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Current Opinion in Neurology|September 3, 2013
Recent advances in nemaline myopathyNorma B Romero, Sarah A Sandaradura, Nigel F ClarkeNPJ Genomic Medicine|January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national levelStephanie Best, Helen Brown, Sebastian Lunke, et al.NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.Pageof 3