Bilaketaren emaitzak - Coban Akdemir, Zeynep H

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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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