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Research

3C sites in poly(A) RNA" > Nanopore direct RNA sequencing reveals METTL2A-mediated m3C sites in poly(A) RNA

  • First Published October 30, 2025
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
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

Positive selective sweeps of epigenetic mutations regulating specialized metabolites in plants

  • First Published May 18, 2021
Research

Long-read sequencing for non-small-cell lung cancer genomes

  • First Published September 4, 2020
Method

Metabolic labeling of RNA using multiple ribonucleoside analogs enables the simultaneous evaluation of RNA synthesis and degradation rates

  • First Published August 25, 2020
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

Long terminal repeats power evolution of genes and gene expression programs in mammalian oocytes and zygotes

  • First Published May 18, 2017
Research

A GC-rich sequence feature in the 3′ UTR directs UPF1-dependent mRNA decay in mammalian cells

  • First Published December 9, 2016
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Resource

Ciona intestinalis" > Genome-wide identification and characterization of transcription start sites and promoters in the tunicate Ciona intestinalis

  • First Published December 14, 2015
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
Research

Plasmodium falciparum" > Interactive transcriptome analysis of malaria patients and infecting Plasmodium falciparum

  • First Published August 4, 2014
Resource

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

  • First Published January 3, 2014
Resource

Coelacanth genomes reveal signatures for evolutionary transition from water to land

  • First Published July 22, 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
Research

High-resolution DNA methylome analysis of primordial germ cells identifies gender-specific reprogramming in mice

  • First Published February 14, 2013
Research

Genome-wide genetic variations are highly correlated with proximal DNA methylation patterns

  • First Published June 11, 2012
Research

DNA methylation profiles of human active and inactive X chromosomes

  • First Published August 23, 2011
Resource

Genome-wide characterization of transcriptional start sites in humans by integrative transcriptome analysis

  • First Published March 3, 2011
Research

Nucleotide composition-linked divergence of vertebrate core promoter architecture

  • First Published January 10, 2011
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

Distinct class of putative “non-conserved” promoters in humans: Comparative studies of alternative promoters of human and mouse genes

  • First Published June 13, 2007
LETTER

Toxoplasma gondii" > Common inheritance of chromosome Ia associated with clonal expansion of Toxoplasma gondii

  • First Published August 10, 2006
LETTER

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

  • First Published December 12, 2005
LETTER

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

  • First Published December 12, 2005
LETTER

Analysis of Small Human Proteins Reveals the Translation of Upstream Open Reading Frames of mRNAs

  • First Published October 15, 2004
LETTER

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

  • First Published September 1, 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

Fugu ESTs: New Resources for Transcription Analysis and Genome Annotation" > Fugu ESTs: New Resources for Transcription Analysis and Genome Annotation

  • First Published January 1, 2003
REPORT

Identification and Characterization of the Potential Promoter Regions of 1031 Kinds of Human Genes

  • First Published April 11, 2001
RESOURCE

A cSNP Map and Database for Human Chromosome 21

  • 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
METHODS

CART Classification of Human 5′ UTR Sequences

  • First Published November 8, 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
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