Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

作者：Laura Keehan, Hitomi Ono Minagi, Mohamad Hadhud, Jonathan Rips, Daniel M. Hinds, Anthony J. Fischer, Jennifer A. Bartlett, Paul B. McCray, Nada Qawasmi, Nadia Moulin Nathan, Camille Louvrier, Tifenn Desroziers, Markus Damme, M. Griese, Daniel J. Wegner, F S Cole, Jennifer Wambach, Matthew T. Wheeler, Peter D. Burbelo, Devon Bonner, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary Clark, Hongzheng Dai, Hsiao‐Tuan Chao, Ivan Chinn, James P. Orengo, Jennifer E. Posey, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren S. Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Pengfei Liu, Adeline Vanderver, Cara Skraban, Edward Behrens, Gonench Kilich, Kathleen Sullivan, Kelly Hassey, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Vishnu Cuddapah, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Vaidehi Jobanputra, Allyn McConkie-Rosell, Kelly Schoch, Mohamad Mikati, Nicole Walley, Rebecca C. Spillmann, Vandana Shashi, Alan H. Beggs, Calum A. MacRae, David A. Sweetser, Deepak A. Rao, Edwin K. Silverman, Elizabeth L. Fieg, Frances A. High, Gerard T. Berry, Ingrid A. Holm, J.Carl Pallais, Joan M. Stoler, Joseph Loscalzo, Lance Rodan, Laurel A. Cobban, Lauren C. Briere, Matthew Coggins, Melissa Walker, Richard L. Maas, Susan Korrick, Jessica Douglas, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Rachel Mahoney, Shamil R. Sunyaev, Shilpa N. Kobren, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, E. B. Klee, Filippo Pinto e Vairo, Ian R. Lanza, Kahlen R. Darr, Lindsay A. Mulvihill, Lisa A. Schimmenti, Queenie Tan, Surendra Dasari, Abdul Elkadri, Brett J. Bordini, D Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael Zimmermann, Adriana Rebelo, Carson A. Smith, Deborah Barbouth, Güney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LeShon Peart, Mustafa Tekin, Nicholas A. Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Herman Taylor, Rakale C. Quarells, Ayuko Iverson, Bruce D. Gelb, Charlotte Cunningham-Rundles, Eric Gayle, Joanna Tice Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Andrea Gropman, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, Donna Novacic, Ellen F. Macnamara, John J. Mulvihill, Maria T. Acosta, Precilla D'Souza, Valerie V. Maduro, Ben Afzali, Ben Solomon, Cynthia J. Tifft, David H. Adams, Elizabeth A. Burke, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Marie Morimoto, Marla Sabaii, MayChristine V. Malicdan, Neil Hanchard, Orpa Jean-Marie, Wendy Introne, William A. Gahl, Yan Huang, Andrew Stergachis, Danny Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Emily Shelkowitz, Eric J. Allenspach, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian A. Glass, Kathleen A. Leppig, Katrina M Dipple, Mark Wener, Martha Horike-Pyne, Michael Bamshad, Peter Byers, Runjun Kumar, Seth J. Perlman, Sirisak Chanprasert, Virginia Sybert, W H Raskind, Nitsuh Dargie, Chun‐Hung Chan, Francisco Bustos velasq, Isum D Ward Ward, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Alexander Miller, Beatriz Anguiano, Beth A. Martin, Brianna Tucker, Chloe M. Reuter, Devon Bonner, E. A. Kravets, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer C. Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Sara Emami, Shruti Marwaha, Stephen B. Montgomery, Suha Bachir, Tanner Jensen, Taylor Maurer, Terra R. Coakley, Euan A. Ashley, Ali Al-Beshri, Anna C.E. Hurst, Brandon M. Wilk, Bruce R. Korf, Elizabeth A. Worthey, Kaitlin Callaway, Martin Rodriguez, Tammi Skelton, Tarun KK Mamidi, Andrew B. Crouse, Jordan H. Whitlock, Mariko Nakano-Okuno, Matthew Might, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Jose Abdenur, Kirsten Blanco, Maija-Rikka Steenari, Rebekah Barrick, Richard Chang, Sanaz Attaripour, Suzanne Sandmeyer, Tahseen Mozaffar, Alden Huang, Andres Vargas, Bianca Russell, Brent L. Fogel, Esteban C. Dell'Angelica, George Carvalho, Julian A. Martínez-Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, John Carey, Justin Alvey, Laura Pace, Lorenzo Botto, Nicola Longo, Paolo Moretti, Rebecca S. Overbury, Russell Butterfield, Steven Boyden, Thomas Nicholas, Matt Velinder, Gabor Marth, Pinar Bayrak-Toydemir, Rong Mao, Monte Westerfield, Brian E. Corner, John A. Phillips, Kimberly Ezell, Lynette Rives, Rizwan Hamid, Serena Neumann, Ashley McMinn, Joy D. Cogan, Thomas Cassini, Alex Paul, Dana Kiley, Daniel J. Wegner, Erin McRoy, Jennifer Wambach, Kathy Sisco, Patricia Dickson, F S Cole, Dustin Baldridge, Jimann Shin, Lilianna Solnica-Krezel, Stephen C. Pak, Timothy Schedl, Allen Bale, Carol R. Oladele, Caroline Hendry, Emily Wang, Hua Xu, Hui Lei Wu Zhang, Lauren Jeffries, María José Ortuño Romero, Mark Gerstein, Michele Spencer-Manzon, Monkol Lek, Nada Derar, Odelya Kaufman, Shrikant Mane, Teodoro Jerves Serrano, Vasilis Vasiliou, Winston Halstead, Yong-Hui Jiang, Jonathan A. Bernstein, John A. Chiorini, Oded Breuer, Carlos Milla · 发表于：Genetics in Medicine · 年份：2026 · DOI：10.1016/j.gim.2026.102531 · 被引用次数：3 · 研究领域：Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis、Neonatal Respiratory Health Research、Amyotrophic Lateral Sclerosis Research