Juanita N. Neira-Fresneda
Medical Genetics | Pediatrics
1365 Clifton Rd Ne
Building B Suite 2200
Atlanta, GA 30322
Building B Suite 2200
Atlanta, GA 30322
Last Updated: 09/26/2026
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Found 9 publications
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: Nature communications
Published: August 09, 2023
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
Journal: International journal of neonatal screening
Published: June 16, 2023
PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review.
Journal: Pediatric neurology
Published: May 29, 2022
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
Journal: Journal of inherited metabolic disease
Published: February 23, 2022
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Journal: American journal of human genetics
Published: January 15, 2021
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Journal: American journal of medical genetics. Part A
Published: October 17, 2019
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.
Journal: Journal of pediatric genetics
Published: June 19, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026