Fernando Santos-Simarro

12PUBLICATIONS
48CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mappingAdolescent healthEvolution of developmental systemsMedical infection agents (incl. prions)
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Publications (12)

|Nov 03, 2026
A Novel Deep-Intronic Variant in HES7 Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis.

|Dec 02, 2024
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.

Xavier Vendrell, Anna Abulí, Clara Serra

|Apr 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro

|Jul 02, 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.

Marta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon

|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

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Frequent Collaborators

6 joint publications

Maria Palomares-Bralo

4 joint publications

Karen E Heath

4 joint publications

Mario Solís

3 joint publications

Silvia Modamio-Høybjør