Borroto, Maria Carla; Michaud, Coralie; Hudon, Chloé; Agrawal, Pankaj B.; Agre, Katherine; Applegate, Carolyn D.; Beggs, Alan H.; Björnsson, Hans Tómas; Callewaert, Bert; Chen, Mei Jan; Curry, Cynthia; Devinsky, Orrin; Dudding-Byth, Tracy; Fagan, Kelly; Finnila, Candice R.; Gavrilova, Ralitza; Genetti, Casie A.; Hiatt, Susan M.; Hildebrandt, Friedhelm; Wojcik, Monica H.; Kleefstra, Tjitske; Kolvenbach, Caroline M.; Korf, Bruce R.; Kruszka, Paul; Li, Hong; Litwin, Jessica; Marcadier, Julien; Platzer, Konrad; Blackburn, Patrick R.; Reijnders, Margot R.F.; Reutter, Heiko; Schanze, Ina; Shieh, Joseph T.; Stevens, Cathy A.; Valivullah, Zaheer; van den Boogaard, Marie José; Klee, Eric W.; Campeau, Philippe M.
(2024-08)
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, ...