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Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

United Kingdom

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Research Interests

Developmental Neuroscience

30%

Clinical Psychology

10%

Medical Science

40%

Rare Disease

40%

Neurodevelopmental Disorders

20%

Osteogenesis

20%

Osteogenesis Imperfecta

10%

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Articles9

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2021

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

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Year:

2021

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

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Year:

2021

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

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Year:

2021

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

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Year:

2020

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

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Year:

2020

Collaborators10

Almundher Al‐Maawali

OMAN

Emilia Puig Lombardi

Head of Multi-Omics Analytics

Imagine Institute for Genetic Diseases

FRANCE

Vincent Cantagrel

Université Paris Cité

FRANCE

Julie Fleischer

Associate Professor

Southern Illinois University School of Medicine

UNITED STATES

Louise Bicknell

Associate Professor

University of Otago

NEW ZEALAND

Fulya Taylan

Karolinska Institutet

SWEDEN

Karen Liu

King’s College London

UNITED KINGDOM

Hans-Jürgen Kreienkamp

University Medical Center Hamburg-Eppendorf

GERMANY

Eduardo Calpena

University of Oxford

UNITED KINGDOM

Daniel Nilsson

Karolinska Institutet

SWEDEN

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