Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

Autor: Nil, Zelha, Deshwar, Ashish R., Huang, Yan, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G., Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J., Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F., Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J.

Publikováno v: In The American Journal of Human Genetics 2 November 2023 110(11):1919-1937

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Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders

Autor: Olsen, Cathrine Goberg, Busk, Øyvind, Holla, Øystein Lunde, Tveten, Kristian, Holmøy, Trygve, Tysnes, Ole-Bjørn, Høyer, Helle

Publikováno v: Olsen, Cathrine Goberg Busk, Øyvind Holla, Øystein Lunde Tveten, Kristian Holmøy, Trygve Tysnes, Ole-Bjørn Høyer, Helle . Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2023
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Externí odkaz: http://hdl.handle.net/10852/108257

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Autor: Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

Publikováno v: In The American Journal of Human Genetics 7 November 2024 111(11):2566-2581

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