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Method

Simultaneous modeling of chromatin conformation changes from multiple single-cell interaction maps with ChromMovie

  • First Published April 8, 2026
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

An AR-ERG transcriptional signature defined by long-range chromatin interactomes in prostate cancer cells

  • First Published January 3, 2019
Research

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

  • First Published December 13, 2017
Method

An integrated 3-Dimensional Genome Modeling Engine for data-driven simulation of spatial genome organization

  • First Published October 27, 2016
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

Understanding transcriptional regulation by integrative analysis of transcription factor binding data

  • First Published September 5, 2012
Resource

The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression

  • First Published September 5, 2012
Research

DNA methylation profiles of human active and inactive X chromosomes

  • First Published August 23, 2011
Research

Transcriptional consequences of genomic structural aberrations in breast cancer

  • First Published April 5, 2011
Research

Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes

  • First Published April 5, 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
Methods

Transcriptional and post-transcriptional profile of human chromosome 21

  • First Published July 6, 2009
Next-Generation DNA Sequencing/Review

Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analyses

  • First Published April 1, 2009
LETTER

Evolution of the mammalian transcription factor binding repertoire via transposable elements

  • First Published August 5, 2008
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

Fusion transcripts and transcribed retrotransposed loci discovered through comprehensive transcriptome analysis using Paired-End diTags (PETs)

  • 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
Methods

Mapping of transcription factor binding regions in mammalian cells by ChIP: Comparison of array- and sequencing-based technologies

  • First Published June 13, 2007
LETTER

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

  • First Published December 12, 2005
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

A cSNP Map and Database for Human Chromosome 21

  • First Published January 18, 2001
LETTER

The Mouse Brain Transcriptome by SAGE: Differences in Gene Expression between P30 Brains of the Partial Trisomy 16 Mouse Model of Down Syndrome (Ts65Dn) and Normals

  • First Published December 1, 2000
ARTICLE

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

  • First Published September 1, 2000
LETTER

A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes

  • First Published November 1, 1999
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