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In memoriam

Jim Watson (1928–2025): a genomics visionary

  • First Published July 23, 2026
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
Research

Functional characterization of enhancer activity during a long terminal repeat's evolution

  • First Published October 3, 2022
In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Research

Genomic environments scale the activities of diverse core promoters

  • First Published December 27, 2021
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • First Published August 23, 2018
Research

cis-regulatory activity" > Local sequence features that influence AP-1 cis-regulatory activity

  • First Published January 5, 2018
Research

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

  • First Published October 20, 2015
Research

High-throughput functional testing of ENCODE segmentation predictions

  • First Published July 17, 2014
Method

Massively parallel synthetic promoter assays reveal the in vivo effects of binding site variants

  • First Published August 6, 2013
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Research

TATA is a modular component of synthetic promoters

  • First Published July 13, 2010
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

Discovery, validation, and genetic dissection of transcription factor binding sites by comparative and functional genomics

  • First Published August 2, 2005
Methods

On the probability that a novel variant is a disease-causing mutation

  • First Published June 17, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
LETTER

The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection

  • First Published May 3, 2004
RESOURCE

Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans

  • First Published October 2, 2003
ARTICLE

Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program

  • First Published January 14, 2003
METHODS

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001
LETTER

Sequence Variation Within the Fragile X Locus

  • First Published August 1, 2001
COMMENTARY

The Human Genome Sequence Expedition: Views from the “Base Camp”

  • First Published May 1, 2001
ARTICLE

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

  • First Published September 1, 2000
LETTER

Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays

  • First Published June 1, 2000
ARTICLE

Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome" > The Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome

  • First Published March 1, 1999
INSIGHT/OUTLOOK

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation

  • First Published December 1, 1998
RESEARCH

Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

  • First Published February 1, 1998
EDITORIAL

The End of the Beginning: The Race to Begin Human Genome Sequencing

  • First Published September 1, 1996
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