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Articles published in PLoS Genet

Retrieve available abstracts of 20 articles:
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Single Articles


    February 2020
  1. WADA Y, Kikuchi A, Kaga A, Shimizu N, et al
    Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
    PLoS Genet. 2020;16:e1008628.
    PubMed     Abstract available


    August 2019
  2. MOYE AR, Bedoni N, Cunningham JG, Sanzhaeva U, et al
    Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
    PLoS Genet. 2019;15:e1008315.
    PubMed     Abstract available


    July 2019
  3. JIANG SY, Tang JJ, Xiao X, Qi W, et al
    Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
    PLoS Genet. 2019;15:e1008289.
    PubMed     Abstract available


    May 2019
  4. GARNAI SJ, Brinkmeier ML, Emery B, Aleman TS, et al
    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
    PLoS Genet. 2019;15:e1008130.
    PubMed     Abstract available


    April 2019
  5. TIOSANO D, Baris HN, Chen A, Hitzert MM, et al
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
    PLoS Genet. 2019;15:e1008088.
    PubMed     Abstract available


    March 2019
  6. MAKELAINEN S, Godia M, Hellsand M, Viluma A, et al
    An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
    PLoS Genet. 2019;15:e1007873.
    PubMed     Abstract available


  7. HANDLEY MT, Reddy K, Wills J, Rosser E, et al
    ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
    PLoS Genet. 2019;15:e1007605.
    PubMed     Abstract available


  8. PETERKA M, Kornmann B
    Miro-dependent mitochondrial pool of CENP-F and its farnesylated C-terminal domain are dispensable for normal development in mice.
    PLoS Genet. 2019;15:e1008050.
    PubMed     Abstract available


    January 2019
  9. HANOVICE NJ, Leach LL, Slater K, Gabriel AE, et al
    Regeneration of the zebrafish retinal pigment epithelium after widespread genetic ablation.
    PLoS Genet. 2019;15:e1007939.
    PubMed     Abstract available


    October 2018
  10. DEANE-COE PE, Chu ET, Slavney A, Boyko AR, et al
    Direct-to-consumer DNA testing of 6,000 dogs reveals 98.6-kb duplication associated with blue eyes and heterochromia in Siberian Huskies.
    PLoS Genet. 2018;14:e1007648.
    PubMed     Abstract available


    August 2018
  11. LI L, Jiao X, D'Atri I, Ono F, et al
    Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
    PLoS Genet. 2018;14:e1007504.
    PubMed     Abstract available


  12. PALU RAS, Chow CY
    Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response.
    PLoS Genet. 2018;14:e1007557.
    PubMed     Abstract available


  13. DUCHESNE A, Vaiman A, Frah M, Floriot S, et al
    Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
    PLoS Genet. 2018;14:e1007550.
    PubMed     Abstract available


    March 2018
  14. PAYLAKHI S, Labelle-Dumais C, Tolman NG, Sellarole MA, et al
    Muller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.
    PLoS Genet. 2018;14:e1007244.
    PubMed     Abstract available


  15. HOCKING JC, Famulski JK, Yoon KH, Widen SA, et al
    Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
    PLoS Genet. 2018;14:e1007246.
    PubMed     Abstract available


    February 2018
  16. CAPORALI L, Iommarini L, La Morgia C, Olivieri A, et al
    Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
    PLoS Genet. 2018;14:e1007210.
    PubMed     Abstract available


    January 2018
  17. KING R, Struebing FL, Li Y, Wang J, et al
    Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.
    PLoS Genet. 2018;14:e1007145.
    PubMed     Abstract available


  18. SAKAKIBARA Y, Sekiya M, Fujisaki N, Quan X, et al
    Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.
    PLoS Genet. 2018;14:e1007196.
    PubMed     Abstract available


    December 2017
  19. WEI W, Gomez-Duran A, Hudson G, Chinnery PF, et al
    Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
    PLoS Genet. 2017;13:e1007126.
    PubMed     Abstract available


    August 2017
  20. JUSTICE ED, Barnum SJ, Kidd T
    The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.
    PLoS Genet. 2017;13:e1006865.
    PubMed     Abstract available


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