Letter in response to Salari M, et al. Epidemiology and clinical features of Huntington's disease in MENASA region: A systematic review and meta-analysis
Oliver Quarrell, Alexander Thompson, Mark Strong
0 citationsJournal of Huntington s Disease
Oliver Quarrell
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79Publications signalées
5396Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Neurodegenerative DiseasesMitochondrial Function and PathologyGenomic variations and chromosomal abnormalitiesNeurological disorders and treatmentsGenetics and Neurodevelopmental Disorders
Publications récentes
Observed total and live birth prevalence of Wolf–Hirschhorn syndrome in England 2015–2020
Oliver Quarrell, Ewoma Obaro, Alexander Thompson, Mark Strong et autres
0 citationsClinical Dysmorphology
Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful
Marjolein M.A. Ketels, Oliver Quarrell, Mayke Oosterloo
1 citationMovement Disorders Clinical Practice
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 et autres
11 citationsGenetics in Medicine
Predictive genetic testing for Motor neuron disease: time for a guideline?
Alisdair McNeill, Maria del Mar Amador, Hilary Bekker, Angus Clarke et autres
12 citationsEuropean Journal of Human Genetics
Genetic counselling: a new diagnosis in the family
0 citations
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
Carsten Rautengarten, Oliver Quarrell, Karen Stals, Richard Caswell et autres
14 citationsHuman Molecular Genetics
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli et autres
67 citationsThe American Journal of Human Genetics
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck et autres
727 citationsThe Lancet
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
Raúl E. Piña-Aguilar, Sheila A Simpson, Abdulrahman Alshatti, Angus Clarke et autres
19 citationsGenetics in Medicine
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann et autres
125 citationsNature Communications
Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
Paul McNulty, Richard Pilcher, Renata Necuiniate, Alis Hughes et autres
37 citationsJournal of Huntington s Disease
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