In silico predictive tools versus invivo functional characterisation of CLCN1 genetic variants in muscle channelopathies
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Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
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Cholestasis Due to USP53 Deficiency
Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, Thompson, Richard J.
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2021)
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Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
Vivekanandam, Vinojini, Jaibaji, Rawan, Sud, Richa, Ellmers, Rebecca, Skorupinska, Iwona, Germaine, Louise, James, Natalie, Holmes, Sarah, Mannikko, Roope, Jayaseelan, Dipa, Hanna, Michael G
Published in Neuromuscular disorders : NMD (01.03.2023)
Published in Neuromuscular disorders : NMD (01.03.2023)
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.
Published in Nature communications (07.11.2022)
Published in Nature communications (07.11.2022)
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