| | Title | Authors / Editors | Date |
|
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 |
2020 |
|
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 |
2020 |
|
unige:144664 |
Chromatin three-dimensional interactions mediate genetic effects on gene expression |
Delaneau, Olivier; Zazhytska, M; Borel, Christelle; Giannuzzi, G; ... Dermitzakis, Emmanouil |
2019 |
|
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 |
2018 |
|
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 |
2018 |
|
unige:109602 |
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing |
Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge |
2018 |
|
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 |
2018 |
|
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 |
2017 |
|
unige:98401 |
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy |
Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian |
2017 |
|
unige:97043 |
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients |
Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos |
2017 |
|
unige:100026 |
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells |
Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi |
2017 |
|
unige:112641 |
The effect of genetic variation on promoter usage and enhancer activity |
Garieri, Marco; Delaneau, Olivier; Santoni, Federico; Fish, Richard; ... Fort, Alexandre |
2017 |
|
unige:112668 |
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome |
Gaspar, Ludmila; Howald, Cédric; Popadin, Konstantin; Maier, Bert; ... Brown, Steven A |
2017 |
|
unige:112678 |
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets |
Fort, Alexandre; Panousis, Nikolaos; Garieri, Marco; Antonarakis, Stylianos; ... Delaneau, Olivier |
2017 |
|
unige:88981 |
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing |
Ferreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael |
2016 |
|
unige:88992 |
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome |
Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James |
2016 |
|
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 |
2016 |
|
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 |
2016 |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
unige:89001 |
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication |
Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich |
2016 |
|
unige:89005 |
HGVS Recommendations for the Description of Sequence Variants: 2016 Update |
den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M |
2016 |
|
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 |
2016 |
|
unige:79366 |
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation |
Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit |
2016 |
|
unige:84469 |
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma |
Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich |
2016 |
|
unige:76397 |
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 |
Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa |
2015 |
|
unige:77355 |
Biased allelic expression in human primary fibroblast single cells |
Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos |
2015 |
|
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 |
2015 |
|
unige:77363 |
Galanin pathogenic mutations in temporal lobe epilepsy |
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos |
2015 |
|
unige:77369 |
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration |
Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean |
2015 |
|
unige:77371 |
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 |
2015 |
|
unige:77373 |
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region |
Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; ... Herault, Yann |
2015 |
|
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 |
2015 |
|
unige:77394 |
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells |
Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos |
2015 |
|
unige:77402 |
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins |
Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos |
2015 |
|
unige:77405 |
Familial epilepsy in Algeria: Clinical features and inheritance profiles |
Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; ... Antonarakis, Stylianos |
2015 |
|
unige:78098 |
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation |
Rosa, Annachiara; Chande, Ajit; Ziglio, Serena; De Sanctis, Veronica; ... Pizzato, Massimo |
2015 |
|
unige:78593 |
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype |
Dieudonne, François-Xavier; O’Connor, Patrick B. F.; Jaquier-Gubler, Pascale; Yasrebi, Haleh; ... Curran, Joseph |
2015 |
|
unige:78000 |
Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions |
Pule, Gift Dineo; Ngo Bitoungui, Valentina Josiane; Chetcha Chemegni, Bernard; Kengne, Andre Pascal; ... Wonkam, Ambroise |
2015 |
|
unige:78004 |
CATCHing putative causative variants in consanguineous families |
Santoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos |
2015 |
|
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 |
2015 |
|
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 |
2014 |
|
unige:34519 |
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis |
2014 |
|
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 |
2014 |
|
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 |
2014 |
|
unige:77289 |
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 |
Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Santoni, Federico; ... Feki, Anis |
2014 |
|
unige:44366 |
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans |
Popadin, Konstantin; Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Buil Demur, Alfonso Alberto; ... Antonarakis, Stylianos |
2014 |
|
unige:44227 |
Extrachromosomal driver mutations in glioblastoma and low-grade glioma |
Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos |
2014 |
|
unige:37943 |
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy |
Picard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie |
2014 |
|
unige:42268 |
Domains of genome-wide gene expression dysregulation in Down's syndrome |
Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos |
2014 |
|
unige:42272 |
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome |
Sahún, Ignasi; Marechal, Damien; Pereira, Patricia Lopes; Nalesso, Valérie; ... Herault, Yann |
2014 |
Antonarakis, Stylianos
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