Karen Russell Schmidt

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C. Ballif, Aaron Theisen, Justine Coppinger et al. · Molecular Cytogenetics · 2008 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Andrés Moreno-De-Luca, Hui Mao, Thomas G. Burns et al. · Journal of Medical Genetics · 2010 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disruption of <i>DMD</i> and deletion of <i>ACSL4</i> causing developmental delay, hypotonia, and multiple congenital anomalies

Shambhu S. Bhat, Karen Russell Schmidt, Sydney Ladd et al. · Cytogenetic and Genome Research · 2005 · 27 citations

Life Sciences, Genetics, Molecular Genetics +17