Julie R Jones

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

S. Scherer, J. Vincent, M. Friez, 2004, Nature Genetics.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

J. Opitz, R. Stevenson, C. Schwartz, 2007, Nature Genetics.