Stephanie A. Felker - Publications, H-index & Citations

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Stephanie A. Felker

HudsonAlpha Institute for Biotechnology

6H-index

25Paper Count

162Citation Count

Published Papers 10

Publication Date

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

Genetics in Medicine

IF6.2

2025-11-20

PREAI

Stephanie A. Felker; Bruce R. Korf; Gregory S. Barsh

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Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

FRONTIERS IN GENETICS

IF2.8

2024-12-16

OAAI

Gordon, Emily R.; Felker, Stephanie A.; Coleman, Tanner F.; Sosonkina, Nadiya; Pugh, Jada; Cochran, Meagan E.; Hurst, Anna C. E.; Cooper, Sara J.

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Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs

GENOME RESEARCH

IF5.5

2024-08-16

PREAI

Anderson, Ashlyn G.; Moyers, Belle A.; Loupe, Jacob M.; Rodriguez-Nunez, Ivan; Felker, Stephanie A.; Lawlor, James M. J.; Bunney, William E.; Bunney, Blynn G.; Cartagena, Preston M.; Sequeira, Adolfo; Watson, Stanley J.; Akil, Huda; Mendenhall, Eric M.; Cooper, Gregory M.; Myers, Richard M.

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

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Felker, Stephanie A.; Lawlor, James M. J.; Hiatt, Susan M.; Thompson, Michelle L.; Latner, Donald R.; Finnila, Candice R.; Bowling, Kevin M.; Bonnstetter, Zachary T.; Bonini, Katherine E.; Kelly, Nicole R.; V. Kelley, Whitley; Hurst, Anna C. E.; Rashid, Salman; Kelly, Melissa A.; Nakouzi, Ghunwa; Hendon, Laura G.; Bebin, E. Martina; Kenny, Eimear E.; Cooper, Gregory M.

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

JOURNAL OF PERSONALIZED MEDICINE

IF3

2023-06-21

OAAI

Lemke, Amy A.; Thompson, Michelle L.; Gimpel, Emily C.; McNamara, Katelyn C.; Rich, Carla A.; Finnila, Candice R.; Cochran, Meagan E.; Lawlor, James M. J.; East, Kelly M.; Bowling, Kevin M.; Latner, Donald R.; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley V.; Greve, Veronica; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Hughes, Trent; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kirmse, Brian M.; Savich, Renate; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.; Brothers, Kyle B.

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-02-01

OAAI

Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.

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

GENETICS IN MEDICINE

IF6.2

2022-04-01

OAAI

Bowling, Kevin M.; Thompson, Michelle L.; Finnila, Candice R.; Hiatt, Susan M.; Latner, Donald R.; Amaral, Michelle D.; Lawlor, James M. J.; East, Kelly M.; Cochran, Meagan E.; Greve, Veronica; Kelley, Whitley, V; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kandasamy, Jegen; Carlo, Wally; Brothers, Kyle B.; Kirmse, Brian M.; Savich, Renate; Superneau, Duane; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.

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Parental impact of genome sequencing during the neonatal period

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Brothers, Kyle; Rich, Carla; Gimpel, Emily; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Jackson, Kelly; Hendon, Laura; Luedecke, Amanda; Janani, Hillary; Meddaugh, Hannah; Latner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; Gray, David; Felker, Stephanie; Cannon, Ashley; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory

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The clinical significance of poisoned splicing variants in early-onset neurodevelopmental disorders

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Felker, Stephanie; Lawlor, James; Latner, Donald; Thompson, Michelle; Bowling, Kevin; Hiatt, Susan; Finnila, Candice; Cooper, Gregory

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SouthSeq: Genome sequencing for a diverse population of hospitalized infants

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Latner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Gray, David; Felker, Stephanie; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly; Hendon, Laura; Janani, Hillary; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Brothers, Kyle; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory

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Research Directions