Publications by authors named "Anna Ce 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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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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