| unige:42277 | A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly | Makrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos |
| unige:34276 | Analysis of the Born in Bradford birth cohort | Makrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos; Mauron, Alex; Hurst, Samia |
| unige:37943 | DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy | Picard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie |
| unige:42302 | Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan |
| unige:42299 | Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André |
| unige:55178 | EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations | Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank |
| unige:44227 | Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos |
| unige:36344 | Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge |
| unige:34519 | Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis |
| unige:42303 | Next generation diagnostics on cardiomyopathy | Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv |
| unige:77288 | Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report | Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos |
| unige:34230 | Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos |
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