Hillary M Porter
2PUBLICATIONS
25CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (2)
Sort by Publication Date:
|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
