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Authors
Fitzsimmons, Lane
,
Acosta, Maria T.
Adams, David R.
Afzali, Ben
Al-Beshri, Ali
Allenspach, Eric
Allworth, Aimee
Alvarez, Raquel L.
Alvey, Justin
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Baldwin, Erin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Borja, Nicholas
Botto, Lorenzo
Briere, Lauren C.
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Callaway, Kaitlin
Carey, John
Carvalho, George
Cassini, Thomas
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Corner, Brian
Corona, Rosario I.
Craigen, William J.
Crouse, Andrew B.
Cuddapah, Vishnu
D’Souza, Precilla
Dai, Hongzheng
Darr, Kahlen
Dasari, Surendra
Davis, Joie
Delgado, Margaret
Dell’Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Douglas, Jessica
Douine, Emilie D.
Earl, Dawn
Emrick, Lisa T.
Eng, Christine M.
Esteves, Cecilia
Ezell, Kimberly
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Fu, Jiayu
Gahl, William A.
Ganetzky, Rebecca
Glanton, Emily
Glass, Ian
Goddard, Page C.
Gonzalez, Joanna M.
Gropman, Andrea
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hurst, Anna
Introne, Wendy
Jarvik, Gail P.
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kanca, Oguz
Karasozen, Yigit
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Klee, Eric
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korf, Bruce
Korrick, Susan
Krakow, Deborah
Kravets, Elijah
Lalani, Seema R.
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
Latchman, Kumarie
LeBlanc, Kimberly
Lee, Brendan H.
Leppig, Kathleen A.
Lewis, Richard A.
Liu, Pengfei
Longo, Nicola
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McConkie-Rosell, Allyn
McMinn, Ashley
Might, Matthew
Mikati, Mohamad
Miller, Danny
Mirzaa, Ghayda
Mitchell, Breanna
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Mulvihill, Lindsay
Nakano-Okuno, Mariko
Nelson, Stanley F.
Neumann, Serena
Nitsuh, Dargie
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Parker, Neil H.
Peart, LéShon
Petcharet, Leoyklang
Phillips, John A. III
Vairo, Filippo Pinto e
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N. Pusey
Quinlan, Aaron
Rader, Daniel J.
Rajagopalan, Ramakrishnan
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Rebelo, Adriana
Reuter, Chloe M.
Rives, Lynette
Rodan, Lance H.
Rodriguez, Martin
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sabaii, Marla
Sampson, Jacinda B.
Schedl, Timothy
Schimmenti, Lisa
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin K.
Sirugo, Giorgio
Sisco, Kathy
Skelton, Tammi
Skraban, Cara
Smith, Carson A.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stergachis, Andrew
Stoler, Joan M.
Sullivan, Kathleen
Sunyaev, Shamil R.
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie
Tarakad, Arjun
Taylor, Herman
Tekin, Mustafa
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Wood, Heidi
Worley, Kim
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Beaulieu-Jones, Brett
Kobren, Shilpa Nadimpalli
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Funding
Funding for this research was provided by:
National Institutes of Health (NIH) Common Fund (U01HG007530)
NIH National Institute of Neurological Disorders and Stroke (U2CNS132415)
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Article History
Received: 23 August 2024
Accepted: 23 December 2024
First Online: 17 January 2025
Declarations
:
: The authors declare no competing interests. This work was performed in accordance with all ethical guidelines outlined in the NIH IRB #15HG0130. The study proposal and manuscript were approved by the Undiagnosed Diseases Network (UDN) Publications and Research Committee.
: All patients are consented as part of their enrollment into the UDN in accordance with the UDN manual of operations [].
: The authors declare no competing interests.
