The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome

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

1998 • 6,925 citations

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

1998 • 5,382 citations

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1999 • 1,531 citations

The DNA sequence of human chromosome 22

1999 • 1,167 citations

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

1999 • 1,023 citations

A Computer Program for Aligning a cDNA Sequence with a Genomic DNA Sequence

1998 • 745 citations

Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes.

1980 • 454 citations

Tiggers and DNA transposon fossils in the human genome.

1996 • 421 citations

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

1999 • 281 citations

Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

1999 • 270 citations

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

1998 • 213 citations

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

1990 • 207 citations

Against a Whole-Genome Shotgun

1997 • 157 citations

Genome Duplications and Other Features in 12 Mb of DNA Sequence from Human Chromosome 16p and 16q

1999 • 154 citations

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

1996 • 154 citations

Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations

1999 • 152 citations

Masquerading Repeats: Paralogous Pitfalls of the Human Genome

1998 • 150 citations

Miropeats: graphical DNA sequence comparisons

1995 • 148 citations

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

1997 • 145 citations

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

1996 • 132 citations

The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

1999 • 128 citations

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

1998 • 121 citations

Pathological Consequences of Sequence Duplications in the Human Genome

1998 • 112 citations

Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants.

1981 • 105 citations

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

1997 • 100 citations

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11

2000 • 96 citations

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications

1998 • 94 citations

Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations

1988 • 89 citations

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

1997 • 87 citations

The immunoglobulin κ locus — or — what has been learned from looking closely at one-tenth of a percent of the human genome

1993 • 81 citations

Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.

1996 • 72 citations

CAGGG Repeats and the Pericentromeric Duplication of the Hominoid Genome

1999 • 71 citations

Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams Syndrome

1999 • 67 citations

Base composition and gene distribution: critical patterns in mammalian genome organization

1996 • 62 citations

A Genomic Region Encompassing a Cluster of Olfactory Receptor Genes and a Myosin Light Chain Kinase (MYLK) Gene Is Duplicated on Human Chromosome Regions 3q13–q21 and 3p13

1999 • 58 citations

Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans

1997 • 50 citations

A 9.75-Mb Map across the Centromere of Human Chromosome 10

1996 • 42 citations

Identification of complex chromosome rearrangements in the gibbon by fluorescent in situ hybridization (FISH) of a human chromosome 2q specific microlibrary, yeast artificial chromosomes, and reciprocal chromosome painting

1996 • 38 citations

Organization and evolution of an alpha satellite DNA subset shared by human chromosomes 13 and 21

1993 • 36 citations

Two Sequence-Ready Contigs Spanning the Two Copies of a 200-kb Duplication on Human 21q: Partial Sequence and Polymorphisms

1998 • 23 citations

Conservation of pericentromeric duplications of a 200-kb part of the human 21q22.1 region in primates

1998 • 18 citations

A 12-Mb Complete Coverage BAC Contig Map in Human Chromosome 16p13.1–p11.2

1999 • 18 citations

An Integrated Physical Map for the Short Arm of Human Chromosome 5

1999 • 5 citations