Eduardo Calpena

University of Oxford

United Kingdom

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Articles (13)

Year:

2024

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2024

Year:

2023

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2023

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2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

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2021

Collaborators (16)

Yang Pei

University of Oxford

UNITED KINGDOM

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Charlotte Brasch Andersen

Asso. professor

University of Southern Denmark

DENMARK

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Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

UNITED KINGDOM

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Simon McGowan

University of Oxford

UNITED KINGDOM

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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Kate Lines

University of Oxford

UNITED KINGDOM

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Pascal Maire

INSERM

FRANCE

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Elizabeth Ormondroyd

UNITED KINGDOM

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Alistair Pagnamenta

University of Exeter

UNITED KINGDOM

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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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KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Samantha Knight

Head of Clinical Academic Development

University of Oxford

UNITED KINGDOM

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Andrew Wilkie

University of Oxford

UNITED KINGDOM

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Niko Popitsch

Universität Wien

AUSTRIA

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Eduardo Calpena

Research Interests

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Articles (13)

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

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

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disorders.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Collaborators (16)

Yang Pei

Charlotte Brasch Andersen

Ana Beleza-Meireles

Simon McGowan

Miranda Durkie

Kate Lines

Pascal Maire

Elizabeth Ormondroyd

Alistair Pagnamenta

Julie Fleischer

Louise Bicknell

KATHERINE LACHLAN

Siddharth Banka

Samantha Knight

Andrew Wilkie

Niko Popitsch

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