Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1
Hamvas, Aaron, Deterding, Robin R, Wert, Susan E, White, Frances V, Dishop, Megan K, Alfano, Danielle N, Halbower, Ann C, Planer, Benjamin, Stephan, Mark J, Uchida, Derek A, Williames, Lee D, Rosenfeld, Jill A, Lebel, Robert Roger, Young, Lisa R, Cole, F Sessions, Nogee, Lawrence M
Published in Chest (01.09.2013)
Published in Chest (01.09.2013)
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De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Isidor, Bertrand, Küry, Sébastien, Rosenfeld, Jill A., Besnard, Thomas, Schmitt, Sébastien, Joss, Shelagh, Davies, Sally J, Roger Lebel, Robert, Henderson, Alex, Schaaf, Christian P., Streff, Haley E., Yang, Yaping, Jain, Vani, Chida, Nodoka, Latypova, Xenia, Caignec, Cédric Le, Cogné, Benjamin, Mercier, Sandra, Vincent, Marie, Colin, Estelle, Bonneau, Dominique, Denommé, Anne-Sophie, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Piton, Amélie, Dina, Christian, Donnart, Audrey, Lindenbaum, Pierre, Charpentier, Eric, Redon, Richard, Iemura, Kenji, Ikeda, Masanori, Tanaka, Kozo, Bézieau, Stéphane
Published in Human mutation (01.04.2016)
Published in Human mutation (01.04.2016)
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The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Ziats, Mark N., Goin-Kochel, Robin P., Berry, Leandra N., Ali, May, Ge, Jun, Guffey, Danielle, Rosenfeld, Jill A., Bader, Patricia, Gambello, Michael J., Wolf, Varina, Penney, Lynette S., Miller, Ryan, Lebel, Robert Roger, Kane, Jeffrey, Bachman, Kristine, Troxell, Robin, Clark, Gary, Minard, Charles G., Stankiewicz, Pawel, Beaudet, Arthur, Schaaf, Christian P.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Quantitative standards for fetal and neonatal autopsy
ARCHIE, John G, COLLINS, Julianne S, LEBEL, Robert Roger
Published in American journal of clinical pathology (01.08.2006)
Published in American journal of clinical pathology (01.08.2006)
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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
Burkardt, Deepika D'Cunha, Rosenfeld, Jill A., Helgeson, Maria L., Angle, Brad, Banks, Valerie, Smith, Wendy E., Gripp, Karen W., Moline, Jessica, Moran, Rocio T., Niyazov, Dmitriy M., Stevens, Cathy A., Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas G., Kramer, Nancy, Lachman, Ralph S., Graham Jr, John M.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome
Rim, Joshua, Byler, Melissa, Soldatos, Ariane, Notarangelo, Luigi, Leibovitch, Emily, Jacobson, Steven, Gorman, Mark, Lebel, Robert Roger, Werner, Klaus
Published in Neurology (09.02.2021)
Published in Neurology (09.02.2021)
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CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient
Tellerday, Jack, Black, Jennifer, Schuessler, Donald C., Dosa, Nienke P., Alcaraz, Wendy, Lebel, Robert Roger
Published in American journal of medical genetics. Part A (01.10.2024)
Published in American journal of medical genetics. Part A (01.10.2024)
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eP106 - In-frame deletion in SPOP leads to Nabais Sa-de Vries syndrome
Ramos, Leona, Byler, Melissa, Gupta, Shiphali, Wratney, Angela, Petropoulou, Kalliopi, Rana, Ajay, Tokita, Mari, Lebel, Robert Roger, Sakonju, Ai
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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In-frame deletion in SPOP leads to Nabais Sa-de Vries syndrome
Ramos, Leona, Byler, Melissa, Gupta, Shiphali, Wratney, Angela, Petropoulou, Kalliopi, Rana, Ajay, Tokita, Mari, Lebel, Robert Roger, Sakonju, Ai
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R, Zhou, Yijing, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Boycott, Kym M, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Rabani, Ahna M, McCormick, Elizabeth M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Tessarollo, Lino, Tomassoni Ardori, Francesco, Palko, Mary Ellen, Hsieh, Tzung-Chien, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange-Line, Quelin, Chloé, Misra, Vinod K, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana
Published in The Journal of clinical investigation (01.01.2024)
Published in The Journal of clinical investigation (01.01.2024)
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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
Werren, Elizabeth A., LaForce, Geneva R., Srivastava, Anshika, Perillo, Delia R., Li, Shaokun, Johnson, Katherine, Baris, Safa, Berger, Brandon, Regan, Samantha L., Pfennig, Christian D., de Munnik, Sonja, Pfundt, Rolph, Hebbar, Malavika, Jimenez-Heredia, Raúl, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, E. J., Louie, Raymond J., Lebel, Robert Roger, Le, Thuy-Linh, Amiel, Jeanne, Gordon, Christopher T., Boztug, Kaan, Girisha, Katta M., Shukla, Anju, Bielas, Stephanie L., Schaffer, Ashleigh E.
Published in Nature communications (22.02.2024)
Published in Nature communications (22.02.2024)
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