2020

Scientific Articles

unige:143479	De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M
unige:142242	Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos

2018

Scientific Articles

unige:100052	Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos
unige:108120	Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv
unige:123733	Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother	Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane

2017

Scientific Articles

unige:92651	Defining categories of actionability for secondary findings in next-generation sequencing	Moret, Céline; Mauron, Alex; Fokstuen, Siv; Makrythanasis, Periklis; Hurst, Samia
unige:98395	Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors	Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich

2016

Scientific Articles

unige:90730	Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy	Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien
unige:85502	Choking Fits During Sleep Related to Epilepsy	Makrythanasis, Periklis; Behr, Charles; Baulac, Stéphanie; Hirsch, Edouard; Picard, Fabienne
unige:88995	Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos
unige:88998	Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos
unige:88999	Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko

Privat-docent Thesis

unige:91164

Research of pathogenic mutations in the human genome through the study of consanguineous families

Makrythanasis, Periklis;

2015

Scientific Articles

unige:78097	A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga
unige:78004	CATCHing putative causative variants in consanguineous families	Santoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos;
unige:77402	DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos
unige:77377	Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; Al Hamami, Hanan; ... Reinholdt, Laura G
unige:77359	Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil

2014

Scientific Articles

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

2013

Scientific Articles

unige:33908	Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M.
unige:34514	Passive and active DNA methylation and the interplay with genetic variation in gene regulation	Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil
unige:34329	Pathogenic variants in non-protein-coding sequences	Makrythanasis, Periklis; Antonarakis, Stylianos;
unige:34338	The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos

Professional Articles

unige:34633

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A

2012

Scientific Articles

unige:34656

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand

Professional Articles

unige:34639

High-throughput sequencing and rare genetic diseases

Makrythanasis, Periklis; Antonarakis, Stylianos;

2011

Scientific Articles

unige:34667	A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique
unige:34662	From sequence to functional understanding: the difficult road ahead	Makrythanasis, Periklis; Antonarakis, Stylianos;

2010

Scientific Articles

unige:21106	De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand
unige:21269	Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion	Rougemont-Pidoux, Anne-Laure; Makrythanasis, Periklis; Finci, Vildana; Billieux, Marie-Hélène; ... Fokstuen, Siv

2009

Scientific Articles

unige:8879

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos

2008

Scientific Articles

unige:9167

Efficient targeted transcript discovery via array-based normalization of RACE libraries

Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic