Biomedical Research Foundation Academy Of AthensAcademy Of Athens
Scientific Personnel

Periklis Periklis Makrythanasis, MD, PhD
Investigator - Associate Professor Level

Telephone : +30 210 6597 465
e-mail : pmakrythanasis@bioacademy.gr


Center :

Systems Biology


Selected Publications

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 Mar;26(3):330-339.

Fokstuen S*, Makrythanasis P*, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Hum Genomics. 2016 Jun 28;10(1):24.

Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016 Apr 7;98(4):615-26

Hamamy H*, Makrythanasis P*, Al-Allawi N, Muhsin AA, Antonarakis SE. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. BMC Med Genet. 2014 Dec 17;15(1):135.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat. 2014 Oct;35(10):1203-10

Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. Hum Mutat. 2014 Aug;35(8):959-63.

Santoni FA, Makrythanasis P, Nikolaev S, Guipponi M, Robyr D, Bottani A, Antonarakis SE. Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res. 2014 Feb;24(2):349-55

Makrythanasis P, van Bon B, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid B, Arts P, Bhat M, Augello B, Biamino E, Bongers E, Del Campo M, Cordeiro I, Cueto-González A, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman S, Hoyer J, Yntema H, Kets C, Koolen D, Marcelis C, Medeira A, Micale L, Mohammed S, de Munnik S, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos H, Schoumans J, Schuurs-Hoeijmakers J, Silengo M, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath R, Perez-Jurado L, Dupont J, de Vries B, Brunner H, Veltman J, Merla G, Antonarakis S, Hoischen A. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013 Dec;84(6):539-45

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res. 2013 Sep;23(9):1410-21

Makrythanasis P, Tzetis M, Rapti A, Papatheodorou A, Tsiipi M, Kitsiou S, Tsiamouri A, Poulou M, Roussos C, Kanavakis E. Cystic Fibrosis Conductance Regulator, Tumor Necrosis Factor, Interferon Alpha-10, Interferon Alpha-17, and Interferon Gamma Genotyping as Potential Risk Markers in Pulmonary Sarcoidosis Pathogenesis in Greek Patients.  Genetic Testing and Molecular Biomarkers, 2010 Aug; 14(4):577-84

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