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• De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

  Tarailo-Graovac M, Zahir FR, Zivkovic I, Moksa M, Selby K, Sinha S, Nislow C, Stockler-Ipsiroglu SG, Sheffer R, Saada-Reisch A, Friedman JM, van Karnebeek CDM, Horvath GA. Tarailo-Graovac M, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00961. doi: 10.1002/mgg3.961. Epub 2019 Sep 1. Mol Genet Genomic Med. 2019. PMID: 31475481 Free PMC article.
• Identification of human D lactate dehydrogenase deficiency.

  Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
• Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

  Shakiba M, Keramatipour M. Shakiba M, et al. Iran J Child Neurol. 2018 Winter;12(1):7-15. Iran J Child Neurol. 2018. PMID: 29379558 Free PMC article. Review.
• Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

  Behera S, Catreux S, Rossi M, Truong S, Huang Z, Ruehle M, Visvanath A, Parnaby G, Roddey C, Onuchic V, Cameron DL, English A, Mehtalia S, Han J, Mehio R, Sedlazeck FJ. Behera S, et al. bioRxiv [Preprint]. 2024 Jan 6:2024.01.02.573821. doi: 10.1101/2024.01.02.573821. bioRxiv. 2024. PMID: 38260545 Free PMC article. Preprint.
• The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

  Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. Delanne J, et al. Mol Genet Metab Rep. 2021 Oct 18;29:100812. doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712575 Free PMC article. Review.