HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency

por Santoni, Federico A, Guerra, Jessica, Luban, Jeremy
Publicado 2012

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

por Porcu, Eleonora, Rüeger, Sina, Lepik, Kaido, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán
Publicado 2019

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

por Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Santoni, Federico A., Antonarakis, Stylianos E., Feki, Anis
Publicado 2014

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

por Rapti, Melivoia, Zouaghi, Yassine, Meylan, Jenny, Ranza, Emmanuelle, Antonarakis, Stylianos E, Santoni, Federico A
Publicado 2022

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

por Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.
Publicado 2014

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

por Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Publicado 2016

Limited evidence for blood eQTLs in human sexual dimorphism

por Porcu, Eleonora, Claringbould, Annique, Weihs, Antoine, Lepik, Kaido, Richardson, Tom G., Völker, Uwe, Santoni, Federico A., Teumer, Alexander, Franke, Lude, Reymond, Alexandre, Kutalik, Zoltán
Publicado 2022

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

por 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
Publicado 2014

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

por 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.
Publicado 2015

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

por Rao, Ali Raza, Nazir, Aamir, Imtiaz, Samina, Paracha, Sohail Aziz, Waryah, Yar Muhammad, Ujjan, Ikram Din, Anwar, Ijaz, Iqbal, Afia, Santoni, Federico A., Shah, Inayat, Gul, Khitab, Baig, Hafiz Muhammad Azhar, Waryah, Ali Muhammad, Antonarakis, Stylianos E., Ansar, Muhammad
Publicado 2023

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

por 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
Publicado 2021

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

por 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.
Publicado 2014

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

por 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.
Publicado 2015

Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma

por Thorball, Christian W., Oudot-Mellakh, Tiphaine, Ehsan, Nava, Hammer, Christian, Santoni, Federico A., Niay, Jonathan, Costagliola, Dominique, Goujard, Cécile, Meyer, Laurence, Wang, Sophia S., Hussain, Shehnaz K., Theodorou, Ioannis, Cavassini, Matthias, Rauch, Andri, Battegay, Manuel, Hoffmann, Matthias, Schmid, Patrick, Bernasconi, Enos, Günthard, Huldrych F., Mohammadi, Pejman, McLaren, Paul J., Rabkin, Charles S., Besson, Caroline, Fellay, Jacques
Publicado 2020

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

por Sailani, M. Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A., Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J., Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A., Estivill, Xavier, Delabar, Jean M., Antonarakis, Stylianos E.
Publicado 2013

Biallelic variants in KIF14 cause intellectual disability with microcephaly

por Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
Publicado 2018

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

por Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Publicado 2018

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

por Fairfield, Heather, Srivastava, Anuj, Ananda, Guruprasad, Liu, Rangjiao, Kircher, Martin, Lakshminarayana, Anuradha, Harris, Belinda S., Karst, Son Yong, Dionne, Louise A., Kane, Coleen C., Curtain, Michelle, Berry, Melissa L., Ward-Bailey, Patricia F., Greenstein, Ian, Byers, Candice, Czechanski, Anne, Sharp, Jocelyn, Palmer, Kristina, Gudis, Polyxeni, Martin, Whitney, Tadenev, Abby, Bogdanik, Laurent, Pratt, C. Herbert, Chang, Bo, Schroeder, David G., Cox, Gregory A., Cliften, Paul, Milbrandt, Jeffrey, Murray, Stephen, Burgess, Robert, Bergstrom, David E., Donahue, Leah Rae, Hamamy, Hanan, Masri, Amira, Santoni, Federico A., Makrythanasis, Periklis, Antonarakis, Stylianos E., Shendure, Jay, Reinholdt, Laura G.
Publicado 2015

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

por Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly
Publicado 2018