HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency von Santoni, Federico A, Guerra, Jessica, Luban, Jeremy

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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma von Bonilla, Ximena, Parmentier, Laurent, King, Bryan, Bezrukov, Fedor, Kaya, Gürkan, Zoete, Vincent, Seplyarskiy, Vladimir B, Sharpe, Hayley J, McKee, Thomas, Letourneau, Audrey, Ribaux, Pascale G, Popadin, Konstantin, Basset-Seguin, Nicole, Chaabene, Rouaa Ben, Santoni, Federico A, Andrianova, Maria A, Guipponi, Michel, Garieri, Marco, Verdan, Carole, Grosdemange, Kerstin, Sumara, Olga, Eilers, Martin, Aifantis, Iannis, Michielin, Olivier, de Sauvage, Frederic J, Antonarakis, Stylianos E, Nikolaev, Sergey I

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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome von Porcu, Eleonora, Sadler, Marie C., Lepik, Kaido, Auwerx, Chiara, Wood, Andrew R., Weihs, Antoine, Sleiman, Maroun S. Bou, Ribeiro, Diogo M., Bandinelli, Stefania, Tanaka, Toshiko, Nauck, Matthias, Völker, Uwe, Delaneau, Olivier, Metspalu, Andres, Teumer, Alexander, Frayling, Timothy, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán

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Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression von Santoni, Federico A., Stamoulis, Georgios, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Antonarakis, Stylianos E.

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Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts von Garieri, Marco, Stamoulis, Georgios, Blanc, Xavier, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins von Sailani, M Reza, Santoni, Federico A, Letourneau, Audrey, Borel, Christelle, Makrythanasis, Periklis, Hibaoui, Youssef, Popadin, Konstantin, Bonilla, Ximena, Guipponi, Michel, Gehrig, Corinne, Vannier, Anne, Carre-Pigeon, Frederique, Feki, Anis, Nizetic, Dean, Antonarakis, Stylianos E

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Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes von Guipponi, Michel, Santoni, Federico A, Setola, Vincent, Gehrig, Corinne, Rotharmel, Maud, Cuenca, Macarena, Guillin, Olivier, Dikeos, Dimitris, Georgantopoulos, Georgios, Papadimitriou, George, Curtis, Logos, Méary, Alexandre, Schürhoff, Franck, Jamain, Stéphane, Avramopoulos, Dimitri, Leboyer, Marion, Rujescu, Dan, Pulver, Ann, Campion, Dominique, Siderovski, David P, Antonarakis, Stylianos E

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia von Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letourneau, Audrey, Logan, Clare V., Roberts, Nicola, Parry, David A., Johnson, Colin A., Matsumoto, Naomichi, Hamamy, Hanan, Sheridan, Eamonn, Kinoshita, Taroh, Antonarakis, Stylianos E., Murakami, Yoshiko

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CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications von Rapti, Melivoia, Zouaghi, Yassine, Meylan, Jenny, Ranza, Emmanuelle, Antonarakis, Stylianos E, Santoni, Federico A

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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 von Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Sailani, M Reza, Dahoun, Sophie, Santoni, Federico A, Gimelli, Stefania, Guipponi, Michel, Pelte, Marie Françoise, Béna, Frédérique, Antonarakis, Stylianos E, Feki, Anis

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GnRH replacement rescues cognition in Down syndrome von Manfredi-Lozano, Maria, Leysen, Valerie, Adamo, Michela, Paiva, Isabel, Rovera, Renaud, Pignat, Jean-Michel, Timzoura, Fatima Ezzahra, Candlish, Michael, Eddarkaoui, Sabiha, Malone, Samuel A, Silva, Mauro S B, Trova, Sara, Imbernon, Monica, Decoster, Laurine, Cotellessa, Ludovica, Tena-Sempere, Manuel, Claret, Marc, Paoloni-Giacobino, Ariane, Plassard, Damien, Paccou, Emmanuelle, Vionnet, Nathalie, Acierno, James, Maceski, Aleksandra Maleska, Lutti, Antoine, Pfrieger, Frank, Rasika, S, Santoni, Federico, Boehm, Ulrich, Ciofi, Philippe, Buée, Luc, Haddjeri, Nasser, Boutillier, Anne-Laurence, Kuhle, Jens, Messina, Andrea, Draganski, Bogdan, Giacobini, Paolo, Pitteloud, Nelly, Prevot, Vincent

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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm von De Iaco, Alberto, Santoni, Federico, Vannier, Anne, Guipponi, Michel, Antonarakis, Stylianos, Luban, Jeremy

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HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation von Rosa, Annachiara, Chande, Ajit, Ziglio, Serena, De Sanctis, Veronica, Bertorelli, Roberto, Goh, Shih Lin, McCauley, Sean M., Nowosielska, Anetta, Antonarakis, Stylianos E., Luban, Jeremy, Santoni, Federico Andrea, Pizzato, Massimo

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance von Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.

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Fasting induces metabolic switches and spatial redistributions of lipid processing and neuronal interactions in tanycytes von Brunner, Maxime, Lopez-Rodriguez, David, Estrada-Meza, Judith, Dali, Rafik, Rohrbach, Antoine, Deglise, Tamara, Messina, Andrea, Thorens, Bernard, Santoni, Federico, Langlet, Fanny

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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) von Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A, Antonarakis, Stylianos E, Brussino, Alessandro, Brusco, Alfredo

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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency von Ansar, Muhammad, Ranza, Emmanuelle, Shetty, Madhur, Paracha, Sohail A, Azam, Maleeha, Kern, Ilse, Iwaszkiewicz, Justyna, Farooq, Omer, Pournaras, Constantin J, Malcles, Ariane, Kecik, Mateusz, Rivolta, Carlo, Muzaffar, Waqar, Qurban, Aziz, Ali, Liaqat, Aggoun, Yacine, Santoni, Federico A, Makrythanasis, Periklis, Ahmed, Jawad, Qamar, Raheel, Sarwar, Muhammad T, Henry, L Keith, Antonarakis, Stylianos E

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Deciphering the code for retroviral integration target site selection von Santoni, Federico Andrea, Hartley, Oliver, Luban, Jeremy

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Limited evidence for blood eQTLs in human sexual dimorphism von Porcu, Eleonora, Claringbould, Annique, Weihs, Antoine, Lepik, Kaido, Richardson, Tom G, Völker, Uwe, Santoni, Federico A, Teumer, Alexander, Franke, Lude, Reymond, Alexandre, Kutalik, Zoltán

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The effect of genetic variation on promoter usage and enhancer activity von Garieri, Marco, Delaneau, Olivier, Santoni, Federico, Fish, Richard J., Mull, David, Carninci, Piero, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E., Fort, Alexandre

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