Alistair Pagnamenta

University of Exeter

United Kingdom

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Articles (10)

Year:

2025

Year:

2025

Year:

2025

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Collaborators (9)

Amaka Offiah

University of Sheffield

UNITED KINGDOM

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Lara Menzies

Honorary Associate Professor

University College London

UNITED KINGDOM

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Eleanor Seaby

University of Southampton

UNITED KINGDOM

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Eduardo Calpena

University of Oxford

UNITED KINGDOM

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Jing Yu

University of Oxford

UNITED KINGDOM

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Katarina Ejeskär

Professor

University of Skövde

SWEDEN

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Alistair Pagnamenta

Research Interests

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Articles (10)

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant

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

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1

The prevalence and phenotypic range associated with biallelic PKDCC variants

Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Collaborators (9)

Amaka Offiah

Miranda Durkie

Georgios Koutsis

Lara Menzies

Eleanor Seaby

Siddharth Banka

Eduardo Calpena

Jing Yu

Katarina Ejeskär

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