Periklis Makrythanasis
Title
Cited by
Cited by
Year
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
3602013
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 Genet 11 (1), e1004958, 2015
1612015
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
1452013
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
1112014
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
892013
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), 1-10, 2014
732014
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
732014
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
652016
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
572013
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
552014
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 Genet 10 (5), e1004340, 2014
542014
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
522007
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
402015
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
S Nikolaev, F Santoni, M Garieri, P Makrythanasis, E Falconnet, ...
Nature communications 5 (1), 1-7, 2014
402014
Efficient targeted transcript discovery via array-based normalization of RACE libraries
S Djebali, P Kapranov, S Foissac, J Lagarde, A Reymond, C Ucla, C Wyss, ...
Nature methods 5 (7), 629, 2008
402008
Soluble endothelial adhesion molecules and inflammation markers in patients with β-thalassemia intermedia
I Kanavaki, P Makrythanasis, C Lazaropoulou, M Tsironi, A Kattamis, ...
Blood Cells, Molecules, and Diseases 43 (3), 230-234, 2009
392009
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
382015
Pathogenic variants in non‐protein‐coding sequences
P Makrythanasis, SE Antonarakis
Clinical genetics 84 (5), 422-428, 2013
362013
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
FA Santoni, P Makrythanasis, S Nikolaev, M Guipponi, D Robyr, A Bottani, ...
Genome research 24 (2), 349-355, 2014
352014
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
342016
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