Anna CE Hurst

Associate Professor

The University of Alabama

United States

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About

Dr. Anna CE Hurst is an Associate Professor at The University of Alabama at Birmingham. Her research focuses on genomic medicine, patient experiences with genetic diagnoses, and the implications of direct-to-consumer genome sequencing. Her recent publications include studies on genetic testing utility, patient perspectives in neonatal care, and the characterization of rare genetic syndromes.

Articles (13)

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2025

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2025

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2024

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2024

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2023

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2023

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2022

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2022

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2021

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2021

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2020

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HudsonAlpha Institute for Biotechnology

UNITED STATES

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Anna CE Hurst

Research Interests

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About

Articles (13)

Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia

Direct‐to‐consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands

A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Listening to patients with suspected genetic diagnoses: A narrative perspective

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome

Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.

Dysmorphology in the Era of Genomic Diagnosis.

Collaborators (5)

Pamela Trapane

Barbara Fortini

Aixa Gonzalez

Laura Hendon

Gregory Cooper

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