Stephanie A Felker
6PUBLICATIONS
38CO-AUTHORS
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Publications (6)
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|Apr 01, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao
|Mar 10, 2025
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.Stephanie A Felker, Bruce R Korf, Gregory S Barsh
|Aug 16, 2024
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs.Ashlyn G Anderson, Belle A Moyers, Jacob M Loupe
|Nov 14, 2023
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.Owen R Hirschi, Stephanie A Felker, Surya P Rednam
|Jul 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.Amy A Lemke, Michelle L Thompson, Emily C Gimpel
|Jan 07, 2021
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker
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Frequent Collaborators
3 joint publications
Gregory M Cooper
2 joint publications
Richard M Myers
2 joint publications
Gregory S Barsh
2 joint publications
James M J Lawlor
1 joint publications
Yuliya Voskobiynyk
1 joint publications
Gopal Battu
1 joint publications
J Nicholas Cochran
1 joint publications
Megan P Newton
1 joint publications
Laura J Lambert
1 joint publications
Robert A Kesterson
