Publications by authors named "Christian de Goede"

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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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Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes.
Evangeline Wassmer, Charly Billaud, Michael Absoud, Omar Abdel-Mannan, Christina Benetou, Christian De Goede

Eur J Paediatr Neurol· September 2024

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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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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Christian G E L De Goede

Brain Commun· August 2023

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Text integration processes in children with Childhood Epilepsy with Centro-Temporal Spikes.
Gillian Francey, Nicola Currie, Adina Lew, Christian De Goede, Helen Basu

Epilepsy Res· May 2023

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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Vasantha Lakshmi Gowda, Miguel Fernandez, Manish Prasad, Anne-Marie Childs, Imelda Hughes, Christian Gaudentius Engelbert Lourens De Goede

Arch Dis Child· February 2022

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Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy.
Matthew F Jacques, Gladys L Onambele-Pearson, Bryn Edwards, Christian G De Goede, Christopher I Morse

PLoS One· January 2022

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Joanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad, Christian De Goede

Mov Disord· August 2020

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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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Intelligent autonomous treatment of bedwetting using non-invasive wearable advanced mechatronics systems and MEMS sensors : Intelligent autonomous bladder monitoring to treat NE.
Kaya Kuru, Darren Ansell, Martin Jones, Benjamin Jon Watkinson, Noreen Caswell, Christian De Goede

Med Biol Eng Comput· May 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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Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Yi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, Alasdair Blain, Enrico Bugiardini, Christian de Goede

Ann Neurol· August 2019

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Pedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Christian De Goede

Brain· June 2019

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Feasibility study of intelligent autonomous determination of the bladder voiding need to treat bedwetting using ultrasound and smartphone ML techniques : Intelligent autonomous treatment of bedwetting.
Kaya Kuru, Darren Ansell, Martin Jones, Christian De Goede, Peter Leather

Med Biol Eng Comput· May 2019

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Investigation of developmental delay.
Christian de Goede, Martin Myers, Jane Oakey

Arch Dis Child· May 2018

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Reading comprehension difficulties in children with rolandic epilepsy.
Nicola K Currie, Adina R Lew, Tom M Palmer, Helen Basu, Christian De Goede

Dev Med Child Neurol· March 2018

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How to use tests for disorders of copper metabolism.
Jane Armer, Christian De Goede

Arch Dis Child Educ Pract Ed· December 2017

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Christian G L De Goede

Neuropediatrics· June 2017

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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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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Christian De Goede

Am J Hum Genet· March 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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Mutation of TBCK causes a rare recessive developmental disorder.
Rita J Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras

Neurol Genet· June 2016

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Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
Christian de Goede, Wyatt W Yue, Guanhua Yan, Shyamala Ariyaratnam, Kate E Chandler

Eur J Paediatr Neurol· March 2016

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