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
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
XIST locus" > Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus
- First Published April 25, 2011
Method
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
- First Published September 1, 2010
Method
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
- First Published July 14, 2010
Resource
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
- First Published July 14, 2009
Methods
Transcriptional and post-transcriptional profile of human chromosome 21
- First Published July 6, 2009
LETTER
Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event
- First Published October 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
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
WFDC locus in the primate lineage" > Comparative sequence analyses reveal rapid and divergent evolutionary changes of the WFDC locus in the primate lineage
- First Published January 31, 2007
LETTER
Tandem chimerism as a means to increase protein complexity in the human genome
- First Published December 12, 2005
ARTICLE
Distribution and intensity of constraint in mammalian genomic sequence
- First Published June 17, 2005
LETTER
Reconstructing large regions of an ancestral mammalian genome in silico
- First Published December 1, 2004
LETTER
An intermediate grade of finished genomic sequence suitable for comparative analyses
- First Published October 12, 2004
LETTER
Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome
- First Published July 1, 2004
RESOURCE
Aligning Multiple Genomic Sequences With the Threaded Blockset Aligner
- First Published April 1, 2004
ARTICLE
Identification and Characterization of Multi-Species Conserved Sequences
- First Published December 1, 2003
LETTER
Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes
- First Published May 1, 2003
METHODS
LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA
- First Published March 12, 2003
LETTER
Analysis of Primate Genomic Variation Reveals a Repeat-Driven Expansion of the Human Genome
- First Published March 1, 2003
METHODS
Parallel Construction of Orthologous Sequence-Ready Clone Contig Maps in Multiple Species
- First Published August 1, 2002
REPORT
3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome " > Generation and Comparative Analysis of ∼3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome
- First Published January 1, 2002
COMMENTARY
The Human Genome Sequence Expedition: Views from the “Base Camp”
- First Published May 1, 2001
ARTICLE
Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
- First Published September 1, 2000
REPORT
Comparative Genome Mapping in the Sequence-based Era: Early Experience with Human Chromosome 7
- First Published May 1, 2000
REPORT
CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion" > The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion
- First Published February 1, 2000
LETTER
A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes
- First Published November 1, 1999
LETTER
Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams Syndrome
- First Published May 1, 1999