Torthaí cuardaigh - Coban Akdemir, Zeynep H

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 de réir Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine

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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation de réir Burk, Caitlin M., Coffey, Kara E., Mace, Emily M., Bostwick, Bret L., Chinn, Ivan K., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Lupski, James R., Ortiz, Damara, Barnum, Jessie L., Allen, Steven W., Robertson, Leanna-Marie, Orange, Jordan S., Chong, Hey J.

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation de réir Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Muzny, Donna M., Gibbs, Richard A., Boerwinkle, Eric, Eng, Christine M., Sutton, V. Reid, Shaw, Chad A., Plon, Sharon E., Yang, Yaping, Lupski, James R.

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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID de réir Kuhny, Marcel, Forbes, Lisa R., Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric

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Whole-Exome Sequencing in Familial Parkinson Disease de réir Farlow, Janice L., Robak, Laurie A., Hetrick, Kurt, Bowling, Kevin, Boerwinkle, Eric, Coban-Akdemir, Zeynep H., Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Porter, Paula, Pugh, Elizabeth, White, Janson, Doheny, Kimberly, Myers, Richard M., Shulman, Joshua M., Foroud, Tatiana

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A Genocentric Approach to Discovery of Mendelian Disorders de réir Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Davis, Erica E., Katsanis, Nicholas, Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A.

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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation de réir Coban-Akdemir, Zeynep H., Charng, Wu-Lin, Azamian, Mahshid, Paine, Ingrid Sophie, Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago, Cannon, Bryan, Zapata, Gladys, Hernandez, Patricia P., Jhangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Boricha, Fatima, Muzny, Donna M., Boerwinkle, Eric, Yang, Yaping, Gibbs, Richard A., Posey, Jennifer E., Wehrens, Xander H.T., Belmont, John W., Kim, Jeffrey J., Miyake, Christina Y., Lupski, James R., Lalani, Seema R.

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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders de réir Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban-Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin-Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

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Biallelic variants in KIF14 cause intellectual disability with microcephaly de réir 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.

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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome de réir Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.

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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay de réir Morimoto, Marie, Waller-Evans, Helen, Ammous, Zineb, Song, Xiaofei, Strauss, Kevin A., Pehlivan, Davut, Gonzaga-Jauregui, Claudia, Puffenberger, Erik G., Holst, Charles R., Karaca, Ender, Brigatti, Karlla W., Maguire, Emily, Coban-Akdemir, Zeynep H., Amagata, Akiko, Lau, C. Christopher, Chepa-Lotrea, Xenia, Macnamara, Ellen, Tos, Tulay, Isikay, Sedat, Nehrebecky, Michele, Overton, John D., Klein, Matthew, Markello, Thomas C., Posey, Jennifer E., Adams, David R., Lloyd-Evans, Emyr, Lupski, James R., Gahl, William A., Malicdan, May Christine V.

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Centers for Mendelian Genomics: A decade of facilitating gene discovery de réir Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., O’Donnell-Luria, Anne

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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability de réir Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John

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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency de réir Saettini, Francesco, Poli, Cecilia, Vengoechea, Jaime, Bonanomi, Sonia, Orellana, Julio C., Fazio, Grazia, Rodriguez, Fred H., Noguera, Loreani P., Booth, Claire, Jarur-Chamy, Valentina, Shams, Marissa, Iascone, Maria, Vukic, Maja, Gasperini, Serena, Quadri, Manuel, Barroeta Seijas, Amairelys, Rivers, Elizabeth, Mauri, Mario, Badolato, Raffaele, Cazzaniga, Gianni, Bugarin, Cristina, Gaipa, Giuseppe, Kroes, Wilma G. M., Moratto, Daniele, van Oostaijen-ten Dam, Monique M., Baas, Frank, van der Maarel, Silvère, Piazza, Rocco, Coban-Akdemir, Zeynep H., Lupski, James R., Yuan, Bo, Chinn, Ivan K., Daxinger, Lucia, Biondi, Andrea

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Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders de réir Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer, Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E., Chinn, Ivan K.

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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis de réir Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., Allen, Carl E.

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities de réir Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease de réir Cook, Sarah A., Comrie, William A., Poli, M. Cecilia, Similuk, Morgan, Oler, Andrew J., Faruqi, Aiman J., Kuhns, Douglas B., Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F., Fournier, Benjamin, Anderson, D. Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R., Mace, Emily M., Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Cuvelier, Geoffrey D.E., Al Hassani, Moza, AL Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W., Huang, Yanping, Burkhardt, Janis K., Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V. Koneti, Chinn, Ivan K., Lenardo, Michael J.

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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function de réir Lam, Michael T., Coppola, Simona, Krumbach, Oliver H.F., Prencipe, Giusi, Insalaco, Antonella, Cifaldi, Cristina, Brigida, Immacolata, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre F., Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Levi Mortera, Stefano, Camerini, Serena, Farina, Luciapia, Buchholzer, Marcel, Pannone, Luca, Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Basso-Ricci, Luca, Chiriaco, Maria, Dvorsky, Radovan, Putignani, Lorenza, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjorg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan T., Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Locatelli, Franco, Chinn, Ivan K., Lupski, James R., Mace, Emily M., Cancrini, Caterina, Aiuti, Alessandro, Ahmadian, Mohammad R., Orange, Jordan S., De Benedetti, Fabrizio, Tartaglia, Marco

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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms de réir Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

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