A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

Fazal, Sarah ; Dashnow, Harriet ; Dohrn, Maike F. ; Raposo, Jacquelyn ; Hiatt, Laurel ; Danzi, Matt C. ; Xu, Isaac R. L. ; Toro, Camilo ; Adams, David R. ; Usdin, Karen ; Hayward, Bruce ; Kobren, Shilpa Nadimpalli ; Sunyaev, Shamil R. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Rebelo, Adriana ; Bademci, Guney ; Tekin, Mustafa ; Quinlan, Aaron R. ; Zuchner, Stephan ; Quinlan, Aaron (Contributor) ; Elkadri, Abdul (Contributor) ; Vanderver, Adeline (Contributor) ; Rebelo, Adriana (Contributor) ; Beggs, Alan H. (Contributor) ; La Spada, Albert R. (Contributor) ; Huang, Alden (Contributor) ; Paul, Alex (Contributor) ; Miller, Alexander (Contributor) ; Al-Beshri, Ali (Contributor) ; Ward, Alistair (Contributor) ; Bale, Allen (Contributor) ; McConkie-Rosell, Allyn (Contributor) ; Tran, Alyssa A. (Contributor) ; Gropman, Andrea (Contributor) ; Vargas, Andres (Contributor) ; Crouse, Andrew B. (Contributor) ; Stergachis, Andrew (Contributor) ; Hurst, Anna (Contributor) ; Raper, Anna (Contributor) ; Tarakad, Arjun (Contributor) ; Andrews, Ashley (Contributor) ; McMinn, Ashley (Contributor) ; Balasubramanyam, Ashok (Contributor) ; Pusey Swerdzewski, Barbara N. (Contributor) ; Anguiano, Beatriz (Contributor) ; Afzali, Ben (Contributor) ; Solomon, Ben (Contributor) ; Martin, Beth A. (Contributor) ; Russell, Bianca E. (Contributor) ; Wilk, Brandon M. (Contributor) ; Mitchell, Breanna (Contributor) ; Lanpher, Brendan C. (Contributor) ; Lee, Brendan H. (Contributor) ; Fogel, Brent L. (Contributor) ; Bordini, Brett (Contributor) ; Graham, Brett H. (Contributor) ; Corner, Brian (Contributor) ; Tucker, Brianna (Contributor) ; Korf, Bruce (Contributor) ; MacRae, Calum A. (Contributor) ; Toro, Camilo (Contributor) ; Skraban, Cara (Contributor) ; Bacino, Carlos A. (Contributor) ; Oladele, Carol (Contributor) ; Hendry, Caroline (Contributor) ; Smith, Carson A. (Contributor) ; Esteves, Cecilia (Contributor) ; Xiao, Changrui (Contributor) ; Reuter, Chloe M. (Contributor) ; Eng, Christine M. (Contributor) ; Chan, Chun-Hung (Contributor) ; Wahl, Colleen E. (Contributor) ; Welt, Corrine K. (Contributor) ; Tifft, Cynthia J. (Contributor) ; Kiley, Dana (Contributor) ; Rader, Daniel J. (Contributor) ; Wegner, Daniel (Contributor) ; Miller, Danny (Contributor) ; Scott, Daryl A. (Contributor) ; Viskochil, Dave (Contributor) ; Sweetser, David A. (Contributor) ; Adams, David R. (Contributor) ; Barbouth, Deborah (Contributor) ; Rao, Deepak A. (Contributor) ; Oglesbee, Devin (Contributor) ; Bonner, Devon (Contributor) ; Basel, Donald (Contributor) ; Novacic, Donna (Contributor) ; Bustos Velasq, Francisco (Contributor) ; Baldridge, Dustin (Contributor) ; Behrens, Edward (Contributor) ; Silverman, Edwin K. (Contributor) ; Seto, Elaine (Contributor) ; Kravets, Elijah (Contributor) ; Rosenthal, Elisabeth (Contributor) ; Worthey, Elizabeth A. 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(Contributor) ; Kobren, Shilpa N. (Contributor) ; Yamamoto, Shinya (Contributor) ; Mane, Shrikant (Contributor) ; Marwaha, Shruti (Contributor) ; Chanprasert, Sirisak (Contributor) ; Nelson, Stanley F. (Contributor) ; Zuchner, Stephan (Contributor) ; Bivona, Stephanie (Contributor) ; Ware, Stephanie M. (Contributor) ; Montgomery, Stephen B. (Contributor) ; Pak, Stephen (Contributor) ; Boyden, Steven (Contributor) ; Bachir, Suha (Contributor) ; Dasari, Surendra (Contributor) ; Korrick, Susan (Contributor) ; Sandmeyer, Suzanne (Contributor) ; Mozaffar, Tahseen (Contributor) ; Skelton, Tammi (Contributor) ; Jensen, Tanner D. (Contributor) ; Mamidi, Tarun Kk (Contributor) ; Beagle, Taylor (Contributor) ; Maurer, Taylor (Contributor) ; Serrano, Teodoro Jerves (Contributor) ; Coakley, Terra R. (Contributor) ; Cassini, Thomas (Contributor) ; Nicholas, Thomas J. (Contributor) ; Schedl, Timothy (Contributor) ; Vogel, Tiphanie P. (Contributor) ; Jobanputra, Vaidehi (Contributor) ; Maduro, Valerie V. (Contributor) ; Shashi, Vandana (Contributor) ; Vasiliou, Vasilis (Contributor) ; Sybert, Virginia (Contributor) ; Cuddapah, Vishnu (Contributor) ; Introne, Wendy (Contributor) ; Raskind, Wendy (Contributor) ; Thorson, Willa (Contributor) ; Gahl, William A. (Contributor) ; Byrd, William E. (Contributor) ; Craigen, William J. (Contributor) ; Halstead, Winston (Contributor) ; Huang, Yan (Contributor) ; Karasozen, Yigit (Contributor) ; Jiang, Yong-Hui (Contributor)

In
Genetics in medicine 27(8),

2025

ISSN1098-3600

Online
DOI: 10.1016/j.gim.2025.101462
10.1016/j.gim.2025.101462

Einrichtungen

1. Klinik und Lehrstuhl für Neurologie (535000-2)

Dokumenttyp
Journal Article

Format
online

Sprache
English

Anmerkung
Peer reviewed article

Externe Identnummern
PubMed: pmid:40417743
WOS Core Collection: WOS:001528127800001
SCOPUS: SCOPUS:2-s2.0-105009588600

Interne Identnummern
RWTH-CONV-255749
Datensatz-ID: 1031411

Lizenzstatus der Zeitschrift