Alejandra Tamayo
Alcala De Henares, MD 28871, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Journal: Human genetics
Published: July 04, 2023
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Journal: Human genomics
Published: March 03, 2023
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Journal: Human genetics
Published: December 02, 2022
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Journal: International journal of molecular sciences
Published: December 01, 2022
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Journal: International journal of molecular sciences
Published: September 29, 2021
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
Journal: Journal of medical genetics
Published: February 20, 2020
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Journal: Human genetics
Published: January 27, 2020
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.
Journal: Diabetes
Published: March 08, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026