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Amy E. Dameron
Observed names:
Amy Dameron,
Dameron, Amy
OpenAlex ID:
A5048367166
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
2016
·
Volkan Okur
, Megan T. Cho
, et al.
·
Human Genetics
·
85
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
2020
·
Laure Asselin
, José Rivera Alvarez
, et al.
·
Nature Communications
·
53
PDF
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype
2025
·
Leah Rowe
, Sureni V. Mullegama
, et al.
·
Human Genetics and Genomics Advances
·
3
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
2025
·
Bobbi McGivern
, Tess Holling
, et al.
·
Human Genetics and Genomics Advances
·
2
Enhancing variant curation guidelines to optimize clinical genetic testing for ABCA4 retinopathies utilizing the ClinGen framework
2024
·
Lee, Kristy
, Waddell, Amber
, et al.
·
Ghent University Academic Bibliography (Ghent University)
PDF
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Works count:
5
Citation count:
143
H-index:
3
I10-index:
2
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