Antonarakis, Stylianos

 
 
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2016

Scientific Articles

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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replicationSeplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyAssoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeJoshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeMakrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersFokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune CellsChen, Lu; Delaneau, Olivier; Dermitzakis, Emmanouil; Antonarakis, Stylianos;
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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinomaBonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich
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HGVS Recommendations for the Description of Sequence Variants: 2016 Updateden Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaMakrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko
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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) MutationNicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit;
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processingFerreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael
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The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and DiscoveryStunnenberg, Hendrik G; Hirst, Martin; Antonarakis, Stylianos;

Thesis supervisions

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Genomic characterization of basal cell carcinoma of the skinBonilla Bustillo, Ximena;

2015

Scientific Articles

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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisCalvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga
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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; ... Brusco, Alfredo
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Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic InterventionsPule, Gift Dineo; Ngo Bitoungui, Valentina Josiane; Chetcha Chemegni, Bernard; Kengne, Andre Pascal; ... Wonkam, Ambroise
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Biased allelic expression in human primary fibroblast single cellsBorel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos
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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegenerationMurray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean
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CATCHing putative causative variants in consanguineous familiesSantoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos;
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsSailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos
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Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersFairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; ... Reinholdt, Laura G
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Familial epilepsy in Algeria: Clinical features and inheritance profilesChentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos
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Galanin pathogenic mutations in temporal lobe epilepsyGuipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos
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HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporationRosa, Annachiara; Chande, Ajit; Ziglio, Serena; De Sanctis, Veronica; ... Pizzato, Massimo
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES CellsLetourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos
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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeRivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; ... Antonarakis, Stylianos
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Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App regionBrault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann
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Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa
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The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotypeDieudonne, François-Xavier; O’Connor, Patrick B. F.; Jaquier-Gubler, Pascale; Yasrebi, Haleh; ... Curran, Joseph
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicingGutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil

2014

Scientific Articles

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A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactylyMakrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos
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Analysis of the Born in Bradford birth cohortMakrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos; Mauron, Alex; Hurst, Samia
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Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndromeSahún, Ignasi; Marechal, Damien; Pereira, Patricia Lopes; Nalesso, Valérie; ... Herault, Yann
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Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Santoni, Federico; ... Feki, Anis
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsyPicard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesMakrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan
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Domains of genome-wide gene expression dysregulation in Down's syndromeLetourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos
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Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesGuipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos
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Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaGannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André
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Extrachromosomal driver mutations in glioblastoma and low-grade gliomaNikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos
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Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutationsNikolaev, Sergey Igorievich; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; ... Antonarakis, Stylianos
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Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in HumansPopadin, Konstantin; Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Buil Demur, Alfonso Alberto; ... Antonarakis, Stylianos
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Guidelines for investigating causality of sequence variants in human diseaseMacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; ... Gunter, C
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