European Journal of Human Genetics, 1018-4813

Journal

1 - 25 out of 25Page size: 100

Publications

  1. 2021
  2. Published

    Genetic modifiers in rare disorders: the case of fragile X syndrome

    Lucy Wilde, Andrew Beggs, Joanne Stockton, Chris Oliver, Jan 2021, In: European Journal of Human Genetics. 29, 1, p. 173–183 11 p.

    Research output: Contribution to journal › Article › peer-review

  3. 2016
  4. Published

    Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

    Jun 2016, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article › peer-review

  5. Published

    Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

    Douglas Ward, Adam Devall, Nicholas James, KK Cheng, Maurice Zeegers, Nayneeta Deshmukh & Rik Bryan, 13 Jan 2016, In: European Journal of Human Genetics. 24, p. 1167–1174

    Research output: Contribution to journal › Article › peer-review

  6. 2013
  7. Published

    Homozygosity analysis in amyotrophic lateral sclerosis

    Karen Morrison, Dec 2013, In: European Journal of Human Genetics. 21, 12, p. 1429-35 7 p.

    Research output: Contribution to journal › Article › peer-review

  8. 2012
  9. Published

    CNVs leading to fusion transcripts in individuals with autism spectrum disorder

    Jean-Baptiste Cazier, Nov 2012, In: European Journal of Human Genetics. 20, 11, p. 1141-7 7 p.

    Research output: Contribution to journal › Article › peer-review

  10. Published

    Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

    Dewi Astuti & Timothy Barrett, 2012, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article › peer-review

  11. 2011
  12. Published

    Clinical utility gene card for: Alstrom syndrome

    Timothy Barrett, 1 Oct 2011, In: European Journal of Human Genetics. 19, 10

    Research output: Contribution to journal › Editorial

  13. Published

    Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

    Jean-Baptiste Cazier, Jun 2011, In: European Journal of Human Genetics. 19, 6, p. 687-95 9 p.

    Research output: Contribution to journal › Article › peer-review

  14. Published

    von Hippel-Lindau disease: A clinical and scientific review.

    Eamonn Maher, 9 Mar 2011, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  15. Published

    Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon

    Mar 2011, In: European Journal of Human Genetics. 19, 3, p. 334-340 7 p.

    Research output: Contribution to journal › Article › peer-review

  16. Published

    Parents’ and children's communication about genetic risk: a qualitative study, learning from families’ experiences

    Alison Metcalfe, Gillian Plumridge, Andrew Shanks & Paramjit Gill, 16 Feb 2011, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  17. 2010
  18. Published

    A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

    G Neil Thomas, 1 Nov 2010, In: European Journal of Human Genetics. 18, 11, p. 1255-1260 6 p.

    Research output: Contribution to journal › Article

  19. Published

    Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study

    Paul Newby, Jayne Franklyn & Stephen Gough, 1 Sep 2010, In: European Journal of Human Genetics. 18, 9, p. 1021-1026 6 p.

    Research output: Contribution to journal › Article

  20. Published

    Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant.

    Maurice Zeegers, Meena Plappert, 11 Aug 2010, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  21. 2009
  22. Published

    Replication analysis identifies TYKe as a mulitiple sclerosis suscepibility factor

    Jayne Franklyn, 1 Jan 2009, In: European Journal of Human Genetics. 17, 10, p. 1309-13 5 p.

    Research output: Contribution to journal › Article

  23. Published

    Genomics and breast cancer: the different levels of inherited susceptibility

    Andrew Beggs, 2009, In: European Journal of Human Genetics. 17, 7, p. 855-6 2 p.

    Research output: Contribution to journal › Article › peer-review

  24. 2008
  25. Published

    Deciphering the genetics of hereditary non-syndromic colorectal cancer

    1 Dec 2008, In: European Journal of Human Genetics. 16, 12, p. 1477-1486 10 p.

    Research output: Contribution to journal › Article › peer-review

  26. Published

    Feedback control - The role of negative feedback in signal transduction control

    Carina Hellberg, 1 Jul 2008, In: European Journal of Human Genetics. 16, 7, p. 769-770 2 p.

    Research output: Contribution to journal › Editorial

  27. Published

    Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

    Alison Metcalfe, Jane Coad, Gillian Plumridge, Paramjit Gill, 23 Apr 2008, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  28. 2007
  29. Published

    Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

    Colin Johnson & Eamonn Maher, 1 Jan 2007, In: European Journal of Human Genetics. 15, 2, p. 173-178 6 p.

    Research output: Contribution to journal › Article

  30. 2006
  31. Published

    Assessing the pathogenicity of MLH1 missence mutations in patients with suspected Hereditary Non-Polyposis Colorectal Cancer (HNPCC): correlation with clinical, genetic and functional features

    Emilio Porfiri, 17 May 2006, In: European Journal of Human Genetics. 14, p. 853-859 7 p.

    Research output: Contribution to journal › Article

  32. 2005
  33. Published

    Association of the TSHR gene with Graves' disease: the first disease specific locus

    Oliver Brand, Jayne Franklyn & Stephen Gough, 17 Aug 2005, In: European Journal of Human Genetics. 13, p. 1223-1230 8 p.

    Research output: Contribution to journal › Article

  34. Published

    Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

    Wendy Cooper, 6 Jul 2005, In: European Journal of Human Genetics. 13, p. 1025-1032 8 p.

    Research output: Contribution to journal › Article

  35. 2004
  36. Published

    Founder mutations among the Dutch

    Maurice Zeegers, 1 Oct 2004, In: European Journal of Human Genetics. 2004, 12, p. 591-600 10 p.

    Research output: Contribution to journal › Article

  37. 2003
  38. Published

    The deleted in colorectal carcinoma (DCC) gene 201 R>G polymorphism: no evidence for genetic association with autoimmune disease

    Heward King & Stephen Gough, 1 Nov 2003, In: European Journal of Human Genetics. 11, 11, p. 840-844 5 p.

    Research output: Contribution to journal › Article