Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

por Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, Muise, Aleixo M.
Publicado 2021

Diagnostic accuracy of ASQ for screening of neurodevelopmental delays in low resource countries

por Manasyan, Albert, Salas, Ariel A, Nolen, Tracy, Chomba, Elwyn, Mazariegos, Manolo, Tshefu Kitoto, Antoinette, Saleem, Sarah, Naqvi, Farnaz, Hambidge, K Michael, Goco, Norman, McClure, Elizabeth M, Wallander, Jan L, Biasini, Fred J, Goldenberg, Robert L, Bose, Carl L, Koso-Thomas, Marion, Krebs, Nancy F, Carlo, Waldemar A
Publicado 2023

Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease

por Gaynor, J. William, Burnham, Nancy B., Ittenbach, Richard F., Gerdes, Marsha, Bernbaum, Judy C., Zackai, Elaine, Licht, Daniel J., Russell, William W., Zullo, Erin E., Miller, Thomas, Hakonarson, Hakon, Clarke, Kayan A., Jarvik, Gail P., Calafat, Antonia M., Bradman, Asa, Bellinger, David C., Henretig, Frederick M., Coker, Eric S.
Publicado 2022

Comparative genomics to explore phylogenetic relationship, cryptic sexual potential and host specificity of Rhynchosporium species on grasses

por Penselin, Daniel, Münsterkötter, Martin, Kirsten, Susanne, Felder, Marius, Taudien, Stefan, Platzer, Matthias, Ashelford, Kevin, Paskiewicz, Konrad H., Harrison, Richard J., Hughes, David J., Wolf, Thomas, Shelest, Ekaterina, Graap, Jenny, Hoffmann, Jan, Wenzel, Claudia, Wöltje, Nadine, King, Kevin M., Fitt, Bruce D. L., Güldener, Ulrich, Avrova, Anna, Knogge, Wolfgang
Publicado 2016

Expanding the clinical phenotype of IARS2-related mitochondrial disease

por Vona, Barbara, Maroofian, Reza, Bellacchio, Emanuele, Najafi, Maryam, Thompson, Kyle, Alahmad, Ahmad, He, Langping, Ahangari, Najmeh, Rad, Abolfazl, Shahrokhzadeh, Sima, Bahena, Paulina, Mittag, Falk, Traub, Frank, Movaffagh, Jebrail, Amiri, Nafise, Doosti, Mohammad, Boostani, Reza, Shirzadeh, Ebrahim, Haaf, Thomas, Diodato, Daria, Schmidts, Miriam, Taylor, Robert W., Karimiani, Ehsan Ghayoor
Publicado 2018

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

por Li, Mengnan, Nishio, Shin-ya, Naruse, Chie, Riddell, Meghan, Sapski, Sabrina, Katsuno, Tatsuya, Hikita, Takao, Mizapourshafiyi, Fatemeh, Smith, Fiona M., Cooper, Leanne T., Lee, Min Goo, Asano, Masahide, Boettger, Thomas, Krueger, Marcus, Wietelmann, Astrid, Graumann, Johannes, Day, Bryan W., Boyd, Andrew W., Offermanns, Stefan, Kitajiri, Shin-ichiro, Usami, Shin-ichi, Nakayama, Masanori
Publicado 2020

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

por Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W.
Publicado 2021

Vanishing white matter: deregulated integrated stress response as therapy target

por Abbink, Truus E. M., Wisse, Lisanne E., Jaku, Ermelinda, Thiecke, Michiel J., Voltolini‐González, Daniel, Fritsen, Hein, Bobeldijk, Sander, ter Braak, Timo J., Polder, Emiel, Postma, Nienke L., Bugiani, Marianna, Struijs, Eduard A., Verheijen, Mark, Straat, Nina, van der Sluis, Sophie, Thomas, Adri A. M., Molenaar, Douwe, van der Knaap, Marjo S.
Publicado 2019

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

por Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Publicado 2021

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

por Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
Publicado 2021

Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress

por Shaughnessy, Daniel T., McAllister, Kimberly, Worth, Leroy, Haugen, Astrid C., Meyer, Joel N., Domann, Frederick E., Van Houten, Bennett, Mostoslavsky, Raul, Bultman, Scott J., Baccarelli, Andrea A., Begley, Thomas J., Sobol, Robert W., Hirschey, Matthew D., Ideker, Trey, Santos, Janine H., Copeland, William C., Tice, Raymond R., Balshaw, David M., Tyson, Frederick L.
Publicado 2014

NASH limits anti-tumour surveillance in immunotherapy-treated HCC

por Pfister, Dominik, Núñez, Nicolás Gonzalo, Pinyol, Roser, Govaere, Olivier, Pinter, Matthias, Szydlowska, Marta, Gupta, Revant, Qiu, Mengjie, Deczkowska, Aleksandra, Weiner, Assaf, Müller, Florian, Sinha, Ankit, Friebel, Ekaterina, Engleitner, Thomas, Lenggenhager, Daniela, Moncsek, Anja, Heide, Danijela, Stirm, Kristin, Kosla, Jan, Kotsiliti, Eleni, Leone, Valentina, Dudek, Michael, Yousuf, Suhail, Inverso, Donato, Singh, Indrabahadur, Teijeiro, Ana, Castet, Florian, Montironi, Carla, Haber, Philipp K., Tiniakos, Dina, Bedossa, Pierre, Cockell, Simon, Younes, Ramy, Vacca, Michele, Marra, Fabio, Schattenberg, Jörn M., Allison, Michael, Bugianesi, Elisabetta, Ratziu, Vlad, Pressiani, Tiziana, D’Alessio, Antonio, Personeni, Nicola, Rimassa, Lorenza, Daly, Ann K., Scheiner, Bernhard, Pomej, Katharina, Kirstein, Martha M., Vogel, Arndt, Peck-Radosavljevic, Markus, Hucke, Florian, Finkelmeier, Fabian, Waidmann, Oliver, Trojan, Jörg, Schulze, Kornelius, Wege, Henning, Koch, Sandra, Weinmann, Arndt, Bueter, Marco, Rössler, Fabian, Siebenhüner, Alexander, De Dosso, Sara, Mallm, Jan-Philipp, Umansky, Viktor, Jugold, Manfred, Luedde, Tom, Schietinger, Andrea, Schirmacher, Peter, Emu, Brinda, Augustin, Hellmut G., Billeter, Adrian, Müller-Stich, Beat, Kikuchi, Hiroto, Duda, Dan G., Kütting, Fabian, Waldschmidt, Dirk-Thomas, Ebert, Matthias Philip, Rahbari, Nuh, Mei, Henrik E., Schulz, Axel Ronald, Ringelhan, Marc, Malek, Nisar, Spahn, Stephan, Bitzer, Michael, Ruiz de Galarreta, Marina, Lujambio, Amaia, Dufour, Jean-Francois, Marron, Thomas U., Kaseb, Ahmed, Kudo, Masatoshi, Huang, Yi-Hsiang, Djouder, Nabil, Wolter, Katharina, Zender, Lars, Marche, Parice N., Decaens, Thomas, Pinato, David J., Rad, Roland, Mertens, Joachim C., Weber, Achim, Unger, Kristian, Meissner, Felix, Roth, Susanne, Jilkova, Zuzana Macek, Claassen, Manfred, Anstee, Quentin M., Amit, Ido, Knolle, Percy, Becher, Burkhard, Llovet, Josep M., Heikenwalder, Mathias
Publicado 2021

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

por Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E, Ranucci, Giusy, Thiel, Christian, Straub, Beate K, Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W, Kuloğlu, Zarife, Blakely, Emma L, Taylor, Robert W, Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F, Haack, Tobias B, Staufner, Christian
Publicado 2018

Low CCR5 expression protects HIV-specific CD4+ T cells of elite controllers from viral entry

por Claireaux, Mathieu, Robinot, Rémy, Kervevan, Jérôme, Patgaonkar, Mandar, Staropoli, Isabelle, Brelot, Anne, Nouël, Alexandre, Gellenoncourt, Stacy, Tang, Xian, Héry, Mélanie, Volant, Stevenn, Perthame, Emeline, Avettand-Fenoël, Véronique, Buchrieser, Julian, Cokelaer, Thomas, Bouchier, Christiane, Ma, Laurence, Boufassa, Faroudy, Hendou, Samia, Libri, Valentina, Hasan, Milena, Zucman, David, de Truchis, Pierre, Schwartz, Olivier, Lambotte, Olivier, Chakrabarti, Lisa A.
Publicado 2022

The horse Y chromosome as an informative marker for tracing sire lines

por Felkel, Sabine, Vogl, Claus, Rigler, Doris, Dobretsberger, Viktoria, Chowdhary, Bhanu P., Distl, Ottmar, Fries, Ruedi, Jagannathan, Vidhya, Janečka, Jan E., Leeb, Tosso, Lindgren, Gabriella, McCue, Molly, Metzger, Julia, Neuditschko, Markus, Rattei, Thomas, Raudsepp, Terje, Rieder, Stefan, Rubin, Carl-Johan, Schaefer, Robert, Schlötterer, Christian, Thaller, Georg, Tetens, Jens, Velie, Brandon, Brem, Gottfried, Wallner, Barbara
Publicado 2019

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

por Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.
Publicado 2022

Nanomedical Relevance of the Intermolecular Interaction Dynamics—Examples from Lysozymes and Insulins

por Zhang, Ruiyan, Zhang, Ning, Mohri, Marzieh, Wu, Lisha, Eckert, Thomas, Krylov, Vadim B., Antosova, Andrea, Ponikova, Slavomira, Bednarikova, Zuzana, Markart, Philipp, Günther, Andreas, Norden, Bengt, Billeter, Martin, Schauer, Roland, Scheidig, Axel J., Ratha, Bhisma N., Bhunia, Anirban, Hesse, Karsten, Enani, Mushira Abdelaziz, Steinmeyer, Jürgen, Petridis, Athanasios K., Kozar, Tibor, Gazova, Zuzana, Nifantiev, Nikolay E., Siebert, Hans-Christian
Publicado 2019

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

por Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.
Publicado 2022