Article

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

American journal of human genetics - 1 Sept 2016

Kim Jung-Hyun, Shinde Deepali N, Reijnders Margot R F, Hauser Natalie S, Belmonte Rebecca L, Wilson Gregory R, Bosch Daniëlle G M, Bubulya Paula A, Shashi Vandana, Petrovski Slavé, Stone Joshua K, Park Eun Young, Veltman Joris A, Sinnema Margje, Stumpel Connie T R M, Draaisma Jos M, Nicolai Joost, Yntema Helger G, Lindstrom Kristin, de Vries Bert B A, Jewett Tamison, Santoro Stephanie L, Vogt Julie, Bachman Kristine K, Seeley Andrea H, Krokosky Alyson, Turner Clesson, Rohena Luis, Hempel Maja, Kortüm Fanny, Lessel Davor, Neu Axel, Strom Tim M, Wieczorek Dagmar, Bramswig Nuria, Laccone Franco A, Behunova Jana, Rehder Helga, Gordon Christopher T, Rio Marlène, Romana Serge, Tang Sha, El-Khechen Dima, Cho Megan T, McWalter Kirsty, Douglas Ganka, Baskin Berivan, Begtrup Amber, Funari Tara, Schoch Kelly, Stegmann Alexander P A, Stevens Servi J C, Zhang Dong-Er, Traver David, Yao Xu, MacArthur Daniel G, Brunner Han G, Mancini Grazia M, Myers Richard M, Owen Laurie B, Lim Ssang-Taek, Stachura David L, Vissers Lisenka E L M, Ahn Eun-Young Erin