Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

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Mice Lacking the β3Subunit of the GABAAReceptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

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Imprinting in Prader–Willi and Angelman syndromes

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The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

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Allele-specific replication timing of imprinted gene regions

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

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Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome

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

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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

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A mouse model for Prader-Willi syndrome imprinting-centre mutations

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

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

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

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The human gene mutation database

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

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Homologous Association of Oppositely Imprinted Chromosomal Domains

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Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader–Willi syndrome critical region

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

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Disruption of the mouse necdin gene results in early post-natal lethality

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Maternal methylation imprints on human chromosome 15 are established during or after fertilization

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Genetics of Angelman Syndrome

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Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

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Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

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An imprinted, mammalian bicistronic transcript encodes two independent proteins

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The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

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Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

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A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

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Asynchronous replication of imprinted genes is established in the gametes and maintained during development

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Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.

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Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype

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A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

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De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

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Masquerading Repeats: Paralogous Pitfalls of the Human GenomePreprint

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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

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Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

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Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

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Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain

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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

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes

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The imprinting box of the Prader-Willi/Angelman syndrome domain

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An Imprinted Mouse Transcript Homologous to the Human Imprinted in Prader-Willi Syndrome (IPW) Gene

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Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

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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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The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression

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A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

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A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

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Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

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Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene

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A candidate model for angelman syndrome in the mouse

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Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

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The Postmitotic Growth Suppressor Necdin Interacts with a Calcium-binding Protein (NEFA) in Neuronal Cytoplasm

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Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome

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Developmental trends of sleep‐disordered breathing in Prader‐Willi syndrome: The role of obesity

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Differential expression of putative transbilayer amphipath transporters

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Imprinted expression of small nucleolar RNAs in brain: Time for RNomics

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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

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Additional Complexity on Human Chromosome 15q: Identification of a Set of Newly Recognized Duplicons (LCR15) on 15q11–q13, 15q24, and 15q26Preprint

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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

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A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat

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Structure of the Highly Conserved HERC2 Gene and of Multiple Partially Duplicated Paralogs in HumanPreprint

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In vivo Nuclease Hypersensitivity Studies Reveal Multiple Sites of Parental Origin-Dependent Differential Chromatin Conformation in the 150 Kb SNRPN Transcription Unit

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Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control

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Identification of a Testis-Specific Gene (C15orf2) in the Prader–Willi Syndrome Region on Chromosome 15

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Imprinting: focusing on the center

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Genomic imprinting: Lessons from mouse transgenes

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Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci

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Incriminating gene suspects, Prader-Willi style

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Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila

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Methylation analysis of the PWS/AS region does not support an enhancer-competition model

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Structure and function correlations at the imprinted mouse Snrpn locus

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Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

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Untitled work

(2009)

The Epidemiology of Autism Spectrum Disorders

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Trim28 Is Required for Epigenetic Stability During Mouse Oocyte to Embryo Transition

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Cause and Consequences of Genetic and Epigenetic Alterations in Human Cancer

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A Window of Opportunity: The Diagnosis of Gonadotropin Deficiency in the Male Infant 1

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Long-term effects of culture of preimplantation mouse embryos on behavior

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HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

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Autism Spectrum Disorders and Epigenetics

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NIPA1(SPG6), the Basis for Autosomal Dominant Form of Hereditary Spastic Paraplegia, Encodes a Functional Mg2+ Transporter

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Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

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Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms' tumor

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Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader–Willi syndrome

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Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatinPreprint

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Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc

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Possible Genomic Imprinting of Three Human Obesity–Related Genetic Loci

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Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome

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Chapter 7 Regulation of Imprinting in Clusters: Noncoding RNAs Versus Insulators

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Digital Genome-Wide ncRNA Expression, Including SnoRNAs, across 11 Human Tissues Using PolyA-Neutral Amplification

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Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders

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Epigenetics and human disease

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Functional and pathological relevance of HERC family proteins: a decade later

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The role of imprinted genes in fetal growth abnormalities

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Towards a molecular understandingof Prader-Willi and Angelman syndromes

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Towards a molecular understanding of Prader–Willi and Angelman

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Human monoamine oxidase: from genetic variation to complex human phenotypes

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Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes

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Angelman and Prader-Willi syndromes

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