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Juanita Neira‐Fresneda

Observed names: Juanita Neira Fresneda, Juanita Neira-Fresneda, Neira-Fresneda, Juanita
OpenAlex ID: A5038170115
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes
2015 · Juanita Neira-Fresneda, Lorraine Potocki · Journal of Pediatric Genetics · 65
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
2021 · Anna R. Duncan, Maya M. Polovitskaya, et al. · The American Journal of Human Genetics · 50
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia
2022 · Michael A. Swanson, Kristen Miller, et al. · Journal of Inherited Metabolic Disease · 29
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024 · Emily Banks, Vincent Francis, et al. · Nature Communications · 13
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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
2024 · Intisar Koch, Maya Slovik, et al. · Life Science Alliance · 10
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Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS
2020 · Rachel Franciskovich, Claudia Soler‐Alfonso, et al. · American Journal of Medical Genetics Part A · 9
PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review
2022 · Claudia Ocampo-Chih, Hailey Dennis, et al. · Pediatric Neurology · 5
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives
2023 · Sarah Crawford, Elizabeth Sablon, et al. · International Journal of Neonatal Screening · 1
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Hyperammonemia as the first clue: Dual diagnosis of lysinuric protein intolerance and a SOX2-related disorder in an infant with global developmental delay
2026 · Irma Payan-Walters, Alyssa Rippert, et al. · Molecular Genetics and Metabolism
Expanding the spectrum of ATAD3-related mitochondrial disease: A single-center case series
2026 · Michelle McCrone, Dong Li, et al. · Molecular Genetics and Metabolism
P167: Snyder-Robinson syndrome: An ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic*
2024 · Kaitlin Weisshappel, Juanita Neira Fresneda, et al. · Genetics in Medicine Open
P010: The impact of very long-chain Acyl-CoA dehydrogenase deficiency on the family
2023 · Sarah Crawford, Juanita Neira Fresneda, et al. · Genetics in Medicine Open
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Figure 1. [Individuals with Potocki-Lupski syndrome. The...].
2017 · Lorraine Potocki, Juanita Neira‐Fresneda, et al.
Works count: 14
Citation count: 182
H-index: 6
I10-index: 5
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