Pilar Tirado

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 15 publications

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Journal: Molecular genetics & genomic medicine

Published: May 26, 2024

Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Journal: American journal of medical genetics. Part A

Published: May 31, 2023

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.

Journal: Small GTPases

Published: March 04, 2021

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Journal: Frontiers in genetics

Published: January 12, 2021

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 07, 2021

ANO3 and early-onset dyskinetic encephalopathy.

ANO3 and early-onset dyskinetic encephalopathy.

Journal: European journal of medical genetics

Published: June 10, 2020

Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.

Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.

Journal: Molecular syndromology

Published: May 29, 2020

Genetic studies and neurodevelopment. From effectiveness to genetic models

Genetic studies and neurodevelopment. From effectiveness to genetic models

Journal: Medicina

Published: March 10, 2020

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.

Journal: Journal of neurochemistry

Published: July 04, 2019

Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents.

Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents.

Journal: Actas espanolas de psiquiatria

Published: July 01, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026