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Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • First Published January 3, 2014
Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  • First Published June 19, 2013
Resource

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

  • First Published May 28, 2013
Research

DNA methylation profiles of human active and inactive X chromosomes

  • First Published August 23, 2011
Research

Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration

  • First Published July 27, 2011
Method

Genome-wide identification of conserved regulatory function in diverged sequences

  • First Published May 31, 2011
Research

cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts" > Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

  • First Published December 8, 2010
Method

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

  • First Published July 14, 2010
Article

Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression

  • First Published November 3, 2009
Methods

Transcriptional and post-transcriptional profile of human chromosome 21

  • First Published July 6, 2009
LETTER

Thylacinus cynocephalus)" > The mitochondrial genome sequence of the Tasmanian tiger (Thylacinus cynocephalus)

  • First Published January 12, 2009
LETTER

Transcriptional enhancement by GATA1-occupied DNA segments is strongly associated with evolutionary constraint on the binding site motif

  • First Published September 25, 2008
RESOURCE

28-Way vertebrate alignment and conservation track in the UCSC Genome Browser

  • First Published November 5, 2007
RESOURCE

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

  • First Published September 25, 2007
ARTICLE

Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions

  • First Published June 13, 2007
ARTICLE

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

  • First Published June 13, 2007
LETTER

cis-regulatory elements using comparative genomics: Some lessons from ENCODE data" > Finding cis-regulatory elements using comparative genomics: Some lessons from ENCODE data

  • First Published June 13, 2007
LETTER

Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution

  • First Published June 13, 2007
LETTER

Structured RNAs in the ENCODE selected regions of the human genome

  • First Published June 13, 2007
RESOURCE

A framework for collaborative analysis of ENCODE data: Making large-scale analyses biologist-friendly

  • First Published June 13, 2007
LETTER

Using genomic data to unravel the root of the placental mammal phylogeny

  • First Published February 23, 2007
Methods

ESPERR: Learning strong and weak signals in genomic sequence alignments to identify functional elements

  • First Published October 19, 2006
LETTER

cis-regulatory modules" > Experimental validation of predicted mammalian erythroid cis-regulatory modules

  • First Published October 12, 2006
Methods

Reconstructing contiguous regions of an ancestral genome

  • First Published September 18, 2006
LETTER

Tandem chimerism as a means to increase protein complexity in the human genome

  • First Published December 12, 2005
RESOURCE

Galaxy: A platform for interactive large-scale genome analysis

  • First Published September 16, 2005
ARTICLE

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

  • First Published July 15, 2005
Chicken Special/Resources

Mulan: Multiple-sequence local alignment and visualization for studying function and evolution

  • First Published December 8, 2004
Chicken Special/Letters

Evolution and functional classification of vertebrate gene deserts

  • First Published December 8, 2004
LETTER

Reconstructing large regions of an ancestral mammalian genome in silico

  • First Published December 1, 2004
LETTER

Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome

  • First Published July 1, 2004
LETTER

Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment

  • First Published April 12, 2004
RESOURCE

Aligning Multiple Genomic Sequences With the Threaded Blockset Aligner

  • First Published April 1, 2004
LETTER

Comparative Analysis of the α-Like Globin Clusters in Mouse, Rat, and Human Chromosomes Indicates a Mechanism Underlying Breaks in Conserved Synteny

  • First Published April 1, 2004
Methods

Regulatory Potential Scores From Genome-Wide Three-Way Alignments of Human, Mouse, and Rat

  • First Published April 1, 2004
ARTICLE

Patterns of Insertions and Their Covariation With Substitutions in the Rat, Mouse, and Human Genomes

  • First Published April 1, 2004
RESOURCE

zPicture: Dynamic Alignment and Visualization Tool for Analyzing Conservation Profiles

  • First Published March 1, 2004
RESOURCE

GALA, a Database for Genomic Sequence Alignments and Annotations

  • First Published April 1, 2003
LETTER

Distinguishing Regulatory DNA From Neutral Sites

  • First Published January 1, 2003
ARTICLE

Covariation in Frequencies of Substitution, Deletion, Transposition, and Recombination During Eutherian Evolution

  • First Published January 1, 2003
LETTER

Gene Length and Proximity to Neighbors Affect Genome-Wide Expression Levels

  • First Published January 1, 2003
METHODS

Human–Mouse Alignments with BLASTZ

  • First Published December 30, 2002
REPORT

3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome " > Generation and Comparative Analysis of ∼3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome

  • First Published January 1, 2002
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