Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

United Kingdom

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Articles (9)

Year:

2022

Year:

2022

Year:

2022

Year:

2021

Year:

2021

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2021

Year:

2021

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2020

Year:

2020

Collaborators (10)

Almundher Al‐Maawali

OMAN

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Emilia Puig Lombardi

Head of Multi-Omics Analytics

Imagine Institute for Genetic Diseases

FRANCE

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Vincent Cantagrel

Université Paris Cité

FRANCE

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Julie Fleischer

Associate Professor

Southern Illinois University School of Medicine

UNITED STATES

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Louise Bicknell

Associate Professor

University of Otago

NEW ZEALAND

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Fulya Taylan

Karolinska Institutet

SWEDEN

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Karen Liu

King’s College London

UNITED KINGDOM

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Hans-Jürgen Kreienkamp

University Medical Center Hamburg-Eppendorf

GERMANY

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Eduardo Calpena

University of Oxford

UNITED KINGDOM

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Daniel Nilsson

Karolinska Institutet

SWEDEN

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Ana Beleza-Meireles

Research Interests

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Articles (9)

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

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

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

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

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

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.

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

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Collaborators (10)

Almundher Al‐Maawali

Emilia Puig Lombardi

Vincent Cantagrel

Julie Fleischer

Louise Bicknell

Fulya Taylan

Karen Liu

Hans-Jürgen Kreienkamp

Eduardo Calpena

Daniel Nilsson

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