Publications by authors named "Matina Prapa"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Matina Prapa

Am J Hum Genet· November 2025

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Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Susan Walker, David J Bunyan, Huw B Thomas, Yesim Kesim, Christopher J Kershaw, Matina Prapa

Genet Med· September 2025

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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Harriet Copeland, Karen J Low, Sarah L Wynn, Ayesha Ahmed, Victoria Arthur, Matina Prapa

Genet Med Open· October 2024

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Human Genetics of Semilunar Valve and Aortic Arch Anomalies.
Matina Prapa, Siew Yen Ho

Adv Exp Med Biol· June 2024

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Carrie L Welch, Micheala A Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A Eichstaedt, Matina Prapa

Genet Med· November 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Matina Prapa

Am J Hum Genet· June 2023

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Molecular Function and Contribution of in Development and Disease.
Justyna A Karolak, Carrie L Welch, Christian Mosimann, Katarzyna Bzdęga, James D West, Matina Prapa

Am J Respir Crit Care Med· April 2023

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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Matina Prapa, Mauro Lago-Docampo, Emilia M Swietlik, David Montani, Mélanie Eyries

Am J Respir Crit Care Med· December 2022

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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.
Emilia M Swietlik, Matina Prapa, Jennifer M Martin, Divya Pandya, Kathryn Auckland

Genes (Basel)· November 2020

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Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Katrina Andrews, Matina Prapa, Elizabeth Radford, Ingrid Simonic, Simon Holden

Arch Dis Child· October 2020

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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Emily Staples, Ilenia Simeoni, Jonathan C Stephens, Hana Lango Allen, , Matina Prapa

Clin Immunol· June 2020

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Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Adam Truelove, Akhilesh Mulay, Matina Prapa, Ruth T Casey, Amanda I Adler

Am J Med Genet A· July 2019

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The use of panel testing in familial breast and ovarian cancer.
Matina Prapa, Joyce Solomons, Marc Tischkowitz

Clin Med (Lond)· December 2017

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Tachycardia-induced cardiomyopathy in pregnancy.
Anil C Joseph, Matina Prapa, Pierpaolo Pellicori, Thato Mabote, Mansoor Nasir

J Cardiovasc Med (Hagerstown)· October 2016

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Histopathology of the great vessels in patients with pulmonary arterial hypertension in association with congenital heart disease: large pulmonary arteries matter too.
Matina Prapa, Karen P McCarthy, Konstantinos Dimopoulos, Mary N Sheppard, Dimitra Krexi

Int J Cardiol· October 2013

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Detrimental impact of socioeconomic status on exercise capacity in adults with congenital heart disease.
Gerhard-Paul Diller, Ryo Inuzuka, Aleksander Kempny, Rafael Alonso-Gonzalez, Emmanouil Liodakis, Matina Prapa

Int J Cardiol· April 2013

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Peak oxygen uptake correlates with disease severity and predicts outcome in adult patients with Ebstein's anomaly of the tricuspid valve.
Jelena Radojevic, Ryo Inuzuka, Rafael Alonso-Gonzalez, Francesco Borgia, Georgios Giannakoulas, Matina Prapa

Int J Cardiol· March 2013

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Giant saphenous vein graft aneurysm compressing right ventricular outflow tract and main pulmonary artery.
Rodrigo Fernández-Jiménez, Aleksander Kempny, Matina Prapa, Mohamed Amrani, Richard Trimlett

Circulation· February 2013

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Arterial switch repair to transposition of great arteries: so far so good.
Matina Prapa, Konstantinos Dimopoulos

Int J Cardiol· September 2012

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Risk stratification in bicuspid aortic valve disease: still more work to do.
Matina Prapa, Siew Yen Ho

Eur J Cardiothorac Surg· February 2012

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Exercise intolerance in patients with congenitally corrected transposition of the great arteries relates to right ventricular filling pressures.
Edgar L W Tay, Alexandra Frogoudaki, Ryo Inuzuka, Georgios Giannakoulas, Matina Prapa

Int J Cardiol· March 2011

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