Alejandra Tamayo

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Juan‐Manuel Bonet‐Fernández, José‐Daniel Aroca‐Aguilar, Marta Cortón et al. · Human Genetics · 2020 · 45 citations · Full text

Ocular Disease, Developmental Biology, Retina +7

Transient <i>PAX8</i> Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus

Alejandro Martín‐Montalvo, Livia López–Noriega, Carmen M. Jiménez-Moreno et al. · Diabetes · 2018 · 22 citations · Full text

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

Alejandra Damián, Gonzalo Núñez‐Moreno, Claire Jubin et al. · Human Genomics · 2023 · 19 citations · Full text

Activation of cryptic donor splice sites by non-coding and coding <i>PAX6</i> variants contributes to congenital aniridia

M. Tarilonte, Patrícia Locosque Ramos, Jennifer Moya et al. · Journal of Medical Genetics · 2021 · 12 citations

Allelic Variant, Developmental Biology, Somatic Variant +14

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Alejandra Tamayo, Gonzalo Núñez‐Moreno, Carolina Ruiz et al. · International Journal of Molecular Sciences · 2023 · 11 citations · Full text