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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Among authors: makrythanasis p. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.
Kanaki Z, Voutsina A, Markou A, Pateras IS, Potaris K, Avgeris M, Makrythanasis P, Athanasiadis EI, Vamvakaris I, Patsea E, Vachlas K, Lianidou E, Georgoulias V, Kotsakis A, Klinakis A. Kanaki Z, et al. Among authors: makrythanasis p. Cancers (Basel). 2021 May 18;13(10):2446. doi: 10.3390/cancers13102446. Cancers (Basel). 2021. PMID: 34070013 Free PMC article.
Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations.
Fedirko V, Mandle HB, Zhu W, Hughes DJ, Siddiq A, Ferrari P, Romieu I, Riboli E, Bueno-de-Mesquita B, van Duijnhoven FJB, Siersema PD, Tjønneland A, Olsen A, Perduca V, Carbonnel F, Boutron-Ruault MC, Kühn T, Johnson T, Krasimira A, Trichopoulou A, Makrythanasis P, Thanos D, Panico S, Krogh V, Sacerdote C, Skeie G, Weiderpass E, Colorado-Yohar S, Sala N, Barricarte A, Sanchez MJ, Quirós R, Amiano P, Gylling B, Harlid S, Perez-Cornago A, Heath AK, Tsilidis KK, Aune D, Freisling H, Murphy N, Gunter MJ, Jenab M. Fedirko V, et al. Among authors: makrythanasis p. Nutrients. 2019 Aug 20;11(8):1954. doi: 10.3390/nu11081954. Nutrients. 2019. PMID: 31434255 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.
84 results