Publications by authors named "Anna C Hurst"

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Anna Ce Hurst

J Clin Invest· November 2025

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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, Mafalda Dias, Jonathan Frazer, Anna C Hurst

Nat Commun· March 2025

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Anna Ce Hurst

J Clin Invest· January 2024

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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Stephanie A Felker, James Mj Lawlor, Susan M Hiatt, Michelle L Thompson, Donald R Latner, Anna Ce Hurst

bioRxiv· January 2023

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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Geeske M van Woerden, Richelle Senden, Charlotte de Konink, Rossella A Trezza, Anwar Baban, Anna C Hurst

Hum Mutat· October 2022

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Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Anna C Hurst

Am J Med Genet A· December 2021

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Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.
Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, Anna C Hurst

Sci Adv· December 2020

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Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.
Joshua D Bernstock, Arthur H Totten, Abdel G Elkahloun, Kory R Johnson, Anna C Hurst

J Allergy Clin Immunol· January 2020

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Foramen magnum compression in Coffin-Lowry syndrome: A case report.
Jariya Upadia, Jerry Oakes, Austin Hamm, Anna C E Hurst, Nathaniel H Robin

Am J Med Genet A· April 2017

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