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Aixa Gonzalez-Garcia

Assistant Professor of Pediatrics · University of Arkansas for Medical Sciences (UAMS) College of Medicine

Credentials: · · · · · ·

History

Medical Biochemical Genetics
2021–2022
Emory University Hospital
2020–2021
Pediatrics
Emory University School of Medicine
2018–2020
Nicklaus Children's Hospital
2017–2018
Medical Genetics and Genomics
Medical Genetics
2015–2017
Kaplan Test Prep & Admissions (Medical) - 2014 Universidad Central de Venezuela -
2010–2014

Research

Novel PLEC gene variants causing congenital myasthenic syndrome
Case report · Muscle & Nerve · 2019 · First of 5 authors · 11 citations
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation
Case report · Cold Spring Harbor molecular case studies · 2020 · First of 3 authors · 8 citations
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
The American Journal of Human Genetics · 2026

Alexandra Buonomo
1 paper
Bethany Robinette
1 paper
Brianna Berlin
1 paper
Caleb Bupp
1 paper
Colin Ellis
1 paper
EM
Elysa Marco
1 paper
Emily Boothe
1 paper
Jillian McKee
1 paper
Kapil Arya
1 paper
Laura Hendon
1 paper
MT
Michelle Tutmaher
1 paper · 1 as a resident
Praveen Ramani
1 paper · 1 as a fellow