Anna Hurst

17PUBLICATIONS
192CO-AUTHORS
Autonomic nervous systemGene expression (incl. microarray and other genome-wide approaches)Haematological tumoursRural clinical healthInfant and child health
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Publications (17)

|Apr 10, 2026
Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Rasha Faraj, Audrey Farrugia, Anna C E Hurst

|Mar 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Stefan Groeneweg, Ferdy S van Geest, Mariano Martín

|Dec 02, 2024
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Min Gao, Yunjia Chen, Pongtawat Lertwilaiwittaya

|Sep 26, 2023
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.

Dorothea Siebold, Jessica Denton, Anna C E Hurst

|Jul 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

Amy A Lemke, Michelle L Thompson, Emily C Gimpel

|Jul 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang

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Frequent Collaborators

2 joint publications

David A Koolen

2 joint publications

Hakon Hakonarson

2 joint publications

Henry Houlden

1 joint publications

Philippe M Campeau