Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

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Lane Fitzsimmons, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri, Eric Allenspach, Aimee Allworth, Raquel L. Alvarez, Justin Alvey, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Erin Baldwin, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Nicholas Borja, Lorenzo Botto, Lauren C. Briere, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, Kaitlin Callaway, John Carey, George Carvalho, Thomas Cassini, Sirisak Chanprasert, Hsiao-Tuan Chao, Ivan Chinn, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Brian Corner, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Vishnu Cuddapah, Precilla D'souza, Hongzheng Dai, Kahlen Darr, Surendra Dasari, Joie Davis, Margaret Delgado, Esteban C. Dell'angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Jessica Douglas, Emilie D. Douine, Dawn Earl, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Kimberly Ezell, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Jiayu Fu, William A. Gahl, Rebecca Ganetzky, Emily Glanton, Ian Glass, Page C. Goddard, Joanna M. Gonzalez, Andrea Gropman, Meghan Halley, Rizwan Hamid, Neal Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yan Huang, Anna Hurst, Wendy Introne, Gail P. Jarvik, Suman Jayadev, Jean-Marie Orpa, Vaidehi Jobanputra, Oguz Kanca, Yigit Karasozen, Shamika Ketkar, Dana Kiley, Gonench Kilich, Eric W. Klee, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Bruce Korf, Susan Korrick, Deborah Krakow, Elijah Kravets, Seema R. Lalani, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kumarie Latchman, Kimberly Leblanc, Brendan H. Lee, Kathleen A. Leppig, Richard A. Lewis, Pengfei Liu, Nicola Longo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Audreystephannie Maghiro, Rachel Mahoney, May Christine V. Malicdan, Rong Mao, Ronit Marom, Gabor Marth, Beth A. Martin, Martín G. Martín, Julian A. Martínez-Agosto, Shruti Marwaha, Allyn McConkie-Rosell, Ashley McMinn, Matthew Might, Mohamad Mikati, Danny Miller, Ghayda Mirzaa, Breanna Mitchell, Paolo Moretti, Marie Morimoto, John J. Mulvihill, Lindsay Mulvihill, Mariko Nakano-Okuno, Stanley F. Nelson, Serena Neumann, Dargie Nitsuh, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Neil H. Parker, Léshon Peart, Leoyklang Petcharet, John A. Phillips, Filippo Pinto e Vairo, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron R. Quinlan, Daniel J. Rader, Ramakrishnan Rajagopalan, Deepak A. Rao, Anna Raper, Wendy Raskind, Adriana Rebelo, Chloe M. Reuter, Lynette Rives, Lance H. Rodan, Martín-Rodríguez, Jill A. Rosenfeld, Elizabeth Rosenthal, Francis Rossignol, Maura Ruzhnikov, Marla Sabaii, Jacinda B. Sampson, Timothy Schedl, Lisa Schimmenti, Kelly Schoch, Daryl A. Scott, Elaine Seto, Vandana Shashi, Emily Shelkowitz, Sam Sheppeard, Jimann Shin, Edwin K. Silverman, Giorgio Sirugo, Kathy Sisco, Tammi Skelton, Cara Skraban, Carson A. Smith, Kevin S. Smith, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Andrew Stergachis, Joan M. Stoler, Kathleen Sullivan, Shamil R. Sunyaev, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie Tan, Arjun Tarakad, Herman Taylor, Mustafa Tekin, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Nicole M. Walley, Jennifer Wambach, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan H. Whitlock, Lynne A. Wolfe, Heidi Wood, Kim Worley, Shinya Yamamoto, Zhe Zhang, Stephan Züchner, Brett K. Beaulieu-Jones, Shilpa Nadimpalli Kobren. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. BioData Mining, 18(1), 2025. [doi]

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Shinya Yamamoto

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

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