Holly H. Zimmerman
Nebraska Medical Center(US)University of Nebraska Medical Center(US)Clemson University(US)
Publications by Year
Research Areas
Congenital heart defects research, Mitochondrial Function and Pathology, Cellular transport and secretion, Genetic Neurodegenerative Diseases, Myasthenia Gravis and Thymoma
Most-Cited Works
- → Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder(2015)204 cited
- → De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene(2018)105 cited
- → Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency(2010)92 cited
- → MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death(2016)62 cited
- → Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita(2019)46 cited
- → Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization(2017)34 cited