A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

by Jacqueline A. Romero, Imane Abdelmoumen, Daphne Hasbani, Divya S. Khurana, Michael C. Schneider
Published 2019-12-01

Missense variant contribution to USP9X-female syndrome

by Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz
Published 2020-12-01