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Articles published in Hum Mutat

Retrieve available abstracts of 16 articles:
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Single Articles


    July 2020
  1. GORLOV IP, Amos CI, Tsavachidis S, Begg C, et al
    Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanoma.
    Hum Mutat. 2020 Jul 9. doi: 10.1002/humu.24078.
    PubMed     Abstract available


    January 2020
  2. VAHIDNEZHAD H, Youssefian L, Sotoudeh S, Liu L, et al
    Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
    Hum Mutat. 2020 Jan 12. doi: 10.1002/humu.23980.
    PubMed     Abstract available


    September 2019
  3. CLINE MS, Babbi G, Bonache S, Cao Y, et al
    Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
    Hum Mutat. 2019;40:1546-1556.
    PubMed     Abstract available


  4. VOSKANIAN A, Katsonis P, Lichtarge O, Pejaver V, et al
    Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
    Hum Mutat. 2019;40:1612-1622.
    PubMed     Abstract available


  5. PADILLA N, Moles-Fernandez A, Riera C, Montalban G, et al
    BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
    Hum Mutat. 2019;40:1593-1611.
    PubMed     Abstract available


    July 2019
  6. BALLIN N, Hotz A, Bourrat E, Kusel J, et al
    Genetical, clinical and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
    Hum Mutat. 2019 Jul 26. doi: 10.1002/humu.23883.
    PubMed     Abstract available


    May 2019
  7. TAVERA-TAPIA A, de la Hoya M, Calvete O, Martin-Gimeno P, et al
    RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
    Hum Mutat. 2019;40:566-577.
    PubMed     Abstract available


    December 2018
  8. YOUSSEFIAN L, Vahidnezhad H, Saeidian AH, Touati A, et al
    Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
    Hum Mutat. 2018 Dec 22. doi: 10.1002/humu.23695.
    PubMed     Abstract available


    November 2018
  9. YOUSSEFIAN L, Vahidnezhad H, Saeidian AH, Mahmoudi H, et al
    A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma.
    Hum Mutat. 2018 Nov 15. doi: 10.1002/humu.23686.
    PubMed     Abstract available


    July 2018
  10. HOTZ A, Bourrat E, Kusel J, Oji V, et al
    Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hum Mutat. 2018 Jul 16. doi: 10.1002/humu.23594.
    PubMed     Abstract available


    February 2018
  11. MORI T, Yousefzadeh MJ, Faridounnia M, Chong JX, et al
    ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
    Hum Mutat. 2018;39:255-265.
    PubMed     Abstract available


    September 2017
  12. VENET T, Masson E, Talbotec C, Billiemaz K, et al
    Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
    Hum Mutat. 2017 Sep 25. doi: 10.1002/humu.23343.
    PubMed     Abstract available


    April 2017
  13. BOHM J, Bulla M, Urquhart JE, Malfatti E, et al
    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
    Hum Mutat. 2017;38:426-438.
    PubMed     Abstract available


  14. NELLEN RG, Steijlen PM, van Steensel MA, Vreeburg M, et al
    Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
    Hum Mutat. 2017;38:343-356.
    PubMed     Abstract available


    March 2017
  15. SAMUEL N, Id Said B, Guha T, Novokmet A, et al
    Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk.
    Hum Mutat. 2017;38:265-268.
    PubMed     Abstract available


    June 2016
  16. CHEN W, Perritt AF, Morissette R, Dreiling JL, et al
    Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
    Hum Mutat. 2016 Jun 14. doi: 10.1002/humu.23028.
    PubMed     Abstract available


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