Villafuerte-De la Cruz, Rocío Adriana

academic article in scopus

• RPGR-Related Retinal Dystrophy in Latin America¿A Collaborative Study.  American Journal of Ophthalmology.  2025
• A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report Variante patogénica de KMT2D c.6341del (p.Gly2114Alafs*30) y evaluación multimodal de su fenotipo en una mujer hispano-mexicana con síndrome de Kabuki: informe de una nueva variante.  Archivos de la Sociedad Espanola de Oftalmologia.  2025
• Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case ¿Debe considerarse el síndrome XYY en el diagnóstico diferencial de la miopía sindrómica? A propósito de un caso.  Archivos de la Sociedad Espanola de Oftalmologia.  2025
• Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.  Molecular Genetics and Genomics.  2024
• Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.  BMC Ophthalmology.  2024
• Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.  Ophthalmic Genetics.  2024
• Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.  Frontiers in Genetics.  13. 2022
• Novel RB1 germline mutation in a healthy man.  Ophthalmic Genetics.  43:561-566. 2022
• Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.  Journal of Human Genetics.  63:1169-1180. 2018
• Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC.  Archivos de la Sociedad Espanola de Oftalmologia.  93:562-566. 2018