Not logged in Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurelien; Waberski, Marta Biderman; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Oystein L.; Busk, Oyvind L.; Houlden, Henry; Karimiani, Ehsan Ghayoor; Toosi, Mehran Beiraghi; Badv, Reza Shervin; Torbati, Paria Najarzadeh; 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 Share Save
Colonial-driven extinction of the blue antelope despite genomic adaptation to low population size Hempel, Elisabeth; Faith, J. Tyler; Preick, Michaela; de Jager, Deon; Barish, Scott; Hartmann, Stefanie; Grau, Jose H.; Moodley, Yoshan; Gedman, Gregory; Pirovich, Kathleen Morrill; Bibi, Faysal; Kalthoff, Daniela C.; Bocklandt, Sven; Lamm, Ben; Dalen, Love; V. Westbury, Michael; Hofreiter, Michael Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, 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. Share Save
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L.; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H.; Stong, Nicholas; Kranz, Peter G.; Kansagra, Sujay; Mikati, Mohamad A.; Jasien, Joan; El-Dairi, Mays; Network, Undiagnosed Diseases; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari, Francesca; Wangler, Michael F.; Arur, Swathi; Jiang, Yong-Hui; Yamamoto, Shinya; Shashi, Vandana; Bellen, Hugo J. Share Save
Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes Moulton, Matthew J.; Barish, Scott; Ralhan, Isha; Chang, Jinlan; Goodman, Lindsey D.; Harland, Jake G.; Marcogliese, Paul C.; Johansson, Jan O.; Ioannou, Maria S.; Bellen, Hugo J. Share Save
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms Barish, Scott; Barakat, Tahsin Stefan; Michel, Brittany C.; Mashtalir, Nazar; Phillips, Jennifer B.; Valencia, Alfredo M.; Ugur, Berrak; Wegner, Jeremy; Scott, Tiana M.; Bostwick, Brett; Murdock, David R.; Dai, Hongzheng; Perenthaler, Elena; Nikoncuk, Anita; van Slegtenhorst, Marjon; Brooks, Alice S.; Keren, Boris; Nava, Caroline; Mignot, Cyril; Douglas, Jessica; Rodan, Lance; Nowak, Catherine; Ellard, Sian; Stals, Karen; Lynch, Sally Ann; Faoucher, Marie; Lesca, Gaetan; Edery, Patrick; Engleman, Kendra L.; Zhou, Dihong; Thiffault, Isabelle; Herriges, John; Gass, Jennifer; Louie, Raymond J.; Stolerman, Elliot; Washington, Camerun; Vetrini, Francesco; Otsubo, Aiko; Pratt, Victoria M.; Conboy, Erin; Treat, Kayla; Shannon, Nora; Camacho, Jose; Wakeling, Emma; Yuan, Bo; Chen, Chun-An; Rosenfeld, Jill A.; Westerfield, Monte; Wangler, Michael; Yamamoto, Shinya; Kadoch, Cigall; Scott, Daryl A.; Bellen, Hugo J. Share Save
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