Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

作者：Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine de Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman, Rodrigo Guarischi Sousa, Sanna Gudmundsson, Ashima Gulati, Daniel Guo, Walker Hale, Stacey Hall, William T. Harvey, Megan Hawley, Ben Heavner, Isabella Herman, Martha Horike‐Pyne, Jianhong Hu, Yongqing Huang, James C. M. Hwang, Gail P. Jarvik, Tanner Jensen, Shalini N. Jhangiani, David Jimenez‐Morales, Christopher Jin, Ahmed K. Saad, Amanda Kahn-Kirby, Jessica Kain, Parneet Kaur, Laura Keehan, Susan M. Knoblach, Arthur Ko, Jennefer N. Kohler, Anshul Kundaje, Soumya Kundu, Samuel M. Lancaster, Katie Larsson, Gabrielle Lemire, Richard A. Lewis, Wei Li, Yidan Li, Pengfei Liu, Jonathan LoTempio, James R. Lupski, Jialan Ma, Daniel G. MacArthur, Medhat Mahmoud, Nirav Malani, Brian Mangilog, Dana Marafi, Sofia Marmolejos, Daniel Marten, Eva Martínez, Colby T. Marvin, Shruti Marwaha, Francesco Mastrorosa, Dena R. Matalon, Susanne May, Sean McGee, Lauren Meador, Heather C. Mefford, Hector Rodrigo Mendez, Alexander Miller, Danny E. Miller, Tadahiro Mitani, Stephen B. Montgomery, Hala Mohamed Moussa, Mariana Moyses, Chloe Munderloh, Donna M. Muzny, Sarah C. Nelson, Matthew B. Neu, Jonathan V. Nguyen, Thuy-mi P. Nguyen, Robert L. Nussbaum, Keith Nykamp, William B. O’Callaghan, Emily O’Heir, Melanie O’Leary, Jeren D. Olsen, Ikeoluwa Osei‐Owusu, Anne O’Donnell‐Luria, Evin M. Padhi, Lynn Pais, Miao Pan, Piyush Panchal, Karynne Patterson, Sheryl Payne, Davut Pehli̇van, Paul Petrowski, Alicia Pham, Georgia Pitsava, A. Podesta, Sarah Ponce, Jennifer E. Posey, J. Prosser, Thomas Quertermous, Archana Rai, Arun Ramani, Heidi L. Rehm, Chloe M. Reuter, Jason Reuter, M Richardson, Andres Rivera-Munoz, Oriane Rubio, Aniko Sabo, Monica Salani, Kaitlin E. Samocha, Alba Sanchis‐Juan, Sarah Savage, Stuart A. Scott, Evette Scott, Fritz J. Sedlazeck, Gulalai Shah, Ali Shojaie, Mugdha Singh, J. G. Smith, Kevin S. Smith, Hana Snow, M Snyder, Kayla M. Socarras, Lea M. Starita, Brigitte Stark, Sarah L. Stenton, Andrew B. Stergachis, Adrienne M. Stilp, Laksshman Sundaram, V. Reid Sutton, Jui-Cheng Tai, Michael E. Talkowski, Christina G. Tise, Catherine Tong, Philip S. Tsao, Rachel Ungar, Grace E. VanNoy, Éric Vilain, Isabella Voutos, Kim Walker, Ben Weisburd, Jeff Weiss, C. V. Wellington, Ziming Weng, Emily Westheimer, Marsha M. Wheeler, Matthew T. Wheeler, Laurens Wiel, Michael W. Wilson, Monica H. Wojcik, Quenna Wong, Issac Wong, Changrui Xiao, Rachita Yadav, Yi Qian, Bo Yuan, Jianhua Zhao, Jimmy Zhen, Harry Zhou, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller · 发表于：The American Journal of Human Genetics · 年份：2023 · DOI：10.1016/j.ajhg.2023.06.009 · 被引用次数：125 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Cancer Genomics and Diagnostics