Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal
- First Published February 16, 2016
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
Resource
Chlorocebus aethiops sabaeus)" > The genome of the vervet (Chlorocebus aethiops sabaeus)
- First Published September 16, 2015
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
Resource
A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons
- First Published August 14, 2012
Research
DNA methylation profiles of human active and inactive X chromosomes
- First Published August 23, 2011
Research
Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
- First Published August 8, 2011
Research
Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure
- First Published July 14, 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
Letter
Evolutionary descent of a human chromosome 6 neocentromere: A jump back to 17 million years ago
- First Published May 1, 2009
LETTER
Sequencing human–gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites
- First Published November 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
PERSPECTIVE
Ancestral genomes reconstruction: An integrated, multi-disciplinary approach is needed
- First Published October 19, 2006
LETTER
Tandem chimerism as a means to increase protein complexity in the human genome
- First Published December 12, 2005
LETTER
A genome-wide survey of structural variation between human and chimpanzee
- First Published September 16, 2005
LETTER
Punctuated duplication seeding events during the evolution of human chromosome 2p11
- First Published June 17, 2005
LETTER
Insertion of Telomeric Repeats at Intrachromosomal Break Sites During Primate Evolution
- First Published August 12, 2004
LETTER
Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome
- First Published July 1, 2004
ARTICLE
Analysis of Segmental Duplications and Genome Assembly in the Mouse
- First Published May 3, 2004
LETTER
Complex Events in the Evolution of the Human Pseudoautosomal Region 2 (PAR2)
- First Published January 14, 2003
LETTER
Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25
- First Published January 1, 2003
ARTICLE
Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
- First Published September 1, 2000
ARTICLE
CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome
- First Published November 1, 1999
LETTER
A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes
- First Published November 1, 1999
ARTICLE
Extreme Reduction of Chromosome-Specific α-Satellite Array Is Unusually Common in Human Chromosome 21
- First Published October 1, 1999