Erin Conboy - Concepedia

Author

Erin Conboy

Also Known As

Conboy, Erin, Cope, Heidi, E. Conboy, Eric Vilain, Erica E. Davis, Erin Conboy, Erin Conboy, Erin E. Conboy, F. Sessions Cole, conboy, erin

Publications

886

Citations

H-Index

Concepts

All Affiliations

Mayo Clinic in Florida Mayo Clinic Mayo Clinic in Arizona Howard Hughes Medical Institute Heidelberg University

About

Erin Conboy is an author at Mayo Clinic in Florida specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	269
2	Health Sciences	1	1	11
3	Anatomy	1	1	11
4	Applied Physiology	1	1	11
5	Exercise Physiology	1	1	11

Erin Conboy

Publications

704

Citations

H-Index

Page 1

	Year	Citations
Dendrite Remodeling and Other Abnormalities in the Retinal Ganglion Cells of Ins2<sup>Akita</sup>Diabetic Mice Matthew J. Gastinger, Allen R. Kunselman, Erin Conboy, Investigative Ophthalmology & Visual Science	2008	167
Amyloid-β(1−42) Rapidly Forms Protofibrils and Oligomers by Distinct Pathways in Low Concentrations of Sodium Dodecylsulfate Vijayaraghavan Rangachari, Brenda D. Moore, Dana Kim Reed, Biochemistry	2007	163
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologySyndromic AutismGenetic Disorder	2018	85
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities Margot A. Cousin, Erin Conboy, Jian‐She Wang, The American Journal of Human Genetics Skeletal AbnormalitiesDevelopmental BiologyHepatologyLiver PhysiologyGenetics	2019	55
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, The American Journal of Human Genetics Functional GenomicsDisease MechanismGenetic DisorderGeneticsSwi/snf Complex Member	2020	48
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines Erin Conboy, Radhika Dhamija, Margaret Wang, Journal of Medical Genetics	2015	24
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients Filippo Pinto e Vairo, Nicole J. Boczek, Margot A. Cousin, Molecular Genetics and Metabolism Reports	2017	24
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed Fateh Bazerbachi, Erin Conboy, Taofic Mounajjed, Annals of Hepatology Liver InvolvementGeneticsImmunologyGastroenterologyPathology	2017	20
Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review Janice Cho, Joseph C. Y. Chen, Jonas Paludo, Journal of Gastrointestinal Oncology Translational MedicineFibrolamellar Hepatocellular CarcinomaHepatologyAutoimmune DiseaseLiterature Review	2019	19
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype Erin Conboy, Duygu Selcen, Michael A. Brodsky, Seminars in Pediatric Neurology Neurodegenerative DiseasesMendelian DisorderMitochondrial FunctionNovel Homozygous VariantMitochondrial Dynamic	2018	18

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