Penelope E. Bonnen

POLRMT mutations impair mitochondrial transcription causing neurological disease

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

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

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Human genome meeting 2016

Identification of Variant-Specific Functions of <i>PIK3CA</i> by Rapid Phenotyping of Rare Mutations

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

<i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype