Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
Garieri, Marco, Stamoulis, Georgios, Blanc, Xavier, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.
Published in Proceedings of the National Academy of Sciences - PNAS (18.12.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (18.12.2018)
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation
Gutierrez-Arcelus, Maria, Lappalainen, Tuuli, Montgomery, Stephen B, Buil, Alfonso, Ongen, Halit, Yurovsky, Alisa, Bryois, Julien, Giger, Thomas, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Padioleau, Ismael, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E, Dermitzakis, Emmanouil T
Published in eLife (04.06.2013)
Published in eLife (04.06.2013)
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Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
Santoni, Federico A., Stamoulis, Georgios, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Antonarakis, Stylianos E.
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing
Gutierrez-Arcelus, Maria, Ongen, Halit, Lappalainen, Tuuli, Montgomery, Stephen B, Buil, Alfonso, Yurovsky, Alisa, Bryois, Julien, Padioleau, Ismael, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Giger, Thomas, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E, Dermitzakis, Emmanouil T
Published in PLoS genetics (01.01.2015)
Published in PLoS genetics (01.01.2015)
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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
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.
Published in Nature communications (03.10.2019)
Published in Nature communications (03.10.2019)
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Biased Allelic Expression in Human Primary Fibroblast Single Cells
Borel, Christelle, Ferreira, Pedro G., Santoni, Federico, Delaneau, Olivier, Fort, Alexandre, Popadin, Konstantin Y., Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Guipponi, Michel, Padioleau, Ismael, Carninci, Piero, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E.
Published in American journal of human genetics (08.01.2015)
Published in American journal of human genetics (08.01.2015)
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Nikolaev, Sergey, Santoni, Federico, Garieri, Marco, Makrythanasis, Periklis, Falconnet, Emilie, Guipponi, Michel, Vannier, Anne, Radovanovic, Ivan, Bena, Frederique, Forestier, Françoise, Schaller, Karl, Dutoit, Valerie, Clement-Schatlo, Virginie, Dietrich, Pierre-Yves, Antonarakis, Stylianos E.
Published in Nature communications (04.12.2014)
Published in Nature communications (04.12.2014)
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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome
Gaspar, Ludmila, Howald, Cedric, Popadin, Konstantin, Maier, Bert, Mauvoisin, Daniel, Moriggi, Ermanno, Gutierrez-Arcelus, Maria, Falconnet, Emilie, Borel, Christelle, Kunz, Dieter, Kramer, Achim, Gachon, Frederic, Dermitzakis, Emmanouil T, Antonarakis, Stylianos E, Brown, Steven A
Published in eLife (04.09.2017)
Published in eLife (04.09.2017)
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Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts
Borel, Christelle, Deutsch, Samuel, Letourneau, Audrey, Migliavacca, Eugenia, Montgomery, Stephen B, Dimas, Antigone S, Vejnar, Charles E, Attar, Homa, Gagnebin, Maryline, Gehrig, Corinne, Falconnet, Emilie, Dupré, Yann, Dermitzakis, Emmanouil T, Antonarakis, Stylianos E
Published in Genome research (01.01.2011)
Published in Genome research (01.01.2011)
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Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications
Coppola, Antonietta, Romito, Antonio, Borel, Christelle, Gehrig, Corinne, Gagnebin, Maryline, Falconnet, Emilie, Izzo, Antonella, Altucci, Lucia, Banfi, Sandro, Antonarakis, Stylianos E., Minchiotti, Gabriella, Cobellis, Gilda
Published in Stem cell research (01.03.2014)
Published in Stem cell research (01.03.2014)
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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, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Vannier, Anne, Guipponi, Michel, Carninci, Piero, Borel, Christelle, Antonarakis, Stylianos E
Published in PloS one (08.05.2015)
Published in PloS one (08.05.2015)
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Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation
Gutierrez-Arcelus, Maria, Lappalainen, Tuuli, Montgomery, Stephen B, Buil, Alfonso, Ongen, Halit, Yurovsky, Alisa, Bryois, Julien, Giger, Thomas, Romano, Luciana, Planchon, Alexandra, Falconnet, Emilie, Bielser, Deborah, Gagnebin, Maryline, Padioleau, Ismael, Borel, Christelle, Letourneau, Audrey, Makrythanasis, Periklis, Guipponi, Michel, Gehrig, Corinne, Antonarakis, Stylianos E, Dermitzakis, Emmanouil T
Published in eLife (14.06.2013)
Published in eLife (14.06.2013)
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DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D., Bartoloni, Lucia, Blouin, Jean-Louis
Published in Respiration (01.01.2008)
Published in Respiration (01.01.2008)
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Landscape of transcription in human cells
Djebali, Sarah, Davis, Carrie A., Merkel, Angelika, Dobin, Alex, Lassmann, Timo, Mortazavi, Ali, Tanzer, Andrea, Lagarde, Julien, Lin, Wei, Schlesinger, Felix, Xue, Chenghai, Marinov, Georgi K., Khatun, Jainab, Williams, Brian A., Zaleski, Chris, Rozowsky, Joel, Röder, Maik, Kokocinski, Felix, Abdelhamid, Rehab F., Alioto, Tyler, Antoshechkin, Igor, Baer, Michael T., Bar, Nadav S., Batut, Philippe, Bell, Kimberly, Bell, Ian, Chakrabortty, Sudipto, Chen, Xian, Chrast, Jacqueline, Curado, Joao, Derrien, Thomas, Drenkow, Jorg, Dumais, Erica, Dumais, Jacqueline, Duttagupta, Radha, Falconnet, Emilie, Fastuca, Meagan, Fejes-Toth, Kata, Ferreira, Pedro, Foissac, Sylvain, Fullwood, Melissa J., Gao, Hui, Gonzalez, David, Gordon, Assaf, Gunawardena, Harsha, Howald, Cedric, Jha, Sonali, Johnson, Rory, Kapranov, Philipp, King, Brandon, Kingswood, Colin, Luo, Oscar J., Park, Eddie, Persaud, Kimberly, Preall, Jonathan B., Ribeca, Paolo, Risk, Brian, Robyr, Daniel, Sammeth, Michael, Schaffer, Lorian, See, Lei-Hoon, Shahab, Atif, Skancke, Jorgen, Suzuki, Ana Maria, Takahashi, Hazuki, Tilgner, Hagen, Trout, Diane, Walters, Nathalie, Wang, Huaien, Wrobel, John, Yu, Yanbao, Ruan, Xiaoan, Hayashizaki, Yoshihide, Harrow, Jennifer, Gerstein, Mark, Hubbard, Tim, Reymond, Alexandre, Antonarakis, Stylianos E., Hannon, Gregory, Giddings, Morgan C., Ruan, Yijun, Wold, Barbara, Carninci, Piero, Guigó, Roderic, Gingeras, Thomas R.
Published in Nature (London) (06.09.2012)
Published in Nature (London) (06.09.2012)
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Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
Nikolaev, Sergey I., Santoni, Federico, Vannier, Anne, Falconnet, Emilie, Giarin, Emanuela, Basso, Giuseppe, Hoischen, Alexander, Veltman, Joris A., Groet, Jurgen, Nizetic, Dean, Antonarakis, Stylianos E.
Published in Blood (25.07.2013)
Published in Blood (25.07.2013)
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
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.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
Nikolaev, Sergey I., Garieri, Marco, Santoni, Federico, Falconnet, Emilie, Ribaux, Pascale, Guipponi, Michel, Murray, Aoife, Groet, Jürgen, Giarin, Emanuela, Basso, Giuseppe, Nizetic, Dean, Antonarakis, Stylianos E.
Published in Nature communications (08.08.2014)
Published in Nature communications (08.08.2014)
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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
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
Published in Human molecular genetics (01.08.2018)
Published in Human molecular genetics (01.08.2018)
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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
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
Published in Human molecular genetics (15.03.2019)
Published in Human molecular genetics (15.03.2019)
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
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.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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