Luis Alberto Pérez-Jurado

20PUBLICATIONS
73CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Cancer geneticsGene mappingCancer diagnosisDevelopmental genetics (incl. sex determination)
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Publications (20)

|Dec 30, 2025
Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.

Albert Alegret-García, Alejandro Cáceres, Marta Sevilla-Porras

|Feb 22, 2025
Defective X-chromosome inactivation and cancer risk in women.

Alejandro Cáceres, Luis A Pérez-Jurado, Albert Alegret-García

|Sep 14, 2024
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

Erta Zykaj, Chelsea Abboud, Paria Asadi

|Feb 20, 2024
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2.

Luis A Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón

|Feb 15, 2024
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Zain Awamleh, Sanaa Choufani, Wendy Wu

|Feb 15, 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu

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Frequent Collaborators

4 joint publications

Mark A Corbett

4 joint publications

Juan R González

3 joint publications

Clare L van Eyk

3 joint publications

Mitchell J Machiela