Charles Shaw-Smith

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
    Charles Shaw-Smith
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Eur J Med Genet 53:6-13. 2010
  2. ncbi Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Genet 38:1032-7. 2006
  3. ncbi Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature
    Charles Shaw-Smith
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Clin Dysmorphol 14:155-8. 2005
  4. pmc 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
    Lionel Willatt
    Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 77:154-60. 2005
  5. ncbi Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
  6. pmc Review of genetic factors in intestinal malrotation
    Vicki Martin
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Pediatr Surg Int 26:769-81. 2010
  7. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
  8. doi Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  9. pmc DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
    Michael C Zody
    Broad Institute of MIT and Harvard, 7 Cambridge Center, Massachusetts 02142, USA
    Nature 440:1045-9. 2006
  10. ncbi Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields
    Subu Subramonia-Iyer
    Public Health Genetics Unit, Cambridge, United Kingdom
    Genet Med 9:74-9. 2007

Detail Information

Publications10

  1. pmc Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
    Charles Shaw-Smith
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Eur J Med Genet 53:6-13. 2010
    ..This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway...
  2. ncbi Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Genet 38:1032-7. 2006
    ..The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination...
  3. ncbi Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature
    Charles Shaw-Smith
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Clin Dysmorphol 14:155-8. 2005
    ..7%) had height on or below the 0.4th centile, while nine (50%) had height on or below the 10th centile. We suggest that short stature is likely to be a phenotypic feature of Feingold syndrome...
  4. pmc 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
    Lionel Willatt
    Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 77:154-60. 2005
    ..The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome...
  5. ncbi Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
    ..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
  6. pmc Review of genetic factors in intestinal malrotation
    Vicki Martin
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Pediatr Surg Int 26:769-81. 2010
    ....
  7. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
    ..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
  8. doi Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  9. pmc DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
    Michael C Zody
    Broad Institute of MIT and Harvard, 7 Cambridge Center, Massachusetts 02142, USA
    Nature 440:1045-9. 2006
    ..Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome...
  10. ncbi Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields
    Subu Subramonia-Iyer
    Public Health Genetics Unit, Cambridge, United Kingdom
    Genet Med 9:74-9. 2007
    ..This paper reports the results of an evaluation of this emerging technology and discusses the challenges faced in conducting the evaluation...