Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
- First Published October 24, 2018
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
Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors
- First Published February 1, 2011
Method
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
- First Published July 14, 2010
Research
Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer
- First Published March 10, 2010
Methods
Transcriptional and post-transcriptional profile of human chromosome 21
- First Published July 6, 2009
LETTER
Reconfiguration of genomic anchors upon transcriptional activation of the human major histocompatibility complex
- First Published October 10, 2008
RESOURCE
An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)
- First Published June 24, 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
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
LETTER
Tandem chimerism as a means to increase protein complexity in the human genome
- First Published December 12, 2005
LETTER
KIR) loci in primates" > Single haplotype analysis demonstrates rapid evolution of the killer immunoglobulin-like receptor (KIR) loci in primates
- First Published January 3, 2005
LETTER
Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome
- First Published July 1, 2004
RESOURCE
Complete MHC Haplotype Sequencing for Common Disease Gene Mapping
- First Published May 12, 2004
REPORT
Characterization of Clustered MHC-Linked Olfactory Receptor Genes in Human and Mouse
- First Published March 13, 2001
LETTER
MHC-Linked Olfactory Receptor Loci Exhibit Polymorphism and Contribute to Extended HLA/OR-Haplotypes
- 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
RESEARCH
Estimation of Distances and Map Construction Using Radiation Hybrids
- First Published May 1, 1998