Publications by authors named "Christian DeGoede"

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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Christian G E L DeGoede

Genome Med· April 2025

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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Stefan Groeneweg, Ferdy S van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Christian DeGoede

Nat Commun· March 2025

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Treatment of Nocturnal Enuresis Using Miniaturised Smart Mechatronics With Artificial Intelligence.
Kaya Kuru, Darren Ansell, Dave Hughes, Benjamin Jon Watkinson, Fabrizio Gaudenzi, Christian Degoede

IEEE J Transl Eng Health Med· December 2023

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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Christian G E L DeGoede

medRxiv· September 2023

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Stefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, Alberto Alcantud, Gautem P Ambegaonkar, Christian DeGoede

Lancet Diabetes Endocrinol· July 2020

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Patient Engagement in Medical Device Design: Refining the Essential Attributes of a Wearable, Pre-Void, Ultrasound Alarm for Nocturnal Enuresis.
Noreen Caswell, Kaya Kuru, Darren Ansell, Martin J Jones, Benjamin Jon Watkinson, Christian DeGoede

Pharmaceut Med· February 2020

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Frequency of reported pain in adult males with muscular dystrophy.
Matthew F Jacques, Rachel C Stockley, Emma I Bostock, Jonathon Smith, Christian G DeGoede

PLoS One· December 2019

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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Johann Böhm, Monica Bulla, Jill E Urquhart, Edoardo Malfatti, Simon G Williams, Christian G DeGoede

Hum Mutat· April 2017

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Pain experience, expression and coping in boys and young men with Duchenne Muscular Dystrophy - A pilot study using mixed methods.
Anne Hunt, Bernie Carter, Janice Abbott, Arija Parker, Stefan Spinty, Christian deGoede

Eur J Paediatr Neurol· July 2016

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