Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

Por Harris, Bronwyn, Pfotenhauer, Jean P., Silverstein, Cheri A., Markham, Larry W., Schafer, Kim, Exil, Vernat J., Hong, Charles C.
Publicado em 2010

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant

Por Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.
Publicado em 2011

Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree with Familial Dilated Cardiomyopathy

Por Wells, Quinn S., Becker, Jason R., Su, Yan R., Mosley, Jonathan D., Weeke, Peter, D'Aoust, Laura, Ausborn, Natalie L., Ramirez, Andrea H., Pfotenhauer, Jean P., Naftilan, Allen J., Markham, Larry, Exil, Vernat, Roden, Dan M., Hong, Charles C.
Publicado em 2013

USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder

Por Hao, Yi-Heng, Fountain, Michael D., Tacer, Klementina Fon, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Caignec, Cédric Le, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan
Publicado no Mol Cell (2015)

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Por Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.
Publicado em 2010