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Novel ITPA variants identified by whole genome sequencing and RNA sequencing – Journal of Human Genetics


  • Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. npj Genom Med. 2018;3:1–10.

    Article 
    CAS 

    Google Scholar
     

  • Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017;8:1–11.

    Article 

    Google Scholar
     

  • Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Genotype-Tissue Expression Consortium. Sci Transl Med. 2016;5209:1–12.


    Google Scholar
     

  • Brechtmann F, Mertes C, Matusevičiūtė A, Yépez VA, Avsec Ž, Herzog M, et al. OUTRIDER: a statistical method for detecting aberrantly expressed genes in RNA sequencing data. Am J Hum Genet. 2018;103:907–17.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, et al. Recessive ITPA mutations cause an early infantile encephalopathy. Ann Neurol. 2015;78:649–58.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet. 2002;111:360–7.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;43:403–19.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, et al. ITPase deficiency causes a martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLoS Genet. 2019;15:1–23.

    Article 

    Google Scholar
     

  • Behmanesh M, Sakumi K, Abolhassani N, Toyokuni S, Oka S, Ohnishi YN, et al. ITPase-deficient mice show growth retardation and die before weaning. Cell Death Differ. 2009;16:1315–22.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kim S, Cho C-S, Han K, Lee J. Structural variation of Alu element and human disease. Genom Inf. 2016;14:70–7.

    Article 

    Google Scholar
     

  • Pascarella G, Hon CC, Hashimoto K, Busch A, Luginbühl J, Parr C, et al. Recombination of repeat elements generates somatic complexity in human genomes. Cell. 2022;185:3025–3040.e6.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, et al. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat. 2021;42:1422–8.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 2022;14:1–26.

    Article 

    Google Scholar
     



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