Human Mutation, 1059-7794

Journal

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Publications

  1. Article › Research › Not peer-reviewed
  2. Published

    A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene

    Derek Lim & Eamonn Maher, 1 Jan 2010, In: Human Mutation. 31, 1, p. E1043-E1051

    Research output: Contribution to journal › Article

  3. Published

    Birt Hogg-Dubé syndrome associated FLCN mutations disrupt protein stability.

    Anne Reiman, Derek Lim, Xiaohong Lu, Farida Latif & Eamonn Maher, 28 Apr 2011, In: Human Mutation.

    Research output: Contribution to journal › Article

  4. Published

    Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)

    Christopher Bruce, Timothy Barrett, Eamonn Maher & Paul Gissen, 1 Jul 2010, In: Human Mutation. 31, 7, p. 858-865 8 p.

    Research output: Contribution to journal › Article

  5. Published

    Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Vivek Dhir, Wiebke Arlt & Nils Krone, 1 Feb 2009, In: Human Mutation. 30, 2, p. E443-50

    Research output: Contribution to journal › Article

  6. Published

    Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

    Esther Meyer, Eamonn Maher, 1 May 2009, In: Human Mutation. 30, 5, p. E629-E639

    Research output: Contribution to journal › Article

  7. Published

    Genotype-phenotype correlations in von Hippel-Lindau disease

    Emma Woodward & Eamonn Maher, 1 Feb 2007, In: Human Mutation. 28, 2, p. 143-149 7 p.

    Research output: Contribution to journal › Article

  8. Published

    Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

    Anne Reiman, Venkataramanan Srinivasan, Philip Byrd & Malcolm Taylor, 8 Apr 2009, In: Human Mutation. 30, 8, p. 1222-1230 9 p.

    Research output: Contribution to journal › Article

  9. Published

    Molecular analysis of the glyoxlate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

    1 Jan 2003, In: Human Mutation. 22, 6, p. 497-500 4 p.

    Research output: Contribution to journal › Article

  10. Published

    Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

    Anna Straatman-Iwanowska & 2 others, Eamonn Maher & Paul Gissen, 1 Jan 2008, In: Human Mutation. p. n/a-n/a

    Research output: Contribution to journal › Article

  11. Published

    Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

    James Last, 1 Mar 2012, In: Human Mutation. 33, 3, p. 561-571 11 p.

    Research output: Contribution to journal › Article

  12. Published

    Tumor Risks and Genotype-Phenotype-Proteotype Analysis in 358 Patients With Germline Mutations in SDHB and SDHD

    Christopher Ricketts, Emma Woodward & 7 others, & Eamonn Maher, 1 Jan 2010, In: Human Mutation. 31, 1, p. 41-51 11 p.

    Research output: Contribution to journal › Article

  13. Published

    WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

    Farhat Khanim, Farida Latif & Timothy Barrett, 1 May 2001, In: Human Mutation. 17, 5, p. 357-367 11 p.

    Research output: Contribution to journal › Article

  14. Article › Research › Peer-reviewed
  15. Published

    A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

    Abdullah Khan & Neil Morgan, 28 Oct 2020, In: Human Mutation. 41, 11, p. 1848-1865

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

  16. Published

    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

    Anna Straatman-Iwanowska, Blerida Banushi, Christopher Bruce, Hakan Cangul & 4 others, , Paul Gissen & Steve Watson, 2012, In: Human Mutation. 33, 12, p. 1656-64 9 p.

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

  17. Cancer Genetics May Aid Diagnostics of Developmental Disorders

    Oct 2016, In: Human Mutation. 37, 10, p. 989

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

  18. Published

    Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

    Apr 2011, In: Human Mutation. 32, 4, p. E2069-78

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

  19. Published

    Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

    Niki Karavitaki, Aug 2010, In: Human Mutation. 31, 8, p. 950-60 11 p.

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

  20. Published

    MCM3AP and POMP mutations cause a DNA-repair and DNA-damage-signaling defect in an immunodeficient child

    Susanne Gatz, Mar 2016, In: Human Mutation. 37, 3, p. 257-268 12 p.

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

  21. Published

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia

    Dewi Astuti, Malgosia Zatyka & 14 others, , Renuka Dias & Timothy Barrett, Jul 2017, In: Human Mutation. 38, 7, p. 764-777

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

  22. Published

    Mouse genetic and phenotypic resources for human genetics

    Georgios Gkoutos, 1 May 2012, In: Human Mutation. 33, 5, p. 826-836 11 p.

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

  23. Published

    MouseFinder: Candidate disease genes from mouse phenotype data

    Georgios Gkoutos, 1 May 2012, In: Human Mutation. 33, 5, p. 858-866 9 p.

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

  24. Published

    Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

    Danai Bem & 15 others, , John Graham, Eamonn Maher & Irene Aligianis, May 2013, In: Human Mutation. 34, 5, p. 686-96 11 p.

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

  25. Published

    Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

    Nils Krone, 2005, In: Human Mutation. 25, 5, p. 443-52 10 p.

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

  26. Published

    Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

    Nils Krone, 2005, In: Human Mutation. 25, 5, p. 502-3 2 p.

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

  27. Published

    UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

    Christopher Ricketts, Mark Morris, Andrew Turnell, Eamonn Maher & Emma Woodward, 1 Dec 2013, In: Human Mutation. 34, 12, p. 1650-1661

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