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Anna Mª Cueto-González

Has grant

Médico Consulta Genética Clínica

Hospital Universitari Vall d'Hebron

Spain

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Professors in Spain

Recent Grants

Grant: Close

Early Treatment for children with mental health problems and Genetic Abnormalities through a Parenting intervention (The GAP): a pragmatic randomized controlled trial

Open Date: 2023-01-01

Close Date: 2026-01-01

Grant: Close

Estudio piloto de implementación de una herramienta de cribado para la prevención, diagnóstico y tratamiento de pacientes con un trastorno psiquiátrico del neurodesarrollo: utilización del síndrome 22q11.2 (22q11.2DS) como modelo”

Open Date: 2022-01-01

Close Date: 2024-01-01

Grant: Close

Detection of structural genetic factors that modify the phenotype in a population with congenital defects

Open Date: 2021-01-01

Close Date: 2025-06-01

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Collaborators (24)

Anna Ruiz

Institute of Research and Innovation Parc Tauli

SPAIN

Anna Mª Cueto-González

Research Interests

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Recent Grants

Articles (20)

Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant

Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathy.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

PUF60-related developmental disorder

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases

Neurogenic defects occur in LRIG2-associated urinary bladder disease

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

Collaborators (24)

Anna Ruiz

Nicola Brunetti-Pierri

Agnes Bloch-Zupan

Nayana Lahiri

Mercedes Serrano

Feliciano Jesús Ramos Fuentes

Alfredo Brusco

Pablo Prieto-Matos

Tzung-Chien Hsieh

Nichole Link

Heiko Brennenstuhl

Marie-Pierre Bousquet

Àlex Bayés

Philippe Campeau

Michiel van Wijk

Frederic Laumonnier

Karen Low

Ilaria Parenti

Jane Waite

Neil Roberts

Siddharth Banka

Flavio Faletra

Doriana Misceo

Miguel Del Campo Casanelles

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