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.
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.
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.
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.
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.
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.
留言 (0)