Stephanie A. Felker

Genome sequencing as a first-line diagnostic test for hospitalized infants

Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila et al. · Genetics in Medicine · 2021 · 54 citations · Full text

Early Diagnosis, Neonatology, Newborn Screening +7

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 et al. · PLoS Genetics · 2021 · 31 citations · Full text

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt et al. · Genetics in Medicine · 2023 · 17 citations · Full text

Bioinformatics, Genetic Analysis, Genetic Testing +14

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano et al. · The American Journal of Human Genetics · 2022 · 15 citations · Full text

Developmental Biology, Neurodevelopmental Delay Phenotype, Brain Development +12

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel et al. · Journal of Personalized Medicine · 2023 · 13 citations · Full text