Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
Evolution of gene regulation in ruminants differs between evolutionary breakpoint regions and homologous synteny blocks
- First Published February 13, 2019
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
Pangolin genomes and the evolution of mammalian scales and immunity
- First Published August 10, 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
DNA methylation profiles of human active and inactive X chromosomes
- First Published August 23, 2011
Method
Genome-wide characterization of centromeric satellites from multiple mammalian genomes
- First Published November 16, 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
RESOURCE
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
- First Published September 25, 2007
LETTER
Structured RNAs in the ENCODE selected regions of the human genome
- First Published June 13, 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
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
The Origin of Human Chromosome 1 and Its Homologs in Placental Mammals
- First Published July 17, 2003
LETTER
Comparative Genome Organization of Human, Murine, and Feline MHC Class II Region
- First Published May 12, 2003
LETTER
Genomic Microsatellites as Evolutionary Chronometers: A Test in Wild Cats
- First Published March 1, 2002
ARTICLE
Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
- First Published September 1, 2000
LETTER
A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping
- First Published May 1, 2000
LETTER
Extensive Conservation of Sex Chromosome Organization Between Cat and Human Revealed by Parallel Radiation Hybrid Mapping
- First Published December 1, 1999
LETTER
A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes
- First Published November 1, 1999