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Articles published in Hum Mutat

Retrieve available abstracts of 29 articles:
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Single Articles


    December 2022
  1. SZERI F, Miko A, Navasiolava N, Kaposi A, et al
    The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
    Hum Mutat. 2022;43:1872-1881.
    PubMed     Abstract available


  2. LANZAFAME M, Nardo T, Ricotti R, Pantaleoni C, et al
    TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
    Hum Mutat. 2022;43:2222-2233.
    PubMed     Abstract available


  3. SAVAGE SA, Jones K, Teshome K, Lori A, et al
    Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
    Hum Mutat. 2022;43:1856-1859.
    PubMed     Abstract available


  4. COLMAN M, Vroman R, Dhooge T, Malfait Z, et al
    Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
    Hum Mutat. 2022;43:1994-2009.
    PubMed     Abstract available


  5. MINATOGAWA M, Hirose T, Mizumoto S, Yamaguchi T, et al
    Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
    Hum Mutat. 2022;43:1829-1836.
    PubMed     Abstract available


  6. VAHIDNEZHAD H, Youssefian L, Harvey N, Tavasoli AR, et al
    Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
    Hum Mutat. 2022;43:1706-1731.
    PubMed     Abstract available


    October 2022
  7. DOUBEN HCW, Nellist M, van Unen L, Elfferich P, et al
    High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
    Hum Mutat. 2022 Oct 17. doi: 10.1002/humu.24487.
    PubMed     Abstract available


  8. XIA B, Biswas K, Foo TK, Gomes TT, et al
    Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
    Hum Mutat. 2022;43:1396-1407.
    PubMed     Abstract available


  9. PEREZ-BECERRIL C, Wallace AJ, Schlecht H, Bowers NL, et al
    Screening of potential novel candidate genes in schwannomatosis patients.
    Hum Mutat. 2022;43:1368-1376.
    PubMed     Abstract available


    September 2022
  10. ZAKHAROVA V, Raykina E, Mersiyanova I, Deordieva E, et al
    Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
    Hum Mutat. 2022 Sep 2. doi: 10.1002/humu.24463.
    PubMed     Abstract available


    July 2022
  11. NATSUGA K, Furuta Y, Takashima S, Nohara T, et al
    Cas9-guided haplotyping of three truncation variants in autosomal recessive disease.
    Hum Mutat. 2022;43:877-881.
    PubMed     Abstract available


  12. DENG F, Evans DG, Smith MJ
    Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
    Hum Mutat. 2022;43:919-927.
    PubMed     Abstract available


  13. JAMES PA, Fortuno C, Li N, Lim BWX, et al
    Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria.
    Hum Mutat. 2022;43:882-888.
    PubMed     Abstract available


    April 2022
  14. RALPH D, Levine MA, Richard G, Morrow M, et al
    Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
    Hum Mutat. 2022 Apr 27. doi: 10.1002/humu.24391.
    PubMed     Abstract available


  15. DEROIN L, Cavalcante de Andrade Silva M, Petras K, Arndt K, et al
    Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
    Hum Mutat. 2022 Apr 14. doi: 10.1002/humu.24374.
    PubMed     Abstract available


  16. NATSUGA K, Furuta Y, Takashima S, Nohara T, et al
    Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long-read sequencing.
    Hum Mutat. 2022;43:529-536.
    PubMed     Abstract available


    November 2021
  17. GHOSH S, Kraus K, Biswas A, Muller J, et al
    GGCX variants leading to biallelic deficiency to gamma-carboxylate GRP cause skin laxity in VKCFD1 patients.
    Hum Mutat. 2021 Nov 24. doi: 10.1002/humu.24300.
    PubMed     Abstract available


  18. RUIZ DE GARIBAY G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, et al
    Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    Hum Mutat. 2021;42:1488-1502.
    PubMed     Abstract available


    October 2021
  19. GUPTA S, Shen W, Jimenez RE, Cheville JC, et al
    Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
    Hum Mutat. 2021;42:1362-1364.
    PubMed    


  20. PEREZ-BECERRIL C, Evans DG, Smith MJ
    Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
    Hum Mutat. 2021;42:1187-1207.
    PubMed     Abstract available


  21. COLMAN M, Syx D, De Wandele I, Dhooge T, et al
    Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
    Hum Mutat. 2021;42:1294-1306.
    PubMed     Abstract available


  22. LOFTUS SK, Lundh L, Watkins-Chow DE, Baxter LL, et al
    A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
    Hum Mutat. 2021;42:1239-1253.
    PubMed     Abstract available


    August 2021
  23. XING C, Kanchwala M, Rios JJ, Hyatt T, et al
    Biallelic variants in RNU12 cause CDAGS syndrome.
    Hum Mutat. 2021;42:1042-1052.
    PubMed     Abstract available


  24. RAJESHWARI M, Karthi S, Singh R, Efthymiou S, et al
    Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
    Hum Mutat. 2021;42:1015-1029.
    PubMed     Abstract available


    June 2021
  25. DHOOGE T, Van Damme T, Syx D, Mosquera LM, et al
    More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
    Hum Mutat. 2021;42:711-730.
    PubMed     Abstract available


    May 2021
  26. GOLDBERG Y, Laitman Y, Ben David M, Bazak L, et al
    Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
    Hum Mutat. 2021;42:592-599.
    PubMed     Abstract available


    March 2021
  27. FELICIO PS, Grasel RS, Campacci N, de Paula AE, et al
    Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
    Hum Mutat. 2021;42:290-299.
    PubMed     Abstract available


    February 2021
  28. SULLIVAN T, Thirthagiri E, Chong CE, Stauffer S, et al
    Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
    Hum Mutat. 2021;42:200-212.
    PubMed     Abstract available


  29. ZHANG Y, Park JY, Zhang F, Olson SH, et al
    The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.
    Hum Mutat. 2021;42:150-163.
    PubMed     Abstract available


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