Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Rhonda Brandon"'
Autor:
Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024)
Externí odkaz:
https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9
Autor:
April Berlyoung, Jessica Noya, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101541- (2024)
Externí odkaz:
https://doaj.org/article/9b1bbfbf99c94f9da979b93eae46b4bd
Autor:
Julianna Spangler, Aaron Johnson, Jessica Noya, Shamila Yusuff, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101546- (2024)
Externí odkaz:
https://doaj.org/article/b7387764b63044b39d542046f52ef20d
Autor:
Ganka Douglas, Jeanne Meck, Lindsay Havens Dyer, Rhonda Brandon, Lisa Dyer, Patricia Fernandez Ferri, Mingjuan Liao, Shuxi Liu, Ludmila Matyakhina, Evica Rajcan-Separovic, Laura Sack, May Sanyoura, Wei Wang, Paul Kruszka
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100500- (2023)
Externí odkaz:
https://doaj.org/article/d954158160c74fa187360331d5abe6cb
Autor:
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
https://doi.org/10.1101/2022.09.21.22279949
Autor:
Amber Begtrup, Mohammad Shahrooei, Deniz Cagdas, Douglas B. Kuhns, Juan Luis Valdivieso Shephard, Nezihe Köker, Joachim Roesler, Amy P. Hsu, Marie José Stasia, Antonio Condino-Neto, Harry L. Malech, Jacinta Bustamante, Esmaeil Mortaz, Ilhan Tezcan, Pandiarajan Vignesh, Baruch Wolach, Dirk Roos, María Bravo García-Morato, Marianne Antonius Jakobsen, Steven M. Holland, Roya Sherkat, Rhonda Brandon, Hirokazu Kanegane, Mauno Vihinen, Faris G. Bakri, Lizbeth Blancas-Galicia, Abbas Fayezi, Amit Rawat, Karin van Leeuwen, John I. Gallin, Toshinao Kawai, M. Yavuz Köker, Christa S. Zerbe, Martin de Boer, Manesha Madkaikar, Debra A. Long Priel
Publikováno v:
Roos, D, van Leeuwen, K, Hsu, A P, Priel, D L, Begtrup, A, Brandon, R, Rawat, A, Vignesh, P, Madkaikar, M, Stasia, M J, Bakri, F G, de Boer, M, Roesler, J, Köker, N, Köker, M Y, Jakobsen, M, Bustamante, J, Garcia-Morato, M B, Shephard, J L V, Cagdas, D, Tezcan, I, Sherkat, R, Mortaz, E, Fayezi, A, Shahrooei, M, Wolach, B, Blancas-Galicia, L, Kanegane, H, Kawai, T, Condino-Neto, A, Vihinen, M, Zerbe, C S, Holland, S M, Malech, H L, Gallin, J I & Kuhns, D B 2021, ' Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update) ', Blood Cells, Molecules and Diseases, vol. 92, 102596 . https://doi.org/10.1016/j.bcmd.2021.102596
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases, Elsevier, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Blood cells, molecules & diseases, 92:102596. Academic Press Inc.
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases, Elsevier, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Blood cells, molecules & diseases, 92:102596. Academic Press Inc.
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the com
Autor:
Dirk Roos, Karin van Leeuwen, Amy P. Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Marie José Stasia, Faris Ghalib Bakri, Nezihe Köker, M. Yavuz Köker, Manisha Madkaika, Martin de Boer, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Joachim Roesler, Hirokazu Kanegane, Toshinao Kawai, Gigliola Di Matteo, Mohammad Shahrooei, Jacinta Bustamante, Amit Rawat, Pandiarajan Vignesh, Esmaeil Mortaz, Abbas Fayezi, Deniz Cagdas, Ilhan Tezcan, Maleewan Kitcharoensakkul, Mary C. Dinauer, Isabelle Meyts, Baruch Wolach, Antonio Condino-Neto, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, John I. Gallin, Douglas B. Kuhns
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2021, 90, pp.102587. ⟨10.1016/j.bcmd.2021.102587⟩
Blood cells, molecules & diseases, 90:102587. Academic Press Inc.
Blood Cells, Molecules and Diseases, 2021, 90, pp.102587. ⟨10.1016/j.bcmd.2021.102587⟩
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2021, 90, pp.102587. ⟨10.1016/j.bcmd.2021.102587⟩
Blood cells, molecules & diseases, 90:102587. Academic Press Inc.
Blood Cells, Molecules and Diseases, 2021, 90, pp.102587. ⟨10.1016/j.bcmd.2021.102587⟩
International audience; Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide produ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e3250be50520e2ec9033c351c42615b
Autor:
Ryan L. Collins, Joseph T. Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa-Marie Niestroj, Jacob Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Nõukas, Xander Nuttle, Kaitlin E. Samocha, Mi Trinh, Farid Ullah, Urmo Võsa, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, David Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Mägi, Tõnu Esko, Alexandre Reymond, Zoltán Kutalik, Hakon Hakonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski, Andres Metspalu, Mari Nelis, Lili Milani
Publikováno v:
Cell. 185(16)
Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently in the global human population and can confer substantial risk for disease. In this study, we aimed to quantify the properties of haploinsufficiency (i.e., d
Autor:
Mark Raymond Adams, Joyce Fuhrmann, Ung Jin Kim, Tanya Mason, J. Craig Venter, Robert X. Xu, Victoria P. Sneddon, Steve Mitchell, Marie L. Crosby, Hyung Lyun Kang, Anne Deslattes Mays, Peter C. Harris, Yicheng Cao, Evan E. Eichler, Lisa A. Cronin, Francis Kalush, Brendan J. Loftus, Mary Barnstead, Rhonda Brandon
Publikováno v:
Genomics. 60:295-308
Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome
Autor:
Christopher Mader, B. B. Birren, Jean Morissette, C. Sanders, K. Swanson, Xiao-Yu Wu, Thomas J. Hudson, Mark S. Boguski, A. Maratukulam, Midori A. Harris, L. Green, S. Hussain, C. East, Robert E. White, Andrew A. Hicks, K. R. Iorio, Andrew B. Castle, W.-L. Sun, Paul Harrison, Simone Duprat, Kate Rice, Eric S. Lander, X. She, Shanti M. Perkins, Ammon B. Peck, Mina Sandusky, John Quackenbush, L. Hui, David Bentley, K. B. McKusick, Anindya Dehejia, Gregory D. Schuler, Gabor Gyapay, T. Dibling, C M Clee, Amita Aggarwal, James R. Hudson, R. Torres, Eva Bajorek, Peter N. Goodfellow, Mark Piercy, Mark Raymond Adams, Jun Fan, Cheryl Phillips, Elizabeth A. Stewart, Nicole Y. Fang, N. Drouot, Ian Dunham, Donna K. Slonim, Mihael H. Polymeropoulos, N. Nomura, Andrew J. Mungall, K. Ishikawa, E. Holloway, J. Ma, P. J. R. Day, N. Seki, S. Bentolila, Jean Weissenbach, P. Rodriguez-Tomé, Adam Butler, Sid Cowles, Angela M. Chu, Karin Schmitt, R. Houlgatte, Panos Deloukas, Tim Reif, Michael R. James, C. Louis-Dit-Sully, S. Voyticky, P. Tabar, David R. Cox, A. MacGilvery, David C. Page, Carol Soderlund, C A Edwards, S A Ranby, Nicole A.R. Walter, Douglas Vollrath, T. E. Wilmer, Lincoln Stein, H. C. Nusbaum, Takahiro Nagase, Tara C. Matise, T. Thangarajah, Susan E. Ide, Fawn Qin, Richard M. Myers, Steve Rozen, Jacques S. Beckmann, Richard Berry, James M. Sikela, Charles Auffray, Shannon T. Brady, Cécile Fizames, Christine Garrett, David Hadley, Delphine Muselet, Nathalie Vega-Czarny, Rhonda Brandon, Wha‐Young Lee, N. Chiannilkulchai, J. C. Venter, James Silva
Publikováno v:
Science. 274:540-546
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers