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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
Research

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

  • First Published December 5, 2024
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

High-resolution structural genomics reveals new therapeutic vulnerabilities in glioblastoma

  • First Published June 27, 2019
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
Method

TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data

  • First Published July 24, 2014
Resource

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

  • First Published January 3, 2014
Method

Functional DNA methylation differences between tissues, cell types, and across individuals discovered using the M&M algorithm

  • First Published June 26, 2013
Method

Estimating absolute methylation levels at single-CpG resolution from methylation enrichment and restriction enzyme sequencing methods

  • First Published June 26, 2013
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
Method

Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer

  • First Published May 25, 2012
Research

DNA methylation profiles of human active and inactive X chromosomes

  • First Published August 23, 2011
Research

Extensive relationship between antisense transcription and alternative splicing in the human genome

  • First Published June 30, 2011
Research

Drosophila melanogaster microRNAs yields insights into their processing, modification, and emergence" > Deep annotation of Drosophila melanogaster microRNAs yields insights into their processing, modification, and emergence

  • First Published December 22, 2010
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
Research

Locus co-occupancy, nucleosome positioning, and H3K4me1 regulate the functionality of FOXA2-, HNF4A-, and PDX1-bound loci in islets and liver

  • First Published June 15, 2010
Resource

The completion of the Mammalian Gene Collection (MGC)

  • First Published September 18, 2009
Methods

Transcriptional and post-transcriptional profile of human chromosome 21

  • First Published July 6, 2009
Methods

Next-generation tag sequencing for cancer gene expression profiling

  • First Published June 18, 2009
Resource

Circos: An information aesthetic for comparative genomics

  • First Published June 18, 2009
Resource

C. elegans" > Massively parallel sequencing of the polyadenylated transcriptome of C. elegans

  • First Published January 30, 2009
LETTER

In-depth characterization of the microRNA transcriptome in a leukemia progression model

  • First Published October 10, 2008
LETTER

Genome-wide relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor binding

  • First Published September 11, 2008
Methods

Application of massively parallel sequencing to microRNA profiling and discovery in human embryonic stem cells

  • First Published February 19, 2008
RESOURCE

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

  • First Published September 25, 2007
LETTER

Caenorhabditis elegans operons" > Identification and analysis of internal promoters in Caenorhabditis elegans operons

  • First Published August 21, 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

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

Large-scale production of SAGE libraries from microdissected tissues, flow-sorted cells, and cell lines

  • First Published November 29, 2006
Methods

Physical map-assisted whole-genome shotgun sequence assemblies

  • First Published June 1, 2006
RESOURCE

Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling" > Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling

  • First Published May 3, 2006
LETTER

Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla

  • First Published December 19, 2005
LETTER

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

  • First Published December 12, 2005
Methods

Simple, robust methods for high-throughput nanoliter-scale DNA sequencing

  • First Published September 16, 2005
ARTICLE

C. elegans daf-2 mutants using serial analysis of gene expression" > Analysis of long-lived C. elegans daf-2 mutants using serial analysis of gene expression

  • First Published April 18, 2005
Methods

Systematic Recovery and Analysis of Full-ORF Human cDNA Clones

  • First Published October 15, 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

Development and Application of a Salmonid EST Database and cDNA Microarray: Data Mining and Interspecific Hybridization Characteristics

  • First Published February 12, 2004
RESOURCE

Internet Contig Explorer (iCE)—A Tool for Visualizing Clone Fingerprint Maps

  • First Published June 1, 2003
Methods

Assessment of SAGE in Transcript Identification

  • First Published May 12, 2003
METHODS

Software for Automated Analysis of DNA Fingerprinting Gels

  • First Published May 1, 2003
RESOURCE

Cryptococcus neoformans " > Physical Maps for Genome Analysis of Serotype A and D Strains of the Fungal Pathogen Cryptococcus neoformans

  • First Published August 21, 2002
RESOURCE

An Oligonucleotide Fingerprint Normalized and Expressed Sequence Tag Characterized Zebrafish cDNA Library

  • First Published August 16, 2001
ARTICLE

Caenorhabditis elegans " > Changes in Gene Expression Associated with Developmental Arrest and Longevity in Caenorhabditis elegans

  • First Published July 12, 2001
RESOURCE

A cSNP Map and Database for Human Chromosome 21

  • First Published January 18, 2001
METHODS

Theories and Applications for Sequencing Randomly Selected Clones

  • 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

Identifying Potential Tumor Markers and Antigens by Database Mining and Rapid Expression Screening

  • First Published September 1, 2000
LETTER

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

  • First Published November 1, 1999
LETTER

CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map" > The CMT2D Locus: Refined Genetic Position and Construction of a Bacterial Clone-Based Physical Map

  • First Published June 1, 1999
LETTER

High Throughput Fingerprint Analysis of Large-Insert Clones

  • First Published November 1, 1997
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