Holly H. Zimmerman

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

Christopher W. Carr, Daniel Moreno‐De‐Luca, Colette C. Parker et al. · European Journal of Human Genetics · 2010 · 92 citations · Full text

Medicine, Neurology, Pediatrics +17

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, F.‐Nora Vögtle et al. · Genome Medicine · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo et al. · Human Mutation · 2019 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9