Juanita Neira-Fresneda

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

J. Lupski, L. Potocki, Claudia Soler-Alfonso, 2020, American journal of medical genetics. Part A.

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia

J. V. Van Hove, Suhong Tong, S. Young, 2022, Journal of inherited metabolic disease.

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

L. Potocki, Juanita Neira-Fresneda, 2015, Journal of Pediatric Genetics.

Potocki-Lupski Syndrome

L. Potocki, Bo Yuan, Juanita Neira-Fresneda, 1993 .

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Vladimir S Fonov, Undiagnosed Diseases Network, C. Saunders, 2022, medRxiv.