a public good project by the
Synthesis
Company
of California

© 2026

Penelope E. Bonnen | doi.page

0 works0 citations0 h-index

Penelope E. Bonnen

Baylor College of Medicine(US)Baylor Genetics(US)

Publications by Year

Research Areas

Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, ATP Synthase and ATPases Research

Most-Cited Works

→ Integrating common and rare genetic variation in diverse human populations(2010)3,177 cited
→ Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel(1997)1,580 cited
→ Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α(2014)193 cited
→ Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations(2015)177 cited
→ Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance(2013)175 cited
→ The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism(2015)163 cited

→ Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations(2016)

140 cited

→ Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number(2016)125 cited

→ Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes(2015)119 cited

→ LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population(2015)107 cited