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SLC6 Neurotransmitter Transporters: Structure, Function, and Regulation

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Segmental Duplications: Organization and Impact Within the Current Human Genome Project AssemblyPreprint

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EVOLUTION OF THE ATP-BINDING CASSETTE (ABC) TRANSPORTER SUPERFAMILY IN VERTEBRATES

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Primate segmental duplications: crucibles of evolution, diversity and disease

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An inventory of the human ABC proteins

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The Origin of Interspecific Genomic Incompatibility via Gene Duplication

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Recent duplication, domain accretion and the dynamic mutation of the human genome

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Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic DisordersPreprint

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X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

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Segmental duplications: an 'expanding' role in genomic instability and disease

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Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

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Distribution of olfactory receptor genes in the human genome

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X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects

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X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes

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A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

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Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

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Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22

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Retrotransposon-Related DNA Sequences in the Centromeres of Grass Chromosomes

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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

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

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

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Masquerading Repeats: Paralogous Pitfalls of the Human GenomePreprint

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The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

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Lessons from the human genome: transitions between euchromatin and heterochromatin

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

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Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human ChromosomesPreprint

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Biochemical aspects of X-linked adrenoleukodystrophy

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Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

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Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 PericentromerePreprint

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Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

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Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons

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

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

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

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Molecular Evolution of the Opioid/Orphanin Gene Family

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Contiguous deletion of the X‐linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

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Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

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Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

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Repetitive conundrums of centromere structure and function

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The Evolution of Human Segmental Duplications and the Core Duplicon HypothesisPreprint

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A testis-specific gene, TPTE , encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

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Efficient Approach to Unique Single-Nucleotide Polymorphism DiscoveryPreprint

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Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12Preprint

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The Human Homolog of Insect-Derived Growth Factor, CECR1, Is a Candidate Gene for Features of Cat Eye Syndrome

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CAGGG Repeats and the Pericentromeric Duplication of the Hominoid GenomePreprint

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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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?-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

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

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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

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

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

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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

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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

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

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

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

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

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

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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

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