research (01.02.2024)
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
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Published in American journal of human genetics (07.03.2024)
Published in American journal of human genetics (07.03.2024)
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Journal Article
Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain
Shepherdson, James L, Granas, David M, Li, Jie, Shariff, Zara, Plassmeyer, Stephen P, Holehouse, Alex S, White, Michael A, Cohen, Barak A
Published in bioRxiv (27.03.2024)
Published in bioRxiv (27.03.2024)
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Journal Article
Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptors
Shepherdson, James L, Friedman, Ryan Z, Zheng, Yiqiao, Sun, Chi, Oh, Inez Y, Granas, David M, Cohen, Barak A, Chen, Shiming, White, Michael A
Published in bioRxiv (02.12.2023)
Published in bioRxiv (02.12.2023)
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