Article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
American journal of human genetics - 2 Aug 2018
Gregor Anne, Sadleir Lynette G, Asadollahi Reza, Azzarello-Burri Silvia, Battaglia Agatino, Ousager Lilian Bomme, Boonsawat Paranchai, Bruel Ange-Line, Buchert Rebecca, Calpena Eduardo, Cogné Benjamin, Dallapiccola Bruno, Distelmaier Felix, Elmslie Frances, Faivre Laurence, Haack Tobias B, Harrison Victoria, Henderson Alex, Hunt David, Isidor Bertrand, Joset Pascal, Kumada Satoko, Lachmeijer Augusta M A, Lees Melissa, Lynch Sally Ann, Martinez Francisco, Matsumoto Naomichi, McDougall Carey, Mefford Heather C, Miyake Noriko, Myers Candace T, Moutton Sébastien, Nesbitt Addie, Novelli Antonio, Orellana Carmen, Rauch Anita, Rosello Monica, Saida Ken, Santani Avni B, Sarkar Ajoy, Scheffer Ingrid E, Shinawi Marwan, Steindl Katharina, Symonds Joseph D, Zackai Elaine H, Reis André, Sticht Heinrich, Zweier Christiane
Abstract excerpt
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.