Search Results - "Lafaille, Fabien"

The human gene damage index as a gene-level approach to prioritizing exome variants by Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, Casanova, Jean-Laurent

“…The protein-coding exome of a patient with a monogenic disease contains about 20,000 variants, only one or two of which are disease causing. We found that 58%…”
Get full text

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells by Lafaille, Fabien G., Pessach, Itai M., Zhang, Shen-Ying, Ciancanelli, Michael J., Herman, Melina, Abhyankar, Avinash, Ying, Shui-Wang, Keros, Sotirios, Goldstein, Peter A., Mostoslavsky, Gustavo, Ordovas-Montanes, Jose, Jouanguy, Emmanuelle, Plancoulaine, Sabine, Tu, Edmund, Elkabetz, Yechiel, Al-Muhsen, Saleh, Tardieu, Marc, Schlaeger, Thorsten M., Daley, George Q., Abel, Laurent, Casanova, Jean-Laurent, Studer, Lorenz, Notarangelo, Luigi D.

“…Neurons and oligodendrocytes differentiated from induced pluripotent stem cells (iPSCs) of patients with inherited TLR3 and UNC-93B deficiencies are found to…”
Get full text

Severe influenza pneumonitis in children with inherited TLR3 deficiency by Lim, Hye Kyung, Huang, Sarah X L, Chen, Jie, Kerner, Gaspard, Gilliaux, Olivier, Bastard, Paul, Dobbs, Kerry, Hernandez, Nicholas, Goudin, Nicolas, Hasek, Mary L, García Reino, Eduardo Javier, Lafaille, Fabien G, Lorenzo, Lazaro, Luthra, Priya, Kochetkov, Tatiana, Bigio, Benedetta, Boucherit, Soraya, Rozenberg, Flore, Vedrinne, Catherine, Keller, Michael D, Itan, Yuval, García-Sastre, Adolfo, Celard, Marie, Orange, Jordan S, Ciancanelli, Michael J, Meyts, Isabelle, Zhang, Qian, Abel, Laurent, Notarangelo, Luigi D, Snoeck, Hans-Willem, Casanova, Jean-Laurent, Zhang, Shen-Ying

“…Autosomal recessive IRF7 and IRF9 deficiencies impair type I and III IFN immunity and underlie severe influenza pneumonitis. We report three unrelated children…”
Get full text

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency by Ciancanelli, Michael J., Huang, Sarah X. L., Luthra, Priya, Garner, Hannah, Itan, Yuval, Volpi, Stefano, Lafaille, Fabien G., Trouillet, Céline, Schmolke, Mirco, Albrecht, Randy A., Israelsson, Elisabeth, Lim, Hye Kyung, Casadio, Melina, Hermesh, Tamar, Lorenzo, Lazaro, Leung, Lawrence W., Pedergnana, Vincent, Boisson, Bertrand, Okada, Satoshi, Picard, Capucine, Ringuier, Benedicte, Troussier, Françoise, Chaussabel, Damien, Abel, Laurent, Pellier, Isabelle, Notarangelo, Luigi D., García-Sastre, Adolfo, Basler, Christopher F., Geissmann, Frédéric, Zhang, Shen-Ying, Snoeck, Hans-Willem, Casanova, Jean-Laurent

“…Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the…”
Get full text

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection by Zhang, Shen-Ying, Clark, Nathaniel E., Freije, Catherine A., Pauwels, Elodie, Taggart, Allison J., Okada, Satoshi, Mandel, Hanna, Garcia, Paula, Ciancanelli, Michael J., Biran, Anat, Lafaille, Fabien G., Tsumura, Miyuki, Cobat, Aurélie, Luo, Jingchuan, Volpi, Stefano, Zimmer, Bastian, Sakata, Sonoko, Dinis, Alexandra, Ohara, Osamu, Garcia Reino, Eduardo J., Dobbs, Kerry, Hasek, Mary, Holloway, Stephen P., McCammon, Karen, Hussong, Stacy A., DeRosa, Nicholas, Van Skike, Candice E., Katolik, Adam, Lorenzo, Lazaro, Hyodo, Maki, Faria, Emilia, Halwani, Rabih, Fukuhara, Rie, Smith, Gregory A., Galvan, Veronica, Damha, Masad J., Al-Muhsen, Saleh, Itan, Yuval, Boeke, Jef D., Notarangelo, Luigi D., Studer, Lorenz, Kobayashi, Masao, Diogo, Luisa, Fairbrother, William G., Abel, Laurent, Rosenberg, Brad R., Hart, P. John, Etzioni, Amos, Casanova, Jean-Laurent

“…Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from…”
Get full text

TLR3 deficiency in herpes simplex encephalitis: High allelic heterogeneity and recurrence risk by Lim, Hye Kyung, Seppänen, Mikko, Hautala, Timo, Ciancanelli, Michael J, Itan, Yuval, Lafaille, Fabien G, Dell, William, Lorenzo, Lazaro, Byun, Minji, Pauwels, Elodie, Rönnelid, Ylva, Cai, Xin, Boucherit, Soraya, Jouanguy, Emmanuelle, Paetau, Anders, Lebon, Pierre, Rozenberg, Flore, Tardieu, Marc, Abel, Laurent, Yildiran, Alisan, Vergison, Anne, Roivainen, Reina, Etzioni, Amos, Tienari, Pentti J, Casanova, Jean-Laurent, Zhang, Shen-Ying

“…OBJECTIVE:To determine the proportion of children with herpes simplex encephalitis (HSE) displaying TLR3 deficiency, the extent of TLR3 allelic heterogeneity,…”
Get full text

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia by Zeltner, Nadja, Fattahi, Faranak, Dubois, Nicole C, Saurat, Nathalie, Lafaille, Fabien, Shang, Lei, Zimmer, Bastian, Tchieu, Jason, Soliman, Mohamed A, Lee, Gabsang, Casanova, Jean-Laurent, Studer, Lorenz

“…Using induced pluripotent stem cells from patients with familial dysautonomia, the authors show that in vitro models can recapitulate patient-specific…”
Get full text

Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System by Lafaille, Fabien G, Ciancanelli, Michael J, Studer, Lorenz, Smith, Gregory, Notarangelo, Luigi, Casanova, Jean-Laurent, Zhang, Shen-Ying

“…Herpes simplex virus 1 (HSV-1) is a common virus that can rarely invade the human central nervous system (CNS), causing devastating encephalitis. The…”
Get full text

Feeder-free derivation of neural crest progenitor cells from human pluripotent stem cells by Zeltner, Nadja, Lafaille, Fabien G, Fattahi, Faranak, Studer, Lorenz

“…Human pluripotent stem cells (hPSCs) have great potential for studying human embryonic development, for modeling human diseases in the dish and as a source of…”
Get full text

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency by Ciancanelli, Michael J, Huang, Sarah X L, Luthra, Priya, Garner, Hannah, Itan, Yuval, Volpi, Stefano, Lafaille, Fabien G, Trouillet, Céline, Schmolke, Mirco, Albrecht, Randy A, Israelsson, Elisabeth, Lim, Hye Kyung, Casadio, Melina, Hermesh, Tamar, Lorenzo, Lazaro, Leung, Lawrence W, Pedergnana, Vincent, Boisson, Bertrand, Okada, Satoshi, Picard, Capucine, Ringuier, Benedicte, Troussier, Françoise, Chaussabel, Damien, Abel, Laurent, Pellier, Isabelle, Notarangelo, Luigi D, García-Sastre, Adolfo, Basler, Christopher F, Geissmann, Frédéric, Zhang, Shen-Ying, Snoeck, Hans-Willem, Casanova, Jean-Laurent

“…Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the…”
Get full text

A Cell Engineering Strategy to Enhance the Safety of Stem Cell Therapies by Oricchio, Elisa, Papapetrou, Eirini P., Lafaille, Fabien, Ganat, Yosif M., Kriks, Sonja, Ortega-Molina, Ana, Mark, Willie H., Teruya-Feldstein, Julie, Huse, Jason T., Reuter, Victor, Sadelain, Michel, Studer, Lorenz, Wendel, Hans-Guido

“…The long-term risk of malignancy associated with stem cell therapies is a significant concern in the clinical application of this exciting technology. We…”
Get full text

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis by Lafaille, Fabien G., Harschnitz, Oliver, Lee, Yoon Seung, Zhang, Peng, Hasek, Mary L., Kerner, Gaspard, Itan, Yuval, Ewaleifoh, Osefame, Rapaport, Franck, Carlile, Thomas M., Carter-Timofte, Madalina E., Paquet, Dominik, Dobbs, Kerry, Zimmer, Bastian, Gao, Daxing, Rojas-Duran, Maria F., Kwart, Dylan, Rattina, Vimel, Ciancanelli, Michael J., McAlpine, Jessica L., Lorenzo, Lazaro, Boucherit, Soraya, Rozenberg, Flore, Halwani, Rabih, Henry, Benoit, Amenzoui, Naima, Alsum, Zobaida, Marques, Laura, Church, Joseph A., Al-Muhsen, Saleh, Tardieu, Marc, Bousfiha, Ahmed Aziz, Paludan, Søren R., Mogensen, Trine Hyrup, Quintana-Murci, Lluis, Tessier-Lavigne, Marc, Smith, Gregory A., Notarangelo, Luigi D., Studer, Lorenz, Gilbert, Wendy, Abel, Laurent, Casanova, Jean-Laurent, Zhang, Shen-Ying

“…Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn errors of TLR3- and DBR1-mediated central nervous system cell-intrinsic…”
Get full text

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection by Zimmer, Bastian, Ewaleifoh, Osefame, Harschnitz, Oliver, Lee, Yoon-Seung, Peneau, Camille, McAlpine, Jessica L., Liu, Becky, Tchieu, Jason, Steinbeck, Julius A., Lafaille, Fabien, Volpi, Stefano, Notarangelo, Luigi D., Casanova, Jean-Laurent, Zhang, Shen-Ying, Smith, Gregory A., Studer, Lorenz

“…Herpes simplex virus type 1 (HSV-1) encephalitis (HSE) is the most common sporadic viral encephalitis in Western countries. Some HSE children carry inborn…”
Get full text

Capturing the biology of mild versus severe disease in a pluripotent stem cell-based model of Familial Dysautonomia by Zeltner, Nadja, Fattahi, Faranak, Dubois, Nicole C., Saurat, Nathalie, Lafaille, Fabien, Shang, Lei, Zimmer, Bastian, Tchieu, Jason, Soliman, Mohamed A., Lee, Gabsang, Casanova, Jean-Laurent, Studer, Lorenz

“…Familial Dysautonomia (FD) is a debilitating disorder that affects derivatives of the neural crest (NC). For unknown reasons, FD patients show marked…”
Get full text

BAC Transgenesis in Human Embryonic Stem Cells as a Novel Tool to Define the Human Neural Lineage by Placantonakis, Dimitris G., Tomishima, Mark J., Lafaille, Fabien, Desbordes, Sabrina C., Jia, Fan, Socci, Nicholas D., Viale, Agnes, Lee, Hyojin, Harrison, Neil, Tabar, Viviane, Studer, Lorenz

“…Human embryonic stem cells (hESCs) have enormous potential for applications in basic biology and regenerative medicine. However, harnessing the potential of…”
Get full text

Bilateral Intracranial Electrodes for Lateralizing Intractable Epilepsy: Efficacy, Risk, and Outcome by PLACANTONAKIS, Dimitris G, SHARIFF, Saadat, LAFAILLE, Fabien, LABAR, Douglas, HARDEN, Cynthia, HOSAIN, Syed, KANDULA, Padmaja, SCHAUL, Neil, KOLESNIK, Dimitrius, SCHWARTZ, Theodore H

“…Medically refractory epilepsy is amenable to neurosurgical intervention if the epileptogenic focus is accurately localized. If the scalp…”
Get full text

Feeder-free Derivation of Neural Crest Progenitor Cells from Human Pluripotent Stem Cells by Zeltner, Nadja, Lafaille, Fabien G., Fattahi, Faranak, Studer, Lorenz

Get full text

Bilateral Intracranial Electrodes for Lateralizing Intractable Epilepsy by Placantonakis, Dimitris G., Shariff, Saadat, Lafaille, Fabien, Labar, Douglas, Harden, Cynthia, Hosain, Syed, Kandula, Padmaja, Schaul, Neil, Kolesnik, Dimitrius, Schwartz, Theodore H.

“…Abstract OBJECTIVE Medically refractory epilepsy is amenable to neurosurgical intervention if the epileptogenic focus is accurately localized. If the scalp…”
Get full text

Enriched Motor Neuron Populations Derived from Bacterial Artificial Chromosome-transgenic Human Embryonic Stem Cells: 800 by Placantonakis, Dimitris G., Tomishima, Mark, Desbordes, Sabrina C., Lafaille, Fabien, Socci, Nicholas D., Lee, Hyojin, Tabar, Viviane S., Studer, Lorenz

Get full text

Human pluripotent stem cells as an in vitro model of forebrain development and their use in dissecting the role of CNS resident cells in herpes simplex encephalitis by Lafaille, Fabien Gilbert

“…Differentiation of human embryonic stem cells (hESCs) into neural cell types of the central nervous system (CNS) can yield heterogeneous populations of neural…”
Get full text