Not logged inTargeted long-read sequencing identifies missing disease-causing variation
Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. .png)
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SaveDe novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesLi, Dong; Strong, Alanna; Shen, Kaitlyn M.; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D. J.; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth Share Save Share Save Share Save Share Save Five children with deletions of 1p34.3 encompassing AGO1 and AGO3Tokita, Mari J.; Chow, Penny M.; Mirzaa, Ghayda; Dikow, Nicola; Maas, Bianca; Isidor, Bertrand; Le Caignec, Cedric; Penney, Lynette S.; Mazzotta, Giovanni; Bernardini, Laura; Filippi, Tiziana; Battaglia, Agatino; Donti, Emilio; Earl, Dawn; Prontera, Paolo Share Save 
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