A P Monaco

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. pmc Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
    Alistair T Pagnamenta
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Med Genet 48:48-54. 2011
  2. pmc Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
    Nuala H Sykes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 17:1347-53. 2009
  3. pmc Identification of candidate genes for dyslexia susceptibility on chromosome 18
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e13712. 2010
  4. pmc The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    J Biol Chem 285:40148-62. 2010
  5. pmc PCSK6 is associated with handedness in individuals with dyslexia
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Hum Mol Genet 20:608-14. 2011
  6. pmc High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility
    E Maestrini
    Department of Biology, University of Bologna, Bologna, Italy
    Mol Psychiatry 15:954-68. 2010
  7. pmc Links between genetics and pathophysiology in the autism spectrum disorders
    Richard Holt
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    EMBO Mol Med 3:438-50. 2011
  8. pmc A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
    Alistair T Pagnamenta
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
    J Neurodev Disord 3:124-31. 2011
  9. pmc Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia
    Alistair T Pagnamenta
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Biol Psychiatry 68:320-8. 2010
  10. ncbi Molecular genetics of speech and language disorders
    Dianne F Newbury
    Welcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Curr Opin Pediatr 14:696-701. 2002

Collaborators

Detail Information

Publications109 found, 100 shown here

  1. pmc Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
    Alistair T Pagnamenta
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Med Genet 48:48-54. 2011
    ..A recent study using the PPL statistical framework identified a novel region of genetic linkage on chromosome 16q21 that is limited to ASD families with LD...
  2. pmc Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
    Nuala H Sykes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 17:1347-53. 2009
    ..No CNVs or SNP associations were found within the sample set, although sequencing of the gene was not performed. Our data suggest that SHANK3 deletions may be limited to lower functioning individuals with autism...
  3. pmc Identification of candidate genes for dyslexia susceptibility on chromosome 18
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e13712. 2010
    ..Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s) conferring susceptibility by a two stage strategy of linkage and association analysis...
  4. pmc The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    J Biol Chem 285:40148-62. 2010
    ..These results suggest that KIAA0319 not only has a direct role in neuronal migration but may also have additional signaling functions...
  5. pmc PCSK6 is associated with handedness in individuals with dyslexia
    Thomas S Scerri
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Hum Mol Genet 20:608-14. 2011
    ..Furthermore, PCSK6 is a protease that cleaves the left-right axis determining protein NODAL. Functional studies of PCSK6 promise insights into mechanisms underlying cerebral lateralization and dyslexia...
  6. pmc High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility
    E Maestrini
    Department of Biology, University of Bologna, Bologna, Italy
    Mol Psychiatry 15:954-68. 2010
    ..Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family...
  7. pmc Links between genetics and pathophysiology in the autism spectrum disorders
    Richard Holt
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    EMBO Mol Med 3:438-50. 2011
    ..Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop...
  8. pmc A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
    Alistair T Pagnamenta
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
    J Neurodev Disord 3:124-31. 2011
    ..Finally, communicating unexpected findings such as these back to families raises a number of ethical questions, which are discussed...
  9. pmc Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia
    Alistair T Pagnamenta
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Biol Psychiatry 68:320-8. 2010
    ..A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair...
  10. ncbi Molecular genetics of speech and language disorders
    Dianne F Newbury
    Welcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Curr Opin Pediatr 14:696-701. 2002
    ..We also discuss recent molecular genetic advances made in the study of generalized specific language impairment...
  11. pmc Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
    Ines Sousa
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Mol Autism 1:7. 2010
    ..Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs...
  12. pmc FOXP2 is not a major susceptibility gene for autism or specific language impairment
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 70:1318-27. 2002
    ..We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment...
  13. ncbi Multivariate linkage analysis of specific language impairment (SLI)
    Anthony P Monaco
    The SLI Consortium SLIC
    Ann Hum Genet 71:660-73. 2007
    ..In contrast, SLI2 appeared to have influences on a selection of expressive and receptive language phenotypes in addition to non-word repetition, but did not show linkage to literacy phenotypes...
  14. ncbi Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    E Bacchelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    Mol Psychiatry 8:916-24. 2003
    ..Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility...
  15. ncbi A conserved sorting-associated protein is mutant in chorea-acanthocytosis
    L Rampoldi
    The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom
    Nat Genet 28:119-20. 2001
    ..We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting...
  16. pmc Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects
    D F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Behav Genet 41:90-104. 2011
    ..In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families...
  17. ncbi Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 7:289-301. 2002
    ..The analysis of these four genes strongly suggests that they do not play a major role in autism aetiology, and delineates our strategy to screen additional candidate genes in the AUTS1 locus...
  18. ncbi Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium
    E Maestrini
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Med Genet 88:492-6. 1999
    ..No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set...
  19. ncbi Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC)
    J P Rubio
    The Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, OX3 7BN, England
    Genomics 57:84-93. 1999
    ..This study has excluded two plausible candidate genes from involvement in CHAC and has provided a solid platform for a positional cloning initiative...
  20. pmc Mutations and phenotype in isolated glycerol kinase deficiency
    A P Walker
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 58:1205-11. 1996
    ....
  21. pmc The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder
    C S Lai
    The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Am J Hum Genet 67:357-68. 2000
    ..These studies represent further steps toward the isolation of the first gene to be implicated in the development of speech and language...
  22. ncbi A forkhead-domain gene is mutated in a severe speech and language disorder
    C S Lai
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nature 413:519-23. 2001
    ..Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language...
  23. ncbi Analysis of the human VPS13 gene family
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, OX3 7BN Oxford, UK
    Genomics 84:536-49. 2004
    ..Protein sequence comparisons suggest that intramolecular duplications have played an important role in the evolution of this gene family...
  24. ncbi Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
    A Bolino
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    Nat Genet 25:17-9. 2000
    ..Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP)...
  25. pmc Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population
    S Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genes Brain Behav 10:158-65. 2011
    ..The high linkage disequilibrium (LD) we observed across the DYX1C1 gene suggests that the association signal might not be refined by further genetic mapping...
  26. ncbi Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
    C Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Eur J Hum Genet 10:773-81. 2002
    ..The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic...
  27. ncbi Isolation of the human Xp21 glycerol kinase gene by positional cloning
    A P Walker
    ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 2:107-14. 1993
    ..The liver cDNA clones have sequence identity with four genomic exons and the 3' untranslated region from an Xp21.3 cosmid thus indicating that this is the expressed GK gene which when deleted in patients gives rises to GK deficiency...
  28. pmc Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT
    Gabrielle Barnby
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 76:950-66. 2005
    ..0001). Logistic regression analysis of SNP data across GRIN2A and ABAT showed a trend toward haplotypic differences between cases and controls...
  29. pmc Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Med Genet 42:132-7. 2005
    ..Here, we report analysis of an expanded sample of 219 ASP, using sex and parent of origin linkage modelling at loci on chromosomes 2, 7, 9, 15, and 16...
  30. ncbi Investigation of quantitative measures related to reading disability in a large sample of sib-pairs from the UK
    A J Marlow
    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Behav Genet 31:219-30. 2001
    ..68) supported their heritability. These findings demonstrate the viability of this sample for QTL mapping, and will assist in the interpretation of any subsequent linkage findings in an ongoing genome scan...
  31. ncbi Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
    Y Ishikawa-Brush
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK
    Hum Mol Genet 6:1241-50. 1997
    ..Investigation of mutations in these two genes in unrelated patients with either autism or multiple exostoses as well as linkage and association studies is needed to validate them as candidate genes...
  32. ncbi A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability
    C Francks
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Prostaglandins Leukot Essent Fatty Acids 63:27-31. 2000
    ..3 influences reading disability...
  33. pmc Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
    P Szepetowski
    The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Am J Hum Genet 61:889-98. 1997
    ..Our study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes...
  34. ncbi Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)
    A H Nemeth
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, England
    Genomics 60:320-9. 1999
    ..Several of the other genes and ESTs located within the contig code for proteins implicated in normal brain development and function and are candidates for DYT3...
  35. pmc A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:1046-58. 2004
    ..In addition, the QTL effect may be largely limited to the severe range of reading disability...
  36. ncbi The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms
    A Hovnanian
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX1 2JD, United Kingdom
    Genomics 52:267-77. 1998
    ....
  37. pmc A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
    L Addis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Genes Brain Behav 9:545-61. 2010
    ..Several genes in this region of chromosome 12 which are potentially implicated in language impairment did not contain polymorphisms likely to be the causative mutation, which is as yet unknown...
  38. ncbi Electronic identification and chromosomal assignment by radiation hybrid mapping of human expressed sequence tags corresponding to new potassium channel genes
    P Szepetowski
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Windmill Road, Headington, Oxford OX3 7BN, UK
    Neurogenetics 2:115-20. 1999
    ..The identification and mapping of all these genes will make them useful tools for mutation detection in neurological as well as other human diseases...
  39. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
    ..Our results provide evidence that a specific mutation in Cx26 can impair epidermal differentiation, as well as inner ear function...
  40. ncbi Analysis of reelin as a candidate gene for autism
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 8:885-92. 2003
    ..The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals...
  41. ncbi A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 13:70-7. 1996
    ..Our findings provide the first evidence for a defect in an EDC gene in human disease, and disclose novel insights into perturbations of cornified cell envelope formation...
  42. doi Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays
    L Winchester
    Genomics, Wellcome Trust Centre for Human Genetics, Oxford, UK
    Cytogenet Genome Res 123:322-32. 2008
    ..A long-range PCR assay was used to confirm the existence of the deletion. We also show the breakpoint identification and large-scale characterisation of this CNV in a normal human sample set...
  43. pmc Genetic advances in the study of speech and language disorders
    D F Newbury
    Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
    Neuron 68:309-20. 2010
    ....
  44. ncbi Novel genes mapping to the critical region of the 5q- syndrome
    J Boultwood
    Leukaemia Research Fund Molecular Haematology Unit, University Department of Cellular Science, John Radcliffe Hospital, Oxford, United Kingdom
    Genomics 45:88-96. 1997
    ..Genomic localization and expression patterns would suggest that these newly assigned cDNAs represent potential candidate genes for the 5q- syndrome...
  45. ncbi A Golgi localization signal identified in the Menkes recombinant protein
    M J Francis
    Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, Oxford OX3 7BN, UK
    Hum Mol Genet 7:1245-52. 1998
    ..Therefore, the protein sequence encoded by exon 10 may be responsible for this differential localization and both isoforms may be required for comprehensive transport of copper within the cell...
  46. ncbi Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
    A Bolino
    Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, England
    Neurogenetics 3:107-9. 2001
    ..Our results suggest that loss-of-function mutations in MTMR2 are preferentially associated with the CMT4B phenotype...
  47. pmc A genomewide scan for loci involved in attention-deficit/hyperactivity disorder
    Simon E Fisher
    Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom
    Am J Hum Genet 70:1183-96. 2002
    ..Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs...
  48. ncbi Autism: in search of susceptibility genes
    Janine A Lamb
    Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
    Neuromolecular Med 2:11-28. 2002
    ..The results of recent genetic linkage and candidate gene studies are reviewed in relation to the challenge of clinical and genetic heterogeneity, and prospects for the future of genetic research in autism are considered...
  49. ncbi Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia
    Simon E Fisher
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Nat Genet 30:86-91. 2002
    ..This is the first report of QTL-based genome-wide scanning for a human cognitive trait...
  50. ncbi Strategies for autism candidate gene analysis
    G Barnby
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Novartis Found Symp 251:48-63; discussion 63-9, 109-11, 281-97. 2003
    ..Targeted genotyping of candidate gene variants in this large multiplex family sample will then be performed to confirm association with autism...
  51. ncbi Generating subclones from large-insert genomic clones
    A P Monaco
    John Radcliffe Hospital, Headington, Oxford
    Curr Protoc Hum Genet . 2001
    ..This unit provides a simple protocol for generating a partial-digest sublibrary of yeast DNA containing a YAC of interest...
  52. ncbi Generation of large insert yeast artificial chromosome libraries
    Z Larin
    Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, UK
    Mol Biotechnol 8:147-53. 1997
    ..Large insert libraries are constructed by size fractionating large DNA embedded in agarose and protecting DNA from degradation with polyamines...
  53. pmc LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
    C Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 12:1129-39, 1057. 2007
    ..LRRTM1 is a candidate gene for involvement in several common neurodevelopmental disorders, and may have played a role in human cognitive and behavioral evolution...
  54. ncbi The utrophin and dystrophin genes share similarities in genomic structure
    M Pearce
    Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 2:1765-72. 1993
    ..Similarities between the genomic structure suggest that utrophin and dystrophin arose through an ancient duplication event involving a large region of genomic DNA...
  55. pmc A functional genetic link between distinct developmental language disorders
    Sonja C Vernes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    N Engl J Med 359:2337-45. 2008
    ..Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment...
  56. pmc Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
    Kay D Macdermot
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 76:1074-80. 2005
    ..This endeavor will be crucial for gaining insight into the role of FOXP2 in human cognition...
  57. pmc A genomewide linkage screen for relative hand skill in sibling pairs
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 70:800-5. 2002
    ..13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches...
  58. ncbi Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
    A Sakuntabhai
    The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 21:271-7. 1999
    ..Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis...
  59. pmc Chorea-acanthocytosis: genetic linkage to chromosome 9q21
    J P Rubio
    The Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    Am J Hum Genet 61:899-908. 1997
    ..These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene...
  60. ncbi Autism: recent molecular genetic advances
    J A Lamb
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Mol Genet 9:861-8. 2000
    ..This review focuses on recent molecular investigations to identify susceptibility loci implicated in autistic disorder...
  61. ncbi Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci
    J Gayan
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    J Child Psychol Psychiatry 46:1045-56. 2005
    ....
  62. ncbi Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
    A Bolino
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    Genomics 63:271-8. 2000
    ..Finally, after computer analysis of the 33 ESTs assigned to the 2-Mb interval, we demonstrated that 21 different transcripts as well as 3 known genes might represent potential candidates for the disease...
  63. pmc Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
    C Philippe
    The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Am J Hum Genet 61:520-8. 1997
    ..The missense mutations in EXT1 and EXT2 may pinpoint crucial domains in both proteins and therefore give clues for the understanding of the pathophysiology of this skeletal disorder...
  64. ncbi Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat
    I Y Millwood
    Imperial Cancer Research Fund Human Genetics Laboratory, John Radcliffe Hospital, Headington, Oxford, UK
    Mamm Genome 6:668-9. 1995
  65. ncbi Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK
    Am J Psychiatry 165:1576-84. 2008
    ..In the current study, the authors tested whether the KIAA0319 gene influences reading skills in the general population, rather than having an effect restricted to reading disability...
  66. pmc A common variant associated with dyslexia reduces expression of the KIAA0319 gene
    Megan Y Dennis
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    PLoS Genet 5:e1000436. 2009
    ..Our study thus pinpoints a common variant as altering the function of a dyslexia candidate gene and provides an illustrative example of the strategic approach needed to dissect the molecular basis of complex genetic traits...
  67. pmc Recent advances in the genetics of language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Genome Med 2:6. 2010
    ..We discuss how characterization of these genes, and the pathways in which they are involved, may enhance our understanding of language disorders and improve our understanding of the biological foundations of language acquisition...
  68. pmc MET and autism susceptibility: family and case-control studies
    Ines Sousa
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 17:749-58. 2009
    ..02). The previously reported positive association of rs1858830 failed to replicate in this study. Overall, our findings provide further evidence that MET may play a role in autism susceptibility...
  69. pmc A 15q13.3 microdeletion segregating with autism
    Alistair T Pagnamenta
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 17:687-92. 2009
    ..Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers...
  70. pmc Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford, UK
    Am J Med Genet A 149:588-97. 2009
    ..Nevertheless, it remains possible that variants in the flanking genes may underlie evidence of linkage at this locus...
  71. ncbi Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    Lorne Lonie
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Hum Mutat 27:1160. 2006
    ..This technique was found to be sensitive with a detection rate of 100% regarding heterozygote detection for EXT mutation scanning. Furthermore, this technique has a very high throughput and is very cost-effective...
  72. ncbi Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 12:3225-30. 2003
    ..The linkages may be due to a single maternally imprinted influence on lateralized brain development that contains common functional polymorphisms...
  73. ncbi Genetic influences on language impairment and phonological short-term memory
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
    Trends Cogn Sci 9:528-34. 2005
    ..Identifying those cognitive deficits that work best as indices of heritable phenotypes will help us to uncover the aetiology of developmental disorders...
  74. ncbi Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Psychiatr Genet 12:35-41. 2002
    ..Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics...
  75. ncbi Talking genes - the molecular basis of language impairment
    Dianne F Newbury
    University of Oxford, UK
    Biologist (London) 49:255-60. 2002
    ..Many children acquire language so smoothly that it appears to be an innate ability. If this is true, then it should be possible to identify genes that underlie variations in linguistic abilities...
  76. ncbi Deciphering the genetic basis of speech and language disorders
    Simon E Fisher
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, United Kingdom
    Annu Rev Neurosci 26:57-80. 2003
    ..The molecular genetic approach has potential for dissecting neurological pathways underlying speech and language disorders, but such investigations are only just beginning...
  77. ncbi Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
    J Chelly
    ICRF Laboratories, John Radcliffe Hospital, Headington, Oxford, UK
    Nat Genet 3:14-9. 1993
    ..These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals...
  78. ncbi The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Mol Genet 15:1659-66. 2006
    ..2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex...
  79. pmc Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia
    Sonja C Vernes
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    Eur J Hum Genet 17:1354-8. 2009
    ..However, this was also found in a random control sample. Analyses of non-coding SNP changes did not find any correlation with affection status. We conclude that FOXP1 mutations are unlikely to represent a major cause of DVD...
  80. pmc CMIP and ATP2C2 modulate phonological short-term memory in language impairment
    Dianne F Newbury
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Am J Hum Genet 85:264-72. 2009
    ..This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition...
  81. pmc Use of multivariate linkage analysis for dissection of a complex cognitive trait
    Angela J Marlow
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 72:561-70. 2003
    ..The approach employed here may aid positional cloning of susceptibility genes in a wide spectrum of complex traits...
  82. pmc A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12
    Julian E Asher
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Am J Hum Genet 84:279-85. 2009
    ..This study comprises a significant step toward identifying the genetic substrates underlying synesthesia, with important implications for our understanding of the role of genes in human cognition and perception...
  83. pmc Linkage and candidate gene studies of autism spectrum disorders in European populations
    Richard Holt
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    Eur J Hum Genet 18:1013-9. 2010
    ..008). Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1...
  84. pmc The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway
    Clotilde Levecque
    Wellcome Trust Centre for Human Genetics, Univ of Oxford, Roosevelt D, Oxford OX3 7BN, UK
    Am J Physiol Cell Physiol 297:C160-8. 2009
    ..These results suggest the surface expression of KIAA0319 is regulated by endocytosis, supporting the idea that the internalization and recycling of the protein may be involved in fine tuning its role in neuronal migration...
  85. ncbi The genetic basis of dyslexia
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Lancet Neurol 1:483-90. 2002
    ..These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway...
  86. ncbi Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene
    Carol Dobson-Stone
    The Wellcome Trust Center for Human Genetics, University of Oxford, UK
    J Invest Dermatol 118:338-43. 2002
    ..The extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying genes and/or environmental factors may greatly influence the clinical features of this disease...
  87. ncbi The genetic lexicon of dyslexia
    Silvia Paracchini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Annu Rev Genomics Hum Genet 8:57-79. 2007
    ..Functional studies of these genes are offering new insights about the biological mechanisms underlying the development of dyslexia and, in general, of cognition...
  88. ncbi Alternative splicing in the dyslexia-associated gene KIAA0319
    Antonio Velayos-Baeza
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, UK
    Mamm Genome 18:627-34. 2007
    ..A similar RT-PCR analysis performed in mouse and rat adult brains showed that only some of the alternative splicing variants are equivalent to those found in the human gene...
  89. ncbi Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
    Elena Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Eur J Hum Genet 13:198-207. 2005
    ..Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility...
  90. ncbi Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
    R Nudel
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Genes Brain Behav 13:418-29. 2014
    ..In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders...
  91. pmc Isolation and characterization of a MAGE gene family in the Xp21.3 region
    F Muscatelli
    Imperial Cancer Research Fund Laboratories, John Radcliffe Hospital, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 92:4987-91. 1995
    ..MAGE-Xp is located in the 160-kb critical interval defined for the locus involved in sex determination within Xp21 and is 50 kb distal to the DAX-1 gene, which is responsible for X-chromosome-linked adrenal hypoplasia congenita...
  92. pmc Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region
    S Monk
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, OX3 7BN, United Kingdom
    Am J Hum Genet 62:890-903. 1998
    ..Therefore, this detailed integrated physical, genetic, and partial transcript map provides an important resource for the isolation of the DD gene and, possibly, other disease genes...
  93. ncbi Familial and genetic effects on motor coordination, laterality, and reading-related cognition
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    Am J Psychiatry 160:1970-7. 2003
    ..With a large sample, the authors aimed to investigate genetic relationships between measures of reading-related cognition, hand motor skill, and hand skill lateralization...
  94. ncbi Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis
    Carol Dobson-Stone
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
    Neurogenetics 6:151-8. 2005
    ..The deletion breakpoint PCR described here will enable rapid identification of both homozygous and heterozygous carriers of EX70_EX73del...
  95. ncbi Chorein detection for the diagnosis of chorea-acanthocytosis
    Carol Dobson-Stone
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Ann Neurol 56:299-302. 2004
    ..However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc...
  96. ncbi Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula
    Saeed Bohlega
    King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mov Disord 18:403-7. 2003
    ..Although the clinical presentation was variable, the genetic studies on these three Saudi Arabian families with chorea-acanthocytosis provide strong evidence for a genetic locus for chorea-acanthocytosis at chromosome 9q21...
  97. ncbi SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample
    Francesca Blasi
    Department of Biology, University of Bologna, Bologna, Italy
    Eur J Hum Genet 14:123-6. 2006
    ..Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample...
  98. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  99. ncbi FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder
    Cecilia S L Lai
    Neural Development Unit, Institute of Child Health, University College London, UK
    Brain 126:2455-62. 2003
    ..Overall, this study provides support for the hypothesis that impairments in sequencing of movement and procedural learning might be central to the FOXP2-related speech and language disorder...
  100. ncbi Molecular evolution of FOXP2, a gene involved in speech and language
    Wolfgang Enard
    Max Planck Institute for Evolutionary Anthropology, Inselstrasse 22, D 04103 Leipzig, Germany
    Nature 418:869-72. 2002
    ..Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution...
  101. pmc Confirmatory evidence for linkage of relative hand skill to 2p12-q11
    Clyde Francks
    Am J Hum Genet 72:499-502. 2003