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Efficient targeted transcript discovery via array-based normalization of RACE libraries.
Djebali S, Kapranov P, Foissac S, Lagarde J, Reymond A, Ucla C, Wyss C, Drenkow J, Dumais E, Murray RR, Lin C, Szeto D, Denoeud F, Calvo M, Frankish A, Harrow J, Makrythanasis P, Vidal M, Salehi-Ashtiani K, Antonarakis SE, Gingeras TR, Guigó R. Djebali S, et al. Among authors: makrythanasis p. Nat Methods. 2008 Jul;5(7):629-35. doi: 10.1038/nmeth.1216. Epub 2008 May 25. Nat Methods. 2008. PMID: 18500348 Free PMC article.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Among authors: makrythanasis p. Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14. Expert Rev Mol Diagn. 2023. PMID: 36714946
High-throughput sequencing and rare genetic diseases.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293577 Free PMC article.
Pathogenic variants in non-protein-coding sequences.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Clin Genet. 2013 Nov;84(5):422-8. doi: 10.1111/cge.12272. Epub 2013 Sep 23. Clin Genet. 2013. PMID: 24007299 Review.
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
Nikolaev S, Santoni F, Garieri M, Makrythanasis P, Falconnet E, Guipponi M, Vannier A, Radovanovic I, Bena F, Forestier F, Schaller K, Dutoit V, Clement-Schatlo V, Dietrich PY, Antonarakis SE. Nikolaev S, et al. Among authors: makrythanasis p. Nat Commun. 2014 Dec 4;5:5690. doi: 10.1038/ncomms6690. Nat Commun. 2014. PMID: 25471132 Free PMC article.
CATCHing putative causative variants in consanguineous families.
Santoni FA, Makrythanasis P, Antonarakis SE. Santoni FA, et al. Among authors: makrythanasis p. BMC Bioinformatics. 2015 Sep 28;16:310. doi: 10.1186/s12859-015-0727-5. BMC Bioinformatics. 2015. PMID: 26415661 Free PMC article.
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Stamoulis G, et al. Among authors: makrythanasis p. Nat Commun. 2019 Oct 3;10(1):4495. doi: 10.1038/s41467-019-12273-8. Nat Commun. 2019. PMID: 31582743 Free PMC article.
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