Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Zeynep H. Coban-Akdemir"'
Autor:
Xingxin Pan, Jun Yun, Zeynep H. Coban Akdemir, Xiaoqian Jiang, Erxi Wu, Jason H. Huang, Nidhi Sahni, S. Stephen Yi
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1533-1542 (2023)
Discovering effective therapies is difficult for neurological and developmental disorders in that disease progression is often associated with a complex and interactive mechanism. Over the past few decades, few drugs have been identified for treating
Externí odkaz:
https://doaj.org/article/20a864aabc5f4043b0ac3a7f59d4f919
Autor:
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)
Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated se
Externí odkaz:
https://doaj.org/article/cb1320d2b3eb48cfacde06337026d1f0
Autor:
Xingxin Pan, Zeynep H Coban Akdemir, Ruixuan Gao, Xiaoqian Jiang, Gloria M Sheynkman, Erxi Wu, Jason H Huang, Nidhi Sahni, S Stephen Yi
Publikováno v:
Briefings in Bioinformatics. 24
Alzheimer’s disease (AD) is one of the most challenging neurodegenerative diseases because of its complicated and progressive mechanisms, and multiple risk factors. Increasing research evidence demonstrates that genetics may be a key factor respons
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:
Mark M. Li, Sharad Awasthi, Sumanta Ghosh, Deepa Bisht, Zeynep H. Coban Akdemir, Gloria M. Sheynkman, Nidhi Sahni, S. Stephen Yi
Publikováno v:
Cancer Systems and Integrative Biology ISBN: 9781071631621
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf60bdf95824a181b53e3b47d25879e1
https://doi.org/10.1007/978-1-0716-3163-8_24
https://doi.org/10.1007/978-1-0716-3163-8_24
Autor:
Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M. Roifman, Troy Quigg, James R. Lupski, Jordan S. Orange, I. Celine Hanson
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of th
Externí odkaz:
https://doaj.org/article/8931e7901e084222a84c64cfbeb4073c
Autor:
Felix Boschann, Ozgur Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M. Grochowski, Nils R. Hansmeier, Zeynep H. Coban Akdemir, Cesar A. Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E. Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R. Lupski, Uwe Kornak, Julia Schmidt
Publikováno v:
GENETICS IN MEDICINE
Purpose: We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis. Methods: Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affect
Autor:
Lucia Daxinger, Maria Iascone, Fred H. Rodriguez, Monique M van Oostaijen-Ten Dam, Ivan K. Chinn, Julio C Orellana, Rocco Piazza, Sonia Bonanomi, Daniele Moratto, Zeynep H. Coban-Akdemir, Wilma G. M. Kroes, Jaime Vengoechea, Manuel Quadri, Claire Booth, Valentina Jarur-Chamy, Frank Baas, Serena Gasperini, Grazia Fazio, Andrea Biondi, Loreani P Noguera, James R. Lupski, Maja Vukic, Gianni Cazzaniga, Giuseppe Gaipa, Francesco Saettini, Raffaele Badolato, Cecilia Poli, Mario Mauri, Marissa R. Shams, Elizabeth Rivers, Cristina Bugarin, Bo Yuan, Amairelys Barroeta Seijas, Silvère M. van der Maarel
Publikováno v:
Blood
Blood, 137(4), 493-499. AMER SOC HEMATOLOGY
Blood, 137(4), 493-499. AMER SOC HEMATOLOGY
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobuline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d8309ae1906c292dfeed4dba4e0454
http://hdl.handle.net/10281/301708
http://hdl.handle.net/10281/301708
Autor:
Myriam Fornage, James S. Floyd, Jill M. Johnsen, Leslie A. Lange, Paul L. Auer, Jee-Young Moon, John Blangero, Caitlin P. McHugh, Sebastian Meric de Bellefon, Rasika A. Mathias, Guillaume Lettre, Joshua P. Lewis, Florian Thibord, Alexander P. Reiner, Zeynep H. Coban-Akdemir, Adrienne M. Stilp
MotivationWhole-genome DNA sequencing (WGS) enables the discovery of non-coding variants, but tools are lacking to prioritize the subset that functionally impacts human phenotypes. DNA sequence variants that disrupt or create transcription factor bin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ff0814b1538bb909feb5b3286dc8852
https://doi.org/10.1101/2020.11.23.394296
https://doi.org/10.1101/2020.11.23.394296