Rocio Mena

La Paz, MD 28046, Spain

Last Updated: 09/26/2026

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Found 25 publications

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Journal: Genes
Published: December 22, 2025

Improving the performance of polymerase chain reaction for microsatellite instability testing in endometrial cancer.

Improving the performance of polymerase chain reaction for microsatellite instability testing in endometrial cancer.

Journal: Scientific reports
Published: May 29, 2025

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Journal: Clinical genetics
Published: March 12, 2025

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.

Journal: NAR genomics and bioinformatics
Published: January 17, 2025

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.

Journal: International journal of molecular sciences
Published: August 30, 2023

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

Journal: Genes
Published: August 30, 2023

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Journal: Genes
Published: August 17, 2023

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Journal: International journal of molecular sciences
Published: May 25, 2023

Inherited human ezrin deficiency impairs adaptive immunity.

Inherited human ezrin deficiency impairs adaptive immunity.

Journal: The Journal of allergy and clinical immunology
Published: January 13, 2023

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Journal: Genes
Published: January 14, 2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

Journal: American journal of medical genetics. Part A
Published: October 05, 2021

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

Journal: European journal of medical genetics
Published: April 06, 2021
Showing 1-12 of 25

Last Updated: 09/26/2026