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Research

CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain" > Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

  • First Published September 25, 2024
Research

CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors" > Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

  • First Published February 14, 2024
Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

  • First Published June 6, 2022
Resource

Long-read RNA sequencing reveals widespread sex-specific alternative splicing in threespine stickleback fish

  • First Published June 15, 2021
Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

  • First Published December 1, 2017
Research

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • First Published June 8, 2017
Method

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • First Published March 14, 2016
Research

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

  • First Published October 20, 2015
Resource

Annotation of functional variation in personal genomes using RegulomeDB

  • First Published September 5, 2012
Resource

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

  • First Published September 5, 2012
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