Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Jaya Punetha"'
Autor:
Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
Abstract Objective Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled glutamat
Externí odkaz:
https://doaj.org/article/8027663439ce453b9d8a5847b2e2185f
Autor:
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1395-1406 (2019)
Abstract Objective To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2. Methods Two affected individuals from a family with clinical features of ear
Externí odkaz:
https://doaj.org/article/9d511280f1404c109361e822b7aacab6
Autor:
Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily Glanton, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. Whi
Externí odkaz:
https://doaj.org/article/28a452a9b1cd4abb9866bb89982711e0
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:
Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi
Publikováno v:
Am J Hum Genet
Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant sociocultural and econom
Autor:
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M. Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban‐Akdemir, Fritz J. Sedlazeck, Jill V. Hunter, Shalini N. Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E. Posey, Claudia M. B. Carvalho, Richard A. Gibbs, James R. Lupski
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Protein phosphatase 1 regulatory subunit 35 (PPP1R35) encodes a centrosomal protein required for recruiting microtubule-binding elongation machinery. Several proteins in this centriole biogenesis pathway correspond to established primary microcephaly
Autor:
Richard A. Gibbs, Zeynep Coban-Akdemir, Jeffrey J. Kim, Yaping Yang, Wu Lin Charng, Eric Boerwinkle, Fatima Boricha, Jaya Punetha, Harsha Doddapaneni, Jianhong Hu, Jennifer E. Posey, Mahshid S. Azamian, James R. Lupski, Christopher M. Grochowski, Gladys Zapata, Seema R. Lalani, Santiago O. Valdes, Tomasz Gambin, Donna M. Muzny, Ingrid S. Paine, Patricia P. Hernandez, Xander H.T. Wehrens, Bryan C. Cannon, Shalini N. Jhangiani, John W. Belmont, Christina Y. Miyake
Publikováno v:
Am J Med Genet A
BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is a relatively common arrhythmia affecting ~1-3/1000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in indi
Autor:
Tadahiro Mitani, Mateusz Dawidziuk, Pawel Wlasienko, Piotr S. Iwanowski, Ibrahim Akalin, Jennifer E. Posey, Hadia Hijazi, Kimia Kahrizi, Haowei Du, Wojciech Wiszniewski, Dana Marafi, Susan Blaser, Pawel Gawlinski, Christopher M. Grochowski, Ezgi Aslan, Ronni Teitelbaum, Shalini N. Jhangiani, James R. Lupski, Sanaz Arzhangi, Masoumeh Hosseini, Jaya Punetha, Davut Pehlivan, Hossein Najmabadi, Jawid M Fatih, Zeynep Coban Akdemir, Jill A. Rosenfeld, Hans-Hilger Ropers, Monika Bekiesińska-Figatowska, Tomasz Gambin, David Chitayat, Sarenur Yilmaz, Alicja Goszczańska-Ciuchta, Richard A. Gibbs, Jill V. Hunter, Ender Karaca, Rachel Silver
Publikováno v:
Am J Hum Genet
Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migrat
Autor:
Matthias Pergande, Thomas Lücke, Ezgi Karaca, Hülya-Sevcan Daimagüler, James R. Lupski, Kym D. Kernohan, Pascal Joset, Jennifer E. Posey, Anna Kostera-Pruszczyk, Peter Nürnberg, Rosanne Sprute, Jaya Punetha, Anita Rauch, Sebahattin Cirak, Anju Shukla, Priya T. Bhola, Özkan Özdemir
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Autor:
Leslie Aptekar, Erin Caine Lagoe, Jay Shaw, Caroline Sotile, Daniel Ilg, Saskia van den Berg, Yanjun Jiang, Jaya Punetha, Bryn Webb, Lisong Shi, Ruth Kornreich, Rebekah Zimmerman, Lisa Edelmann
Publikováno v:
Genetics in Medicine. 24:S196-S197