Victor Faundes
Santiago, RM, Chile
Last Updated: 09/26/2026
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Found 48 publications
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.
Journal: Clinical genetics
Published: May 12, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.
Journal: Clinical genetics
Published: January 06, 2026
Temple Syndrome Is a Frequent Differential Diagnosis of Silver-Russell Syndrome, but Infrequently Suspected in Chile.
Journal: American journal of medical genetics. Part A
Published: October 07, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Journal: Developmental biology
Published: September 19, 2025
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
Journal: American journal of medical genetics. Part A
Published: July 31, 2025
Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.
Journal: Frontiers in genetics
Published: July 25, 2025
Translating multi-omics into healthcare: requisites for scalable and equitable implementation.
Journal: Human genomics
Published: June 24, 2025
Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome.
Journal: Frontiers in molecular biosciences
Published: January 15, 2025
Last Updated: 09/26/2026