Stephanie Keller
- Department of Pediatrics
Associate Professor
- (404) 785-5437
- skelle3@emory.edu
-
Children's Healthcare of Atlanta
Pediatric Neurology
1400 Tullie Rd, Suite 420
Academic Appointment
- Assistant Professor of Medicine, Emory University School of Medicine
Education
Degrees
- MD from Marshall Univ School of Medicine
- BS from Univ of Georgia
- No Degree from Georgia Perimeter College
Research
Publications
-
Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.
J Peripher Nerv Syst Volume: 30 Page(s): e70040
09/01/2025 Authors: Gnanakumar A; Aljaberi R; Laney DA; Martin C; Keller SR; Parikh SH; Verma S -
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.
Pediatr Neurol Volume: 166 Page(s): 81 - 87
05/01/2025 Authors: Le A; Thibault K-A; Yazdani PA; Bertini E; Nicita F; Pohl D; Venkateswaran S; Keller S; Renaud D; Moron DG -
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Genet Med Volume: 27 Page(s): 101425
04/05/2025 Authors: Dominguez Gonzalez CA; Spinner NB; Ahrens-Nicklas RC; Young LR; Voss LA; Reichert SL; Gallo DJ; Cohen JS; Bonkowsky JL; Keller SR -
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.
J Child Neurol Volume: 40 Page(s): 26 - 38
01/01/2025 Authors: Lentini L; Toutounchi H; Chapleau A; Le A; Fournier S; Emari F; Flamini R; Rossi A; Gentile A; Bertini E -
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Mol Genet Metab Volume: 142 Page(s): 108521
08/01/2024 Authors: Adang LA; Groeschel S; Grzyb C; D'Aiello R; Gavazzi F; Sherbini O; Bronner N; Patel A; Vincent A; Sevagamoorthy A -
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy Volume: 26 Page(s): 739 - 748
07/01/2024 Authors: Adang LA; Bonkowsky JL; Boelens JJ; Mallack E; Ahrens-Nicklas R; Bernat JA; Bley A; Burton B; Darling A; Eichler F -
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
JCI Insight Volume: 9
06/17/2024 Authors: Adang LA; D'Aiello R; Takanohashi A; Woidill S; Gavazzi F; Behrens EM; Sullivan KE; Goldbach-Mansky R; de Jesus AA; AGS Clinical Trial Readiness Workgroup -
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab Volume: 142 Page(s): 108453
05/01/2024 Authors: Adang LA; Sevagamoorthy A; Sherbini O; Fraser JL; Bonkowsky JL; Gavazzi F; D'Aiello R; Modesti NB; Yu E; Mutua S -
Systemic complications of Aicardi Goutires syndrome using real-world data.
Mol Genet Metab Volume: 143 Page(s): 108578
01/01/2024 Authors: Peixoto de Barcelos I; Jan AK; Modesti N; Woidill S; Gavazzi F; Isaacs D; D'Aiello R; Sevagamoorthy A; Charlton L; Pizzino A -
Developmental Delay Can Precede Neurologic Regression in Metachromatic Leukodystrophy
Volume: 92 Page(s): S164 - S164
10/01/2022 Authors: Adang LA; Groeschel S; Grzyb C; D'Aiello R; Sherbini O; Bronner N; Patel A; Vincent A; Jin D; Eichler F