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Erin Conboy | Researchclopedia

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Erin Conboy

University of Iowa ORCID

82

Works

905

Citations

15

h-index

20

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

University of Iowa2025–2025

Indiana University Health2023–2023

Pennsylvania State University2009–2009

Mayo Clinic2015–2019

University of Indianapolis2022–2022

Top Works

Dendrite Remodeling and Other Abnormalities in the Retinal Ganglion Cells of Ins2<sup>Akita</sup>Diabetic Mice

Matthew J. Gastinger,Allen R. Kunselman,et al.

2008168 citations

Mitochondrial Function and Pathology

Metabolism and Genetic Disorders

Amyloid-β(1−42) Rapidly Forms Protofibrils and Oligomers by Distinct Pathways in Low Concentrations of Sodium Dodecylsulfate

Vijayaraghavan Rangachari,Brenda D. Moore,et al.

2007163 citations

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng,Avinash V. Dharmadhikari,et al.

201887 citations

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

Margot A. Cousin,Erin Conboy,et al.

201955 citations

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish,Tahsin Stefan Barakat,et al.

202048 citations

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective

Amber Volk,Erin Conboy,et al.

201543 citations

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

Erin Conboy,Filippo Pinto e Vairo,et al.

201739 citations

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Erin Conboy,Radhika Dhamija,et al.

201524 citations

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Filippo Pinto e Vairo,Nicole J. Boczek,et al.

201724 citations