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A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

Maria Carla Borroto, Coralie Michaud, Chloe Hudon,Pankaj B. Agrawal,Katherine Agre,Carolyn D. Applegate,Alan H. Beggs, Hans T. Bjornsson,Bert Callewaert,Mei-Jan Chen,Cynthia Curry,Orrin Devinsky,Tracy Dudding-Byth, Kelly Fagan,Candice R. Finnila,Ralitza Gavrilova,Casie A. Genetti,Susan M. Hiatt,Friedhelm Hildebrandt,Monica H. Wojcik,Tjitske Kleefstra,Caroline M. Kolvenbach,Bruce R. Korf,Paul Kruszka,Hong Li, Jessica Litwin,Julien Marcadier,Konrad Platzer,Patrick R. Blackburn,Margot R. F. Reijnders,Heiko Reutter,Ina Schanze,Joseph T. Shieh,Cathy A. Stevens,Zaheer Valivullah,Marie-Jose van den Boogaard,Eric W. Klee,Philippe M. Campeau

GENES（2024）

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关键词
neurodevelopmental disorders,intellectual disabilities,histone demethylation,KDM5,epigenetics,genetic syndromes,polygenetic interactions
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