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Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.
Nat Med. 2023.
PMID: 37291213
Free PMC article.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J.
Van Bergen NJ, et al. Among authors: semcesen ln.
Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582.
Int J Mol Sci. 2023.
PMID: 36834994
Free PMC article.
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Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
Kumar R, Corbett MA, Smith NJC, Hock DH, Kikhtyak Z, Semcesen LN, Morimoto A, Lee S, Stroud DA, Gleeson JG, Haan EA, Gecz J.
Kumar R, et al. Among authors: semcesen ln.
NPJ Genom Med. 2022 Jan 28;7(1):9. doi: 10.1038/s41525-021-00277-7.
NPJ Genom Med. 2022.
PMID: 35091571
Free PMC article.
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