Cornelis A Albers

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 44:435-9, S1-2. 2012
  2. pmc Dindel: accurate indel calls from short-read data
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1HH, United Kingdom
    Genome Res 21:961-73. 2011
  3. pmc Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:735-7. 2011
  4. pmc Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
    Dirk S Paul
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 23:1130-41. 2013
  5. pmc SMIM1 underlies the Vel blood group and influences red blood cell traits
    Ana Cvejic
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 45:542-5. 2013
  6. doi New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Curr Opin Genet Dev 23:316-23. 2013
  7. pmc The variant call format and VCFtools
    Petr Danecek
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Bioinformatics 27:2156-8. 2011
  8. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
  9. pmc Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011

Collaborators

Detail Information

Publications9

  1. pmc Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 44:435-9, S1-2. 2012
    ..Our data implicate Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome...
  2. pmc Dindel: accurate indel calls from short-read data
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1HH, United Kingdom
    Genome Res 21:961-73. 2011
    ..The algorithm is implemented in the program Dindel, which has been used in the 1000 Genomes Project call sets...
  3. pmc Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:735-7. 2011
    ..Silencing of nbeal2 in zebrafish abrogated thrombocyte formation...
  4. pmc Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
    Dirk S Paul
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 23:1130-41. 2013
    ..Our findings demonstrate that combining large-scale GWA data with open chromatin profiles of relevant cell types can be a powerful means of dissecting the genetic architecture of closely related quantitative traits. ..
  5. pmc SMIM1 underlies the Vel blood group and influences red blood cell traits
    Ana Cvejic
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 45:542-5. 2013
    ..Our findings are of immediate relevance, as the homozygous presence of the deletion allows the unequivocal identification of Vel-negative blood donors...
  6. doi New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Curr Opin Genet Dev 23:316-23. 2013
    ..We discuss TAR syndrome in the context of abnormal phenotypes associated with proximal and distal 1q21.1 microdeletion and microduplications with incomplete penetrance and variable expressivity. ..
  7. pmc The variant call format and VCFtools
    Petr Danecek
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Bioinformatics 27:2156-8. 2011
    ..VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API...
  8. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    ..These methods and public data will support the next phase of human genetic research...
  9. pmc Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011
    ..These observations suggest considerable variation in mutation rates within and between families...