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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: makrythanasis p. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
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.
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.
Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, Robyr D, Munoz A, Bevillard J, Farinelli L, Iseli C, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: makrythanasis p. Clin Genet. 2014 Apr;85(4):365-70. doi: 10.1111/cge.12168. Epub 2013 May 13. Clin Genet. 2014. PMID: 23590259
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Among authors: makrythanasis p. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 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.
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