Natural Genetic Variation Caused by Transposable Elements in Humans

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

The Human Genome Browser at UCSC

2002 • 9,920 citations

<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool

2002 • 8,153 citations

Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy Assessment

1998 • 6,925 citations

The International HapMap Project

2003 • 5,951 citations

Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities

1998 • 5,382 citations

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

2001 • 2,948 citations

Alu repeats and human genomic diversity

2002 • 1,436 citations

Recent Segmental Duplications in the Human Genome

2002 • 1,342 citations

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition

1993 • 1,129 citations

Human L1 Retrotransposon Encodes a Conserved Endonuclease Required for Retrotransposition

1996 • 1,093 citations

Hot L1s account for the bulk of retrotransposition in the human population

2003 • 1,008 citations

High Frequency Retrotransposition in Cultured Mammalian Cells

1996 • 989 citations

Repbase Update: a database and an electronic journal of repetitive elements

2000 • 983 citations

LINE-mediated retrotransposition of marked Alu sequences

2003 • 965 citations

Interspersed repeats and other mementos of transposable elements in mammalian genomes

1999 • 959 citations

Alu Repeats and Human Disease

1999 • 898 citations

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

1988 • 883 citations

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1.

1998 • 815 citations

Human LINE retrotransposons generate processed pseudogenes

2000 • 807 citations

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1998 • 797 citations

Biology of Mammalian L1 Retrotransposons

2001 • 751 citations

Reverse Transcriptase Encoded by a Human Transposable Element

1991 • 748 citations

Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map

2001 • 666 citations

Human L1 Retrotransposition: cisPreference versus trans Complementation

2001 • 617 citations

Alu sequences are processed 7SL RNA genes

1984 • 592 citations

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.

1992 • 551 citations

Human L1 element target-primed reverse transcription in vitro

2002 • 491 citations

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

2002 • 469 citations

Tiggers and DNA transposon fossils in the human genome.

1996 • 421 citations

A fundamental division in the Alu family of repeated sequences.

1988 • 383 citations

Sources and evolution of human Alu repeated sequences.

1988 • 359 citations

SVA Elements Are Nonautonomous Retrotransposons that Cause Disease in Humans

2003 • 340 citations

Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA.

1996 • 338 citations

Nucleic Acid Chaperone Activity of the ORF1 Protein from the Mouse LINE-1 Retrotransposon

2001 • 334 citations

Master genes in mammalian repetitive DNA amplification

1992 • 321 citations

Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma

1988 • 320 citations

L1 (LINE-1) Retrotransposon Evolution and Amplification in Recent Human History

2000 • 290 citations

Mutation analysis in the BRCA2 gene in primary breast cancers

1996 • 283 citations

MaskerAid : a performance enhancement to RepeatMasker

2000 • 242 citations

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

1993 • 197 citations

Construction of a General Human Chromosome Jumping Library, with Application to Cystic Fibrosis

1987 • 195 citations

Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.

1994 • 190 citations

Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon

1997 • 187 citations

A Genome-Wide Screen for Normally Methylated Human CpG Islands That Can Identify Novel Imprinted Genes

2002 • 182 citations

Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity

2001 • 169 citations

In vitro properties of the first ORF protein from mouse LINE-1 support its role in ribonucleoprotein particle formation during retrotransposition

1997 • 158 citations

Alu Insertion Polymorphisms for the Study of Human Genomic Diversity

2001 • 158 citations

Genetic mapping with SNP markers in Drosophila

2001 • 154 citations

A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements

2002 • 153 citations

Active Alu Element “A-Tails”: Size Does Matter

2002 • 151 citations

Reading between the LINEs: Human Genomic Variation Induced by LINE-1 Retrotransposition

2000 • 143 citations

Clustering and subfamily relationships of the Alu family in the human genome.

1987 • 135 citations

Genomic Characterization of Recent Human LINE-1 Insertions: Evidence Supporting Random Insertion

2001 • 120 citations

Trimeric structure for an essential protein in L1 retrotransposition

2003 • 120 citations

Recently Integrated Alu Elements and Human Genomic Diversity

2003 • 116 citations

ATLAS: A System to Selectively Identify Human-Specific L1 Insertions

2003 • 108 citations

How Many SNPs Does a Genome-Wide Haplotype Map Require?

2002 • 105 citations

Master genes in mammalian repetitive DNA amplification

1992 • 89 citations

Unusual Mutations in Btk: An Insertion, a Duplication, an Inversion, and Four Large Deletions

1999 • 76 citations

Tracing the LINEs of human evolution

2002 • 72 citations

Deletion analysis defines distinct functional domains for protein-protein and nucleic acid interactions in the ORF1 protein of mouse LINE-1 1 1Edited by J. Karn

2000 • 70 citations

Active Alu in Paternal Germlines&gt;Active Alu Elements Are Passed Primarily through Paternal Germlines

2002 • 68 citations

Free left arms as precursor molecules in the evolution of Alu sequences

1991 • 51 citations

LINE-I element insertion at the t(11;22) translocation breakpoint of a desmoplastic small round cell tumor

1997 • 43 citations

A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.

1994 • 43 citations

Ribonuclease and high salt sensitivity of the ribonucleoprotein complex formed by the human LINE-1 retrotransposon

1997 • 41 citations

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

2000 • 39 citations

Human L1 retrotransposition: insights and peculiarities learned from a cultured cell retrotransposition assay

2000 • 38 citations

Fukuyama-type congenital muscular dystrophy

1982 • 36 citations

Human L1 retrotransposition: insights and peculiarities learned from a cultured cell retrotransposition assay

1999 • 27 citations

Potential for Retroposition by Old Alu Subfamilies

2003 • 26 citations

Single nucleotide polymorphisms (SNPs) that map to gaps in the human SNP map

2003 • 25 citations