Robert Lyle

Summary

Affiliation: University of Oslo
Country: Norway

Publications

  1. pmc Limitations and possibilities of low cell number ChIP-seq
    Gregor D Gilfillan
    Department of Medical Genetics, Oslo University Hospital, Norway
    BMC Genomics 13:645. 2012
  2. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
  3. pmc Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 17:1690-6. 2007
  4. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
  5. doi request reprint Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Sophie Dahoun
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet A 146:2086-93. 2008
  6. ncbi request reprint Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
  7. ncbi request reprint Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004
  8. doi request reprint Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mamm Genome 19:272-8. 2008
  9. doi request reprint CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
    Monica Cheng Munthe-Kaas
    Department of Pediatrics, Oslo University Hospital, Oslo, Norway
    J Allergy Clin Immunol 125:1361-8. 2010
  10. ncbi request reprint Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Am J Med Genet A 140:1384-95. 2006

Collaborators

Detail Information

Publications16

  1. pmc Limitations and possibilities of low cell number ChIP-seq
    Gregor D Gilfillan
    Department of Medical Genetics, Oslo University Hospital, Norway
    BMC Genomics 13:645. 2012
    ..Using a ChIP-seq protocol optimised for low cell numbers (down to 100,000 cells/IP), we examined the performance of the ChIP-seq technique on a series of decreasing cell numbers...
  2. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
    ..However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype...
  3. pmc Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 17:1690-6. 2007
    ..The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information...
  4. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
    ..This study provides the first extensive data set on HSA21 gene-expression variation in DS and underscores its role in modulating the outcome of gene-dosage imbalance...
  5. doi request reprint Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Sophie Dahoun
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet A 146:2086-93. 2008
    ....
  6. ncbi request reprint Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
    ..5-fold in control samples, are unlikely to be involved in DS-phenotypes present in all affected individuals...
  7. ncbi request reprint Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004
    ..Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance...
  8. doi request reprint Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mamm Genome 19:272-8. 2008
    ..Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene...
  9. doi request reprint CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
    Monica Cheng Munthe-Kaas
    Department of Pediatrics, Oslo University Hospital, Oslo, Norway
    J Allergy Clin Immunol 125:1361-8. 2010
    ..Single nucleotide polymorphisms (SNPs) in the CD14 gene have been associated with soluble CD14 (sCD14) levels, but inconsistencies between studies suggest the presence of regulatory mechanisms hitherto not well understood...
  10. ncbi request reprint Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Am J Med Genet A 140:1384-95. 2006
    ..Our data suggest that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signalling...
  11. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
    ..However, such deeply conserved elements account for <1% of the conserved non-coding sequences in the human genome, which are predominantly mammalian...
  12. pmc Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 14:1268-74. 2004
    ..5-fold. These data provide candidate genes that might be involved in the phenotypes of Down syndrome, and reveal a complex regulation of gene expression that is not only related to gene copy number...
  13. doi request reprint A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Siv Fokstuen
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 29:879-85. 2008
    ..The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification...
  14. ncbi request reprint Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
    Marie Wattenhofer
    Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, Geneva, Switzerland
    Hum Mutat 25:543-9. 2005
    ..Our results indicate that the ability of CLDN14 to be recruited to these junctions is crucial for the hearing process...
  15. ncbi request reprint Human chromosome 21 gene expression atlas in the mouse
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
    Nature 420:582-6. 2002
    ..This high resolution expression 'atlas' of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome...
  16. ncbi request reprint Nineteen additional unpredicted transcripts from human chromosome 21
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School, 1211 Geneva, Switzerland
    Genomics 79:824-32. 2002
    ....