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Hillary M Porter

2PUBLICATIONS
25CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (2)

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|Jul 11, 2022
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

|Dec 08, 2021
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

Pageof 1

Frequent Collaborators

2 joint publications

Jill Rosenfeld

1 joint publications

Shayna Svihovec

1 joint publications

Christina L Grant

1 joint publications

Daryl A Scott

1 joint publications

James R Lupski

1 joint publications

Nan Wu

1 joint publications

Bo Yuan

1 joint publications

Sheng-Jia Lin

1 joint publications

Barbara Vona

1 joint publications

Mahmoud Izadi

Frequent Collaborators

2 joint publications

Jill Rosenfeld

1 joint publications

Shayna Svihovec

1 joint publications

Christina L Grant

1 joint publications

Daryl A Scott

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