Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Zeynep H. Coban-Akdemir"'
Autor:
Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
Publikováno v:
Genet Med
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and
Autor:
Emily M. Mace, Carl E. Allen, R. Helen Rouce, Asbjørg Stray-Pedersen, Jordan S. Orange, Shalini N. Jhangiani, Olive S. Eckstein, Kenneth L. McClain, M. Cecilia Poli, Ivan K. Chinn, Hey Chong, Nmazuo W. Ozuah, Jason W. Caldwell, Lisa R. Forbes, Erin C. Peckham-Gregory, Tiphanie P. Vogel, Nader Kim El-Mallawany, Juan C. Aldave-Becerra, Joseph Lubega, Jennifer E. Agrusa, Helen E. Heslop, Zeynep H. Coban-Akdemir, James R. Lupski, Francesco Saettini, Nicholas L. Rider, Stephen Jolles, Natalia S. Chaimowitz, Donna M. Muzny, Richard A. Gibbs, Kala Y. Kamdar, Nitya Gulati
Publikováno v:
J Allergy Clin Immunol
Background Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a paucity of data exists to guid
Autor:
Immacolata Brigida, Lamberto Torralba-Raga, Radovan Dvorsky, Silvia Di Cesare, Andrea Finocchi, AnnaCarin Horne, Ivan K. Chinn, Serena Scala, Simone Martinelli, Antonia Pascarella, Asbjørg Stray-Pedersen, Erika Zara, Marco Tartaglia, Emily M. Mace, Franco Locatelli, Luca Pannone, Stefano Levi Mortera, Claudia Bracaglia, Giusi Prencipe, Mohammad Akbarzadeh, Paolo Palma, Petra Janning, Anna Pastore, Rita Carsetti, Mohammad Reza Ahmadian, Fabrizio De Benedetti, Michael R. Diehl, Petra Netter, Shalini N. Jhangiani, Richard A. Gibbs, Caterina Cancrini, Tram N. Cao, James R. Lupski, Alexandre F. Carisey, Vittorio Rosti, Pietro Merli, Alessandro Aiuti, Zeynep H. Coban-Akdemir, Donna M. Muzny, Yenan T. Bryceson, Francesca Pantaleoni, Martina Di Rocco, Serena Camerini, Marcello Niceta, Virginia Messia, Cristina Cifaldi, Marcel Buchholzer, Andrea Ciolfi, Michael T. Lam, Hans Christian Erichsen, Antonella Insalaco, Kim Ramme, Oliver H.F. Krumbach, Francesca Conti, Luca Basso-Ricci, Simona Coppola, Jordan S. Orange, Maria Chiriaco, Lorenza Putignani, Luciapia Farina
Publikováno v:
Journal of Experimental Medicine
The Journal of Experimental Medicine
The Journal of Experimental Medicine
Lam et al. characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42. The authors use in silico, in vitro, and in vivo analyses to correlate the molecular mechanisms altering CDC42 function to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31838d698a101a082dacfe29d539025
http://hdl.handle.net/10852/75483
http://hdl.handle.net/10852/75483
Autor:
Joy Jayaseelan, Shen Gu, Philip M. Boone, Heather A. Dickerson, Lisa C.A. D'Alessandro, Shalini N. Jhangiani, Richard A. Gibbs, Eric Boerwinkle, Huyen Dinh, Nancy J. Hall, James F. Martin, Alexander H. Li, Charles D. Fraser, Donna M. Muzny, Mahshid Azamian, Susan D. Fernbach, Tomaz Gambin, Jianhong Hu, Zeynep H. Coban-Akdemir, Harshavardhan Doddapaneni, Jeffrey A. Towbin, Bo Yuan, John W. Belmont, Daniel J. Penny, Annarita Nicosia, Seema R. Lalani, Neil A. Hanchard, Stephanie M. Ware, James R. Lupski, Keila N. Lopez, Ender Karaca
Publikováno v:
European journal of human genetics : EJHG. 27(4)
Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for