Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

por Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard
Publicado 2022

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

por Neighbors, Addison, Moss, Tonya, Holloway, Lynda, Yu, Seok‐Ho, Annese, Fran, Skinner, Steve, Saneto, Russell, Steet, Richard
Publicado 2020

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

por May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., Kim, Cheol-Hee
Publicado 2015