Ana Meireles-Beleza

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Journal: Frontiers in genetics

Published: March 15, 2024

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.

Journal: Clinical genetics

Published: June 28, 2022

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Journal: American journal of human genetics

Published: April 14, 2022

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Journal: American journal of medical genetics. Part A

Published: January 05, 2022

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Journal: American journal of human genetics

Published: November 24, 2021

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Journal: American journal of human genetics

Published: November 16, 2021

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal: Journal of human genetics

Published: December 04, 2020

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Journal: BMC medical genomics

Published: December 02, 2020

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Journal: Genome medicine

Published: September 02, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026