Zobrazeno 1 - 10
of 902
pro vyhledávání: '"Bamshad, Michael J."'
Autor:
Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken by
Externí odkaz:
http://arxiv.org/abs/2301.07363
Autor:
Aksit, Melis A., Bamshad, Michael J., Blackman, Scott M., Blue, Elizabeth, Buckingham, Kati, Chong, Jessica X., Collaco, J. Michael, Cutting, Garry R., Dang, Hong, Eastman, Alice, Faino, Anna, Gallins, Paul J., Gibson, Ronald, Godwin, Beth, Gordon, William W., Hetrick, Kurt, Huang, Le, Knowles, Michael R., Lam, Anh-Thu N., Ling, Hua, Liu, Weifang, Li, Yun, Onchiri, Frankline, O'Neal, Wanda K., Pace, Rhonda G., Pagel, Kymberleigh, Porter, Mark, Pugh, Elizabeth, Raraigh, Karen S., Mikeasky, Rebekah, Rosenfeld, Margaret, Rosen, Jonathan, Stilp, Adrienne, Stonebraker, Jaclyn R., Sun, Quan, Wen, Jia, Wright, Fred A., Yang, Yingxi, Zhang, Peng, Zhou, Yi-Hui, Pugh, Elizabeth W., Faino, Anna V., Gibson, Ronald L., O’Neal, Wanda
Publikováno v:
In The American Journal of Human Genetics 3 October 2024 111(10):2203-2218
Autor:
Mansoorshahi, Sara, Yetman, Anji T., Bissell, Malenka M., Kim, Yuli Y., Michelena, Hector I., De Backer, Julie, Mosquera, Laura Muiño, Hui, Dawn S., Caffarelli, Anthony, Andreassi, Maria G., Foffa, Ilenia, Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., Morris, Shaine A., Body, Simon C., Chong, Jessica X., Bamshad, Michael J., Milewicz, Dianna M., Prakash, Siddharth K.
Publikováno v:
In The American Journal of Human Genetics 3 October 2024 111(10):2219-2231
Autor:
Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., Rehm, Heidi L.
Publikováno v:
In Genetics in Medicine October 2024 26(10)
Autor:
Morimoto, Marie, Ryu, Eunjin, Steger, Benjamin J., Dixit, Abhijit, Saito, Yoshihiko, Yoo, Juyeong, van der Ven, Amelie T., Hauser, Natalie, Steinbach, Peter J., Oura, Kazumasa, Huang, Alden Y., Kortüm, Fanny, Ninomiya, Shinsuke, Rosenthal, Elisabeth A., Robinson, Hannah K., Guegan, Katie, Denecke, Jonas, Subramony, Sankarasubramoney H., Diamonstein, Callie J., Ping, Jie, Fenner, Mark, Balton, Elsa V., Strohbehn, Sam, Allworth, Aimee, Bamshad, Michael J., Gandhi, Mahi, Dipple, Katrina M., Blue, Elizabeth E., Jarvik, Gail P., Lau, C. Christopher, Holm, Ingrid A., Weisz-Hubshman, Monika, Solomon, Benjamin D., Nelson, Stanley F., Nishino, Ichizo, Adams, David R., Kang, Sukhyun, Gahl, William A., Toro, Camilo, Myung, Kyungjae, Malicdan, May Christine V.
Publikováno v:
In The American Journal of Human Genetics 5 September 2024 111(9):1970-1993
Autor:
Sheridan, Molly B, Aksit, Melis A, Pagel, Kymberleigh, Hetrick, Kurt, Shultz-Lutwyche, Hannah, Myers, Ben, Buckingham, Kati J, Pace, Rhonda G, Ling, Hua, Pugh, Elizabeth, O'Neal, Wanda K, Bamshad, Michael J, Gibson, Ronald L, Knowles, Michael R, Blackman, Scott M, Cutting, Garry R, Raraigh, Karen S
Publikováno v:
In Journal of Cystic Fibrosis July 2024 23(4):707-715
Autor:
Patterson, Karynne, Chong, Jessica X., Chung, Doug D., Lisch, Walter, Karp, Carol L., Dreisler, Erling, Lockington, David, Rohrbach, Jens M., Garczarczyk-Asim, Dorota, Müller, Thomas, Tuft, Stephen J., Skalicka, Pavlina, Wilnai, Yael, Samra, Nadra Naser, Ibrahim, Ali, Mandel, Hanna, Davidson, Alice E., Liskova, Petra, Aldave, Anthony J., Bamshad, Michael J., Janecke, Andreas R.
Publikováno v:
In American Journal of Ophthalmology February 2024 258:183-195
Autor:
Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Chandrabose Sundaramurthi, Jagadish, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.
Publikováno v:
In Human Genetics and Genomics Advances October 2024
Autor:
Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.
Publikováno v:
In Genetics in Medicine Open 2024 2
Akademický článek
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