David Viskochil

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Matt Velinder, Gabor Marth, Anders Pitman, 2021 .

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.

Alan Cantor, John Perentesis, David H Gutmann, 2015, Neuro-oncology.

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

Tao Wang, Emil Alexov, Brent Weatherly, 2017, The Journal of Biological Chemistry.

Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.

Arie Perry, Karlyne M. Reilly, Brigitte Widemann, 2017, Human pathology.

The neurofibromatosis type 1 gene encodes a protein related to GAP

Margaret Robertson, Jeff Stevens, Peter O'Connell, 1990, Cell.

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Joseph Muenzer, Elsa Shapiro, Janet Thomas, 2007, Molecular genetics and metabolism.