Santoni, Federico

 
 
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2015

Scientific Articles

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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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Biased allelic expression in human primary fibroblast single cellsBorel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos
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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 disordersSrivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; Al Hamami, Hanan; ... Reinholdt, Laura G
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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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Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight InfantAnderson De La Llana, Sabrina; Klee, Philippe; Santoni, Federico; Stekelenburg, Caroline; ... Schwitzgebel Luscher, Valérie
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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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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

2014

Scientific Articles

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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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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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Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and SignalingCallier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge
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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disordersFokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis
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Next generation diagnostics on cardiomyopathyBlouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterSantoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos
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