Conserved non-genic sequences — an unexpected feature of mammalian genomes

Initial sequencing and comparative analysis of the mouse genome

2002 • 6,971 citations

Ultraconserved Elements in the Human Genome

2004 • 1,691 citations

Genetic analysis of genome-wide variation in human gene expression

2004 • 1,219 citations

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

2003 • 1,126 citations

Unbiased Mapping of Transcription Factor Binding Sites along Human Chromosomes 21 and 22 Points to Widespread Regulation of Noncoding RNAs

2004 • 1,079 citations

A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig

2003 • 915 citations

Differences in the Localization and Morphology of Chromosomes in the Human Nucleus

1999 • 902 citations

Identification of a Coordinate Regulator of Interleukins 4, 13, and 5 by Cross-Species Sequence Comparisons

2000 • 793 citations

Comparative analyses of multi-species sequences from targeted genomic regions

2003 • 637 citations

Scanning Human Gene Deserts for Long-Range Enhancers

2003 • 603 citations

The Dog Genome: Survey Sequencing and Comparative Analysis

2003 • 543 citations

Phylogenetic Shadowing of Primate Sequences to Find Functional Regions of the Human Genome

2003 • 526 citations

A Global Control Region Defines a Chromosomal Regulatory Landscape Containing the HoxD Cluster

2003 • 470 citations

Evolution of Transcription Factor Binding Sites in Mammalian Gene Regulatory Regions: Conservation and Turnover

2002 • 466 citations

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

2002 • 445 citations

Conserved noncoding sequences are reliable guides to regulatory elements

2000 • 428 citations

Evolutionary conservation of chromosome territory arrangements in cell nuclei from higher primates

2002 • 389 citations

A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome

2002 • 375 citations

Position effect in human genetic disease

1998 • 374 citations

A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse

2000 • 353 citations

Identification and Characterization of Multi-Species Conserved Sequences

2003 • 336 citations

Long Human–Mouse Sequence Alignments Reveal Novel Regulatory Elements: A Reason to Sequence the Mouse Genome

1997 • 325 citations

Active Conservation of Noncoding Sequences Revealed by Three-Way Species Comparisons

2000 • 311 citations

Covariation in Frequencies of Substitution, Deletion, Transposition, and Recombination During Eutherian Evolution

2003 • 293 citations

Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma

2002 • 267 citations

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

1983 • 266 citations

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

2002 • 243 citations

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

1989 • 240 citations

Transvection Effects in Drosophila

2002 • 235 citations

Megabase deletions of gene deserts result in viable mice

2004 • 215 citations

Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)

2003 • 198 citations

Strong conservation of non-coding sequences during vertebrates evolution: potential involvement in post-transcriptional regulation of gene expression

1993 • 160 citations

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1996 • 155 citations

Proneural gene self-stimulation in neural precursors: an essential mechanism for sense organ development that is regulated byNotch signaling

1998 • 154 citations

Distinguishing Regulatory DNA From Neutral Sites

2003 • 141 citations

Does looping and clustering in the nucleus regulate gene expression?

2004 • 114 citations

Functional constraints and frequency of deleterious mutations in noncoding DNA of rodents

2003 • 113 citations

A significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions

2003 • 96 citations

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

1996 • 96 citations

Evolutionarily Conserved Sequences on Human Chromosome 21

2001 • 92 citations

Quantification of DNaseI-sensitivity by real-time PCR: quantitative analysis of DNaseI-hypersensitivity of the mouse β-globin LCR 1 1Edited by J. Karn

2001 • 89 citations

Noncoding Sequences Conserved in a Limited Number of Mammals in the SIM2 Interval are Frequently Functional

2004 • 84 citations

Nuclear organization in differentiating oligodendrocytes

2002 • 81 citations

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

1995 • 78 citations

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

2004 • 78 citations

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

2002 • 75 citations

Transcriptional enhancers can act in trans

1990 • 75 citations

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases

1997 • 71 citations

Comparison of mouse and human HOX-4 complexes defines conserved sequences involved in the regulation of Hox-4.4.

1992 • 65 citations

Construction and Analysis of a Sequence-Ready Map in 4q25: Rieger Syndrome Can Be Caused by Haploinsufficiency ofRIEG, but Also by Chromosome Breaks ≈90 kb Upstream of This Gene

1998 • 62 citations

Evolution of the autosomal chorion locus in Drosophila. I. General organization of the locus and sequence comparisons of genes s15 and s19 in evolutionary distant species.

1988 • 52 citations

A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects

2002 • 51 citations

GALA, a Database for Genomic Sequence Alignments and Annotations

2003 • 47 citations