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Hillary M. Porter
Institution:
Children's National
Observed institution:
Children's National
ORCID:
0000-0002-9554-8006
Observed ORCID:
0000-0002-9554-8006
OpenAlex ID:
A5049044150
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
2020
·
Kezhi Yan
, Justine Rousseau
, et al.
·
Science Advances
·
107
PDF
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
2021
·
Volkan Okur
, Zefu Chen
, et al.
·
npj Genomic Medicine
·
28
PDF
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
2022
·
Sheng‐Jia Lin
, Barbara Vona
, et al.
·
Human Mutation
·
26
Front Cover, Volume 43, Issue 10
2022
·
Sheng‐Jia Lin
, Barbara Vona
, et al.
·
Human Mutation
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Works count:
4
Citation count:
161
H-index:
3
I10-index:
3
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