Periklis Makrythanasis

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

María Gutiérrez‐Arcelus, Tuuli Lappalainen, Stephen B. Montgomery et al. · eLife · 2013 · 478 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

María Gutiérrez‐Arcelus, Halit Ongen, Tuuli Lappalainen et al. · PLoS Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark et al. · The American Journal of Human Genetics · 2013 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

Fabienne Picard, Periklis Makrythanasis, Vincent Navarro et al. · Neurology · 2014 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17