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Sequencing Primate Genomes: What Have We Learned?

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Genomic Sequence and Transcriptional Profile of the Boundary Between Pericentromeric Satellites and Genes on Human Chromosome Arm 10pPreprint

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Transposable Elements as Sources of Genomic Variation

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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

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A brief history of human autosomes.

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Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q

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Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level

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Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16Preprint

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Structural polymorphism and diversity of human segmental duplications

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M‐ABC2, a new human mitochondrial ATP‐binding cassette membrane protein

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Pericentromeric Duplications in the Laboratory MousePreprint

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Interchromosomal Duplications on the Bactrocera oleae Y Chromosome Imply a Distinct Evolutionary Origin of the Sex Chromosomes Compared to Drosophila

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[56] Peroxisomal ABC transporters

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Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described

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Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosomePreprint

Kirsch, S., Weiß, B., Miner, T. L., Waterston, R., Clark, R. A., Eichler, E. E., Münch, C., Schempp, W., & Rappold, G. (2005) · Genome Research · doi:10.1101/gr.3302705 · Cited by 36 · see citing works

Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35

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Using a Pericentromeric Interspersed Repeat to Recapitulate the Phylogeny and Expansion of Human Centromeric Segmental Duplications

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Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2

Riazi, M., Brinkman-Mills, P., Johnson, A., Naylor, S. L., Minoshima, S., Shimizu, N., Baldini, A., & McDermid, H. E. (1999) · Genomics · doi:10.1006/geno.1999.5975 · Cited by 34 · see citing works

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Biase, I. D., Tortorelli, S., Kratz, L. E., Steinberg, S. J., Cusmano‐Ozog, K. P., & Braverman, N. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0713-9 · Cited by 33 · see citing works

Punctuated duplication seeding events during the evolution of human chromosome 2p11Preprint

Horvath, J. E., Gulden, C., Vallente, R. U., Eichler, M. Y., Ventura, M., McPherson, J. D., Graves, T., Wilson, R. K., Schwartz, S., Rocchi, M., et al. (2005) · Genome Research · doi:10.1101/gr.3916405 · Cited by 32 · see citing works

Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms

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Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regionsPreprint

Kirsch, S., Münch, C., Jiang, Z., Cheng, Z., Chen, L., Batz, C., Eichler, E. E., & Schempp, W. (2008) · Genome Research · doi:10.1101/gr.076711.108 · Cited by 30 · see citing works

Localization of mariner DNA Transposons in the Human Genome by PRINSPreprint

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Human chromosome 9 pericentric homologies: implications for chromosome 9 heteromorphisms

Park, J. P., Wojiski, S. A., Spellman, R. A., Rhodes, C. H., & Mohandas, T. K. (1998) · Cytogenetic and Genome Research · doi:10.1159/000015097 · Cited by 29 · see citing works

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

Rossi, M., Ricci, E., Colantoni, L., Galluzzi, G., Frusciante, R., Tonali, P. A., & Felicetti, L. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-8 · Cited by 28 · see citing works

A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes

van Geel, M., Eichler, E. E., Beck, A. F., Shan, Z., Haaf, T., van der Maarel, S. M., Frants, R. R., & de Jong, P. J. (2002) · The American Journal of Human Genetics · doi:10.1086/338307 · Cited by 28 · see citing works

Genomic Organization of a 225-kb Region in Xq28 Containing the Gene for X-Linked Myotubular Myopathy (MTM1) and a Related Gene (MTMR1)

Kioschis, P., Wiemann, S., Heiss, N. S., Francis, F., Götz, C., Poustka, A., Taudien, S., Platzer, M., Wiehe, T., Beckmann, G., et al. (1998) · Genomics · doi:10.1006/geno.1998.5560 · Cited by 26 · see citing works

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Kumar, N., Taneja, K. K., Kalra, V., Behari, M., Aneja, S., & Bansal, S. K. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025094 · Cited by 25 · see citing works

Divergent Origins and Concerted Expansion of Two Segmental Duplications on Chromosome 16

Eichler, E. E., Johnson, M. E., Alkan, C., Tüzün, E., Şahinalp, S. C., Misceo, D., Archidiacono, N., & Rocchi, M. (2001) · Journal of Heredity · doi:10.1093/jhered/92.6.462 · Cited by 25 · see citing works

Insights into Mammalian Genome Organization and Evolution by Molecular Cytogenetics

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Recent amplification of the human FRG1 gene during primate evolution

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Human Paralogs of KIAA0187 Were Created through Independent Pericentromeric-Directed and Chromosome-Specific Duplication MechanismsPreprint

Crosier, M., Viggiano, L., Guy, J., Misceo, D., Stones, R., Wei, W., Hearn, T., Ventura, M., Archidiacono, N., Rocchi, M., et al. (2002) · Genome Research · doi:10.1101/gr.213702 · Cited by 24 · see citing works

Eight novel<i>ABCD1</i>gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., & Berger, J. (2001) · Human Mutation · doi:10.1002/humu.1149 · Cited by 23 · see citing works

Molecular evolution of the human chromosome 15 pericentromeric region

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The structure and function of specific chromosome regions. I. Centromeres

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

Potier, M., Dutriaux, A., Orti, R., Groet, J., Gibelin, N., Karadima, G., Lutfalla, G., Lynn, A., Broeckhoven, C. V., Chakravarti, A., et al. (1998) · Genomics · doi:10.1006/geno.1998.5389 · Cited by 22 · see citing works

Genome-wide Detection and Analysis of Recent Segmental Duplications within Mammalian OrganismsPreprint

Bailey, J. A., & Eichler, E. E. (2003) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2003.68.115 · Cited by 22 · see citing works

X-Linked Adrenoleukodystrophy

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Modelling segmental duplications in the human genome

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X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset

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Centromere on the MovePreprint

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Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22

Luijten, M., Redeker, S., Minoshima, S., Shimizu, N., Westerveld, A., & Hulsebos, T. J. M. (2001) · Human Genetics · doi:10.1007/s004390100543 · Cited by 17 · see citing works

Evolutionary implications of pericentromeric gene expression in humans

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Molecular Approaches to the Rett Syndrome Gene

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Genomic Organization of the 70-kDa Peroxisomal Membrane Protein Gene (PXMP1)

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Erratum: Initial sequencing and analysis of the human genome

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X-linked Adrenoleukodystrophy

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HeT-A telomere-specific retrotransposons in the centric heterochromatin of Drosophila melanogaster chromosome 3

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Euchromatic Variants

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Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11

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Amplification of different satellite-DNAs in prostate cancer

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Isolation and characterization of adrenoleukodystrophy protein (ALDP) related sequences in the human genome

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X-linked adrenoleukodystrophy gene: identification of a candidate gene by positional cloning

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Genomic organization of the adrenoleukodystrophy gene

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Structure and Location of the Murine Adrenoleukodystrophy Gene

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Full Length cDNA Cloning, Promoter Sequence, and Genomic Organization of the Human Adrenoleukodystrophy Related (ALDR) Gene Functionally Redundant to the Gene Responsible for X-Linked Adrenoleukodystrophy

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