BetterScholar BetterScholar
6
Role
Title
Level Year L/R
🐜 Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity
10 auth. Corey T. Watson, K. M. Steinberg, Tina Graves, Rene L. Warren, Maika Malig, Jacqueline Schein, ... Richard K. Wilson, Robert A. Holt, Evan E. Eichler, Felix Breden
5 2014
5
🐜
🐜 Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
48 auth. Jonas A Gustafson, S. Gibson, Nikhita Damaraju, M. Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A. Snead, Phillip A Richmond, W. D. Coster, Nathan D. Olson, A. Guarracino, Qiuhui Li, Angela L Miller, J. Goffena, ... Zachery Anderson, S. Storz, Sydney A. Ward, Maisha Sinha, C. Gonzaga‐Jauregui, Wayne E. Clarke, A. Basile, A. Corvelo, C. Reeves, Adrienne Helland, R. Musunuri, Mahler Revsine, Karynne E. Patterson, Cate R. Paschal, Christina Zakarian, Sara Goodwin, Tanner D. Jensen, Esther Robb, GREGoR Consortium, W. R. McCombie, F. Sedlazeck, J. Zook, Stephen B Montgomery, Erik Garrison, M. Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, M. Zody, Mathew Loose, Miten Jain, Evan E. Eichler, Danny E. Miller
4 2024
4
🐜
🐜 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
19 auth. M. Zalusky, Jonas A Gustafson, Stephanie Bohaczuk, Ben Mallory, P. Reed, Tara L. Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, ... C. M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, M. Bamshad, Evan E. Eichler, Andrew Stergachis, Danny E. Miller
4 2022
4
🐜
🐜 Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
232 auth. Jessica X. Chong, Seth I. Berger, Samantha Baxter, Erica Smith, Changrui Xiao, D. Calame, Megan H. Hawley, E. A. Rivera-Munoz, Stephanie P. DiTroia, Siwaar Abouhala, Jessica Albert, M. Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, ... Swaroop Aradhya, Euan Ashley, T. Assimes, Light Auriga, C. Austin-Tse, M. Bamshad, H. Barseghyan, S. Behera, Shaghayegh Beheshti, G. Bejerano, Seth I. Berger, Jonathan A Bernstein, Sabrina M. Best, Benjamin Blankenmeister, Elizabeth E. Blue, E. Boerwinkle, Emily S. Bonkowski, D. Bonner, Philip M. Boone, Miriam Bornhorst, Harrison Brand, K. Buckingham, D. Calame, Jennefer N Carter, Silvia Casadei, Lisa Chadwick, Clarisa Chavez, Ziwei Chen, Ivan Chinn, Jessica X. Chong, Z. Coban-Akdemir, Andrea J. Cohen, Sarah Conner, M. Conomos, K. Coveler, Ya Allen Cui, Sara Currin, R. Daber, Z. Dardas, Colleen Davis, Moez Dawood, Ivan de Dios, C. D. de Esch, Meghan Delaney, Emmanuèle C. Délot, Harsha Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan-Perez, Nhat Duong, Michael Duyzend, Evan E. Eichler, Sara Emami, Jamie Fraser, Vincent Fusaro, M. Galey, Vijay S Ganesh, Brandon Garcia, K. Garimella, Richard A Gibbs, Casey Gifford, Amy-Sarah Ginsburg, Pagé C. Goddard, S. Gogarten, N. Gogate, William Gordon, J. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, E. Groopman, Rodrigo Guarischi Sousa, Sanna Gudmundsson, Ashima Gulati, S. Hall, William T. Harvey, Megan H. Hawley, Benjamin D. Heavner, M. Horike‐Pyne, Jianhong Hu, Yongqing Huang, J. Hwang, Gail P Jarvik, Tanner D. Jensen, S. Jhangiani, D. Jimenez-Morales, Christopher Jin, Ahmed K Saad, Amanda H. Kahn-Kirby, Jessica Kain, Parneet Kaur, Laura Keehan, Susan Knoblach, Arthur Ko, A. Kundaje, Soumya Kundu, Samuel M. Lancaster, Katie Larsson, Arthur S. Lee, G. Lemire, Richard A. Lewis, Wei Li, Yidan Li, Pengfei Liu, Jonathan Lotempio, James Lupski, Jialan Ma, D. MacArthur, M. Mahmoud, N. Malani, B. Mangilog, Dana Marafi, Sofia Marmolejos, Daniel Marten, Eva Martinez, Colby T. Marvin, S. Marwaha, Francesco Kumara Mastrorosa, D. Matalon, Susanne May, Sean R Mcgee, Lauren Meador, H. Mefford, Hector R Mendez, Alexander Miller, Danny E. Miller, Tadahiro Mitani, Stephen B. Montgomery, Mariana Moyses, Chloe Munderloh, D. Muzny, Sarah Nelson, Thuy-mi P. Nguyen, Jonathan V Nguyen, Robert Nussbaum, Keith Nykamp, William D. O'Callaghan, Emily O’Heir, Melanie O'Leary, Jeren Olsen, I. Osei-Owusu, A. O’Donnell-Luria, Evin M. Padhi, Lynn Pais, Miao Pan, Piyush Panchal, Karynne E. Patterson, Sheryl Payne, D. Pehlivan, Paul Petrowski, Alicia Pham, Georgia Pitsava, Astaria Sara Podesta, Sarah Ponce, Elizabeth Porter, Jennifer Posey, Jaime Prosser, Thomas Quertermous, Archana Rai, A. Ramani, Heidi L. Rehm, Chloe M Reuter, Jason Reuter, Matthew A. Richardson, Andres Rivera-Munoz, O. Rubio, A. Sabo, M. Salani, K. Samocha, Alba Sanchis-Juan, Sarah K. Savage, Evette Scott, Stuart Scott, F. Sedlazeck, Gulalai Shah, Ali Shojaie, Mugdha Singh, Kevin Scott Smith, Josh Smith, Hana R. Snow, Michael Snyder, Kayla Socarras, Lea M. Starita, Brigitte Stark, S. Stenton, Andrew Stergachis, A. Stilp, V. R. Sutton, Jui-Cheng Tai, Michael Talkowski, Christina Tise, Catherine Tong, Philip S. Tsao, Rachel A. Ungar, G. VanNoy, E. Vilain, Isabella Voutos, Kim Walker, Chia-Lin Wei, B. Weisburd, Jeff Weiss, Chris Wellington, Ziming Weng, Emily Westheimer, Marsha M. Wheeler, M. Wheeler, Laurens Wiel, Michael Wilson, Monica Wojcik, Quenna Wong, Rachita Yadav, Qian Yi, Bo Yuan, Jianhua Zhao, Jimmy Zhen, Harry Zhou, M. Bamshad, Heidi L. Rehm
1 2024
1
🐜
🐜 GREGoR: Accelerating Genomics for Rare Diseases
34 auth. Moez Dawood, Benjamin D. Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan Lotempio, Laurens Wiel, S. Berger, Jonathan A Bernstein, Jessica X. Chong, Emmanuèle C. Délot, Evan E. Eichler, Richard A Gibbs, J. Lupski, Ali Shojaie, M. Talkowski, ... Alex H. Wagner, Chia-Lin Wei, Chris Wellington, M. Wheeler, GREGoR Partner Members, Claudia M.B. Carvalho, Casey Gifford, Susanne May, Danny E. Miller, Heidi L. Rehm, F. Sedlazeck, E. Vilain, A. O’Donnell-Luria, J. Posey, Lisa Chadwick, M. Bamshad, Stephen B. Montgomery, Genomics Research to Elucidate the Genetics of Rare Diseases, Consortium
0 2024
0
🐜
🐢 Structural diversity African origin of the inversion polymorphism.
20 auth. K. M. Steinberg, F. Antonacci, Peter H. Sudmant, J. Kidd, Catarina D. Campbell, Laura Vives, Maika Malig, L. Scheinfeldt, William Beggs, Muntaser Ibrahim, ... Godfrey Lema, T. Nyambo, S. Omar, Jean-Marie, Bodo, Alain Froment, Michael P. Donnelly, Kenneth K. Kidd, S. A. Tishkoff, Evan E. Eichler
0 2016
0
🐢