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Articles published in J Med Genet

Retrieve available abstracts of 13 articles:
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Single Articles


    July 2022
  1. CATASUS N, Garcia B, Galvan-Femenia I, Plana A, et al
    Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
    J Med Genet. 2022;59:678-686.
    PubMed     Abstract available


    February 2022
  2. PINGAULT V, Zerad L, Bertani-Torres W, Bondurand N, et al
    SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
    J Med Genet. 2022;59:105-114.
    PubMed     Abstract available


    January 2022
  3. HU K, Zatyka M, Astuti D, Beer N, et al
    WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
    J Med Genet. 2022;59:65-74.
    PubMed     Abstract available


    October 2021
  4. TERANISHI Y, Miyawaki S, Hongo H, Dofuku S, et al
    Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
    J Med Genet. 2021;58:701-711.
    PubMed     Abstract available


    September 2021
  5. SONG P, Guan Y, Chen X, Wu C, et al
    Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
    J Med Genet. 2021;58:619-627.
    PubMed     Abstract available


    July 2021
  6. GAO X, Huang SS, Qiu SW, Su Y, et al
    Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
    J Med Genet. 2021;58:465-474.
    PubMed     Abstract available


  7. FRANK DN, Giese APJ, Hafren L, Bootpetch TC, et al
    Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
    J Med Genet. 2021;58:442-452.
    PubMed     Abstract available


    March 2021
  8. KIM BJ, Jeon HW, Jeon W, Han JH, et al
    Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
    J Med Genet. 2021 Mar 22. pii: jmedgenet-2020-107594.
    PubMed     Abstract available


  9. JI P, Chang J, Wei X, Song X, et al
    Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population.
    J Med Genet. 2021 Mar 5. pii: jmedgenet-2020-107410.
    PubMed     Abstract available


    January 2021
  10. DE LAAT P, Rodenburg RR, Roeleveld N, Koene S, et al
    Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
    J Med Genet. 2021;58:48-55.
    PubMed     Abstract available


    April 2020
  11. BLANCHON S, Legendre M, Bottier M, Tamalet A, et al
    Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
    J Med Genet. 2020;57:237-244.
    PubMed     Abstract available


    March 2020
  12. KNAPP KM, Sullivan R, Murray J, Gimenez G, et al
    Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
    J Med Genet. 2020;57:195-202.
    PubMed     Abstract available


    February 2020
  13. LUSK L, Black E, Vengoechea J
    Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.
    J Med Genet. 2020;57:121-123.
    PubMed     Abstract available


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