Publications by authors named "Oliver Quarrell"

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Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile-Onset Huntington's Disease.
Tracey A Young, Penny A Curtis, Jill Thompson, Aileen K Ho, Helen Santini, Oliver W Quarrell

Mov Disord Clin Pract· November 2025

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Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020.
Oliver W J Quarrell, Ewoma Obaro, Alexander Thompson, Mark Strong, Corinne Mallinson

Clin Dysmorphol· September 2025

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Variation in the reported prevalence of Huntington's disease: a systematic review and guide to interpretation.
Alexander Thompson, Oliver Quarrell, Mark Strong

J Neurol· July 2025

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Clinical Review of Juvenile Huntington's Disease.
Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Oliver Quarrell

J Huntingtons Dis· July 2024

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Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful.
Marjolein M A Ketels, Oliver William Quarrell, Mayke Oosterloo

Mov Disord Clin Pract· October 2023

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Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.
Maria-Christina Kotta, Margherita Torchio, Pauline Bayliss, Marta C Cohen, Oliver Quarrell

J Am Heart Assoc· September 2023

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Prevalence and Incidence of Huntington's Disease.
Mark Strong, Oliver W Quarrell

Mov Disord· August 2023

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Oliver W Quarrell

Genet Med· January 2023

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Predictive genetic testing for Motor neuron disease: time for a guideline?
Alisdair McNeill, Maria-Del-Mar Amador, Hilary Bekker, Angus Clarke, Ashley Crook, Oliver Quarrell

Eur J Hum Genet· June 2022

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Joshua Hodgson, Lidia Ruiz-Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna

Mol Genet Genomic Med· December 2021

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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
Harold S Matthews, Richard L Palmer, Gareth S Baynam, Oliver W Quarrell, Ophir D Klein

Sci Rep· June 2021

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Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.
Oliver W Quarrell, Martin B Delatycki, Angus J Clarke, Nayana Lahiri, David Craufurd

J Huntingtons Dis· July 2020

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Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease.
Mike C Horton, Peggy Nopoulos, Martha Nance, G Bernhard Landwehrmyer, Roger A Barker, Oliver Quarrell

J Huntingtons Dis· April 2020

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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Carsten Rautengarten, Oliver W Quarrell, Karen Stals, Richard C Caswell, Elisa De Franco

Hum Mol Genet· November 2019

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A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.
Felicity Wadrup, Simon Holden, Rhona MacLeod, Zosia Miedzybrodzka, Andrea H Németh, Oliver Quarrell

Eur J Hum Genet· August 2019

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27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Raul E Piña-Aguilar, Sheila A Simpson, Abdulrahman Alshatti, Angus Clarke, David Craufurd, Oliver W Quarrell

Genet Med· July 2019

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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?
Oliver W J Quarrell, Martha A Nance, Peg Nopoulos, Ralf Reilmann, Mayke Oosterloo

Mov Disord· April 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Oliver W Quarrell

Lancet· February 2019

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Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Gordon I Hale, Marta C Cohen, Oliver W Quarrell, John A McGrath, Andrew G Messenger

Pediatr Dev Pathol· December 2018

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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Oliver W Quarrell, Angus J Clarke, Cecilia Compton, Christine E M de Die-Smulders, Alan Fryer

Am J Med Genet B Neuropsychiatr Genet· January 2018

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A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.
Amelia D Moser, Eric Epping, Patricia Espe-Pfeifer, Erin Martin, Leah Zhorne, Oliver Quarrell

Neurodegener Dis Manag· October 2017

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Oliver W Quarrell

Eur J Hum Genet· October 2016

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Oliver W Quarrell

Eur J Hum Genet· October 2016

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The global prevalence of Huntington's disease: a systematic review and discussion.
Sheharyar Sajjad Baig, Mark Strong, Oliver Wj Quarrell

Neurodegener Dis Manag· August 2016

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Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.
Sarah Salway, Parveen Ali, Giles Ratcliffe, Elizabeth Such, Nasaim Khan, Oliver Quarrell

J Community Genet· July 2016

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