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

av Santoni, Federico A, Guerra, Jessica, Luban, Jeremy
Publicerad 2012

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

av Porcu, Eleonora, Rüeger, Sina, Lepik, Kaido, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán
I publikationen Nat Commun (2019)

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

av Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Santoni, Federico A., Antonarakis, Stylianos E., Feki, Anis
I publikationen Genom Data (2014)

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

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

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

av Santoni, Federico A., Stamoulis, Georgios, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Antonarakis, Stylianos E.
I publikationen Am J Hum Genet (2017)

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

av Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
I publikationen Hum Genomics (2016)

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

av 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
Publicerad 2014

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

av 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.
I publikationen PLoS One (2015)

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

av Ansar, Muhammad, Chung, Hyunglok, Waryah, Yar M, Makrythanasis, Periklis, Falconnet, Emilie, Rao, Ali Raza, Guipponi, Michel, Narsani, Ashok K, Fingerhut, Ralph, Santoni, Federico A, Ranza, Emmanuelle, Waryah, Ali M, Bellen, Hugo J, Antonarakis, Stylianos E
I publikationen Hum Mol Genet (2018)

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

av Ansar, Muhammad, Paracha, Sohail Aziz, Serretti, Alessandro, Sarwar, Muhammad T, Khan, Jamshed, Ranza, Emmanuelle, Falconnet, Emilie, Iwaszkiewicz, Justyna, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Santoni, Federico A, Zoete, Vincent, Megarbane, Andre, Ahmed, Jawad, Colombo, Roberto, Makrythanasis, Periklis, Antonarakis, Stylianos E
I publikationen Hum Mol Genet (2019)

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

av 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.
I publikationen PLoS One (2014)

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

av 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.
I publikationen PLoS One (2015)

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

av 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
I publikationen Am J Hum Genet (2016)

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

av Ansar, Muhammad, Chung, Hyung-lok, Taylor, Rachel L., Nazir, Aamir, Imtiaz, Samina, Sarwar, Muhammad T., Manousopoulou, Alkistis, Makrythanasis, Periklis, Saeed, Sondas, Falconnet, Emilie, Guipponi, Michel, Pournaras, Constantin J., Ansari, Maqsood A., Ranza, Emmanuelle, Santoni, Federico A., Ahmed, Jawad, Shah, Inayat, Gul, Khitab, Black, Graeme CM., Bellen, Hugo J., Antonarakis, Stylianos E.
I publikationen Am J Hum Genet (2018)

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

av Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A., Adams, Darius J., Lai, Abbe, Pais, Lynn, Iwaszkiewicz, Justyna, Millan, Francisca, Sarwar, Muhammad T., Agha, Zehra, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Falconnet, Emilie, Zoete, Vincent, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico A., Ahmed, Jawad, Katsanis, Nicholas, Walsh, Christopher, Davis, Erica E., Antonarakis, Stylianos E.
I publikationen Am J Hum Genet (2019)

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

av 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
I publikationen Hum Mol Genet (2020)

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

av 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
I publikationen Haematologica (2020)

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

av Ansar, Muhammad, Chung, Hyung-lok, Al-Otaibi, Ali, Elagabani, Mohammad Nael, Ravenscroft, Thomas A., Paracha, Sohail A., Scholz, Ralf, Abdel Magid, Tayseer, Sarwar, Muhammad T., Shah, Sayyed Fahim, Qaisar, Azhar Ali, Makrythanasis, Periklis, Marcogliese, Paul C., Kamsteeg, Erik-Jan, Falconnet, Emilie, Ranza, Emmanuelle, Santoni, Federico A., Aldhalaan, Hesham, Al-Asmari, Ali, Faqeih, Eissa Ali, Ahmed, Jawad, Kornau, Hans-Christian, Bellen, Hugo J., Antonarakis, Stylianos E.
I publikationen Am J Hum Genet (2019)

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

av 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.
Publicerad 2013

Biallelic variants in KIF14 cause intellectual disability with microcephaly

av 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.
I publikationen Eur J Hum Genet (2018)