Publications by authors named "Steven Estes"

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Novel Intragenic Duplication of GATAD2B in a Patient With GAND.
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde

Am J Med Genet A· December 2025

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A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
Brandon S Stone, Swetha Ramadesikan, Regan McGinley, Scott E Hickey, Leeran B Dublin-Ryan, Steven I Estes

Am J Med Genet A· October 2025

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Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.
Rebekah Rushforth, Kurt Reynolds, Steven I Estes, Daniel K Nolan, Mari Mori

HGG Adv· September 2025

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Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis.
Minh T Pham, John D Mahan, Summit H Shah, Steven I Estes, Stephen G Kaler

JCEM Case Rep· March 2025

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Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
Steven I Estes, Dan Ye, Wei Zhou, Steven M Dotzler, David J Tester

Circ Genom Precis Med· August 2019

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The Workload Curve: Subjective Mental Workload.
Steven Estes

Hum Factors· November 2015

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