ZENTENO RUIZ, JUAN CARLOS

ZENTENO RUIZ, JUAN CARLOS

INVESTIGACIÓN MÉDICA · Nivel 3

Información*

Nombre JUAN CARLOS ZENTENO RUIZ
Área MEDICINA Y CIENCIAS DE LA SALUD
Campo INVESTIGACIÓN MÉDICA
Disciplina INVESTIGACIÓN CLÍNICA
Especialidad GENETICA
CVU 21231
Institución
Dependencia SECRETARIA GENERAL
Entidad CIUDAD DE MEXICO
Nivel 3
Vigencia Inicio: 01/01/2023
Fin: 31/12/2032

* Información del primer trimestre de 2026.
Fuente: SECIHTI.

Publicaciones ORCID

2026
Expanding the Genetic and Clinical Spectrum of GZF1‐Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome American Journal of Medical Genetics Part A
Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients Ophthalmic Genetics
The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005–2025) Orphanet Journal of Rare Diseases
2025
Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation Stem Cell Research
Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing American Journal of Medical Genetics Part A
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant American Journal of Medical Genetics Part A
2024
Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants International Ophthalmology
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants Molecular Genetics and Genomics
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach Molecular Genetics & Genomic Medicine
Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing