Penelope E. Bonnen - Concepedia

Author

Penelope E. Bonnen

Also Known As

Bonnen, Penelope E., Emmanouil Dermitzakis, G. Cappuccio, Nicole Soranzo, P. E. Bonnen, P.E. Bonnen, Penelope Bonnen, Penelope E Bonnen, Penelope E. Bonnen, Penelope E. Bonnen

Publications

11K

Citations

H-Index

Concepts

All Affiliations

Baylor College of Medicine Wellcome Centre for Mitochondrial Research Newcastle University Baylor Genetics Texas Children's Hospital

About

Penelope E. Bonnen is an author at Baylor College of Medicine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	21	3.1K
2	Natural Sciences	4	4	274
3	Social Sciences	3	3	1.8K
4	Engineering	2	2	201
5	Public Health	1	1	35

Penelope E. Bonnen

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen, Nature Genetics Small Polyglutamine ExpansionsNeurobiology Of DiseaseMolecular NeuroscienceNeurophysiologyCellular Neuroscience	1997	1.6K
Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α Gonzalo Viana Di Prisco, Wei‐Chien Huang, Shelly A. Buffington, Nature Neuroscience PsychiatryBrain FunctionMedicineObject-place LearningCortical Remodeling	2014	192
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance Penelope E. Bonnen, John W. Yarham, Arnaud Besse, The American Journal of Human Genetics Mitochondrial Dna MaintenanceMitophagyMitochondrial FunctionMtdna IntegrityMitochondrial Dynamic	2013	174
Identification of Variant-Specific Functions of <i>PIK3CA</i> by Rapid Phenotyping of Rare Mutations Turgut Dogruluk, Yiu Huen Tsang, Maribel Espitia, Cancer Research EngineeringGeneticsMolecular GeneticsDisease Gene IdentificationGenomics	2015	174
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism Arnaud Besse, Ping Chun Wu, Francesco Bruni, Cell Metabolism Cellular EnzymologyBiochemistryMitochondrial FunctionMedicineNatural Sciences	2015	162
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, The American Journal of Human Genetics Bi-allelic Tango2 MutationsCardiac MuscleCardiomyopathyCardiovascular DiseaseMedicine	2016	139
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang, Molecular Genetics and Metabolism ~60,000 Human ExomesSurgical PathologyHistopathologyDiagnosisPathology	2015	115
<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population Monika Oláhová, Steven Hardy, Julie Hall, Brain	2015	105
mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities Jun Ma, Cristian Coarfa, Xiang Qin, BMC Genomics	2014	97
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, The American Journal of Human Genetics	2016	89

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