| Passive and active DNA methylation and the interplay with genetic variation in gene regulation M Gutierrez-Arcelus, T Lappalainen, SB Montgomery, A Buil, H Ongen, ... elife 2, e00523, 2013 | 510 | 2013 |
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing M Gutierrez-Arcelus, H Ongen, T Lappalainen, SB Montgomery, A Buil, ... PLoS genetics 11 (1), e1004958, 2015 | 239 | 2015 |
| Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ... The American Journal of Human Genetics 93 (2), 346-356, 2013 | 182 | 2013 |
| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy F Picard, P Makrythanasis, V Navarro, S Ishida, J de Bellescize, D Ville, ... Neurology 82 (23), 2101-2106, 2014 | 163 | 2014 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 121 | 2013 |
| Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia P Makrythanasis, M Kato, MS Zaki, H Saitsu, K Nakamura, FA Santoni, ... The American Journal of Human Genetics 98 (4), 615-626, 2016 | 93 | 2016 |
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma S Nikolaev, F Santoni, M Garieri, P Makrythanasis, E Falconnet, ... Nature communications 5 (1), 5690, 2014 | 93 | 2014 |
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 91 | 2014 |
| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations VRC Eggens, PG Barth, JMF Niermeijer, JN Berg, N Darin, A Dixit, J Fluss, ... Orphanet journal of rare diseases 9, 1-10, 2014 | 90 | 2014 |
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome MR Sailani, P Makrythanasis, A Valsesia, FA Santoni, S Deutsch, ... Genome research 23 (9), 1410-1421, 2013 | 89 | 2013 |
| A novel homozygous mutation in FGFR 3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly P Makrythanasis, S Temtamy, MS Aglan, GA Otaify, H Hamamy, ... Human mutation 35 (8), 959-963, 2014 | 85 | 2014 |
| 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 P Callier, P Calvel, A Matevossian, P Makrythanasis, P Bernard, ... PLoS genetics 10 (5), e1004340, 2014 | 79 | 2014 |
| Biallelic variants in KIF14 cause intellectual disability with microcephaly P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ... European journal of human genetics 26 (3), 330-339, 2018 | 67 | 2018 |
| Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy M Assoum, C Philippe, B Isidor, L Perrin, P Makrythanasis, N Sondheimer, ... The American Journal of Human Genetics 99 (6), 1368-1376, 2016 | 64 | 2016 |
| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders H Fairfield, A Srivastava, G Ananda, R Liu, M Kircher, A Lakshminarayana, ... Genome research 25 (7), 948-957, 2015 | 62 | 2015 |
| Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent … M Tzetis, M Kaliakatsos, M Fotoulaki, A Papatheodorou, S Doudounakis, ... Clinical genetics 71 (5), 451-457, 2007 | 61 | 2007 |
| Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease A Syrmou, M Tzetis, H Fryssira, K Kosma, V Oikonomakis, K Giannikou, ... Pediatric research 73 (6), 772-776, 2013 | 55 | 2013 |
| Pathogenic variants in non‐protein‐coding sequences P Makrythanasis, SE Antonarakis Clinical genetics 84 (5), 422-428, 2013 | 51 | 2013 |
| DNA-methylation patterns in trisomy 21 using cells from monozygotic twins MR Sailani, FA Santoni, A Letourneau, C Borel, P Makrythanasis, ... PloS one 10 (8), e0135555, 2015 | 50 | 2015 |
| Soluble endothelial adhesion molecules and inflammation markers in patients with â-thalassemia intermedia I Kanavaki, P Makrythanasis, C Lazaropoulou, M Tsironi, A Kattamis, ... Blood Cells, Molecules, and Diseases 43 (3), 230-234, 2009 | 50 | 2009 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
