A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

por Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
Publicado 2018

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

por Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.
Publicado 2020

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

por Marhabaie, Mohammad, Hickey, Scott E., Miller, Katherine, Grischow, Olivia, Schieffer, Kathleen M., Franklin, Samuel J., Gordon, David M., Choi, Samantha, Mihalic Mosher, Theresa, White, Peter, Koboldt, Daniel C., Wilson, Richard K.
Publicado 2021