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Clinical Genetics|September 7, 2013
Pathogenic variants in non-protein-coding sequencesP Makrythanasis, S E AntonarakisMolecular Syndromology|January 8, 2013
High-throughput sequencing and rare genetic diseasesP Makrythanasis, S E AntonarakisClinical and Experimental Rheumatology|September 3, 2010
Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutationG Leventopoulos, E Denayer, P Makrythanasis, et al.European Journal of Medical Genetics|October 12, 2010
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopiaS Gimelli, P Makrythanasis, C Stouder, et al.Molecular Syndromology|May 10, 2012
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene ClusterH Fryssira, P Makrythanasis, A Kattamis, et al.Clinical Genetics|May 11, 2007
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitisM Tzetis, M Kaliakatsos, M Fotoulaki, et al.Clinical Genetics|March 19, 2010
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic featuresP Makrythanasis, I Moix, S Gimelli, et al.Clinical Genetics|April 18, 2013
Multiplex targeted high-throughput sequencing for Mendelian cardiac disordersS Fokstuen, P Makrythanasis, S Nikolaev, et al.Neuropediatrics|December 29, 2017
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative DisorderK Varvagiannis, S Hanquinet, M H Billieux, et al.Human Genomics|June 30, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersS Fokstuen, P Makrythanasis, E Hammar, et al.Pageof 2