Publications by authors named "Hillary M Porter"

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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Sheng-Jia Lin, Barbara Vona, Hillary M Porter, Mahmoud Izadi, Kevin Huang

Hum Mutat· October 2022

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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Hillary M Porter

NPJ Genom Med· December 2021

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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Kezhi Yan, Justine Rousseau, Keren Machol, Laura A Cross, Katherine E Agre, Hillary M Porter

Sci Adv· January 2020

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