Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria by Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly

Get full text

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9 by Randy J. Chandler, Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts, Irini Manoli, John A. Chiorini, Charles P. Venditti

Get full text

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency by Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang

Get full text

Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia by Randy J. Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N. Smith, Jennifer L. Sloan, Victoria Hoffmann, Lina Li, John A. Chiorini, Charles P. Venditti

Get full text

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis. by Alexander Pemov, Heejong Sung, Paula L Hyland, Jennifer L Sloan, Sarah L Ruppert, Andrea M Baldwin, Joseph F Boland, Sara E Bass, Hyo Jung Lee, Kristine M Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C Mullikin, Brigitte C Widemann, Alexander F Wilson, Douglas R Stewart

Get full text