Contact information
Research groups
Judith Cossins
DPhil
Senior post-doctoral research scientist
After gaining my degree and DPhil from Oxford University I spent seven years in industry before returning to academia. I've been part of David Beeson's group since 2001. My research focuses on congenital myasthenic syndromes, a rare group of inherited disorders which cause muscle fatigue. I have recently been using next generation sequencing to identify mutations in patients, and this has led to the identification of novel genes which cause the disease. I use various cell-based assays to verify the pathogenicity of novel mutations.
Recent publications
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Journal article
Rodríguez Cruz PM. et al, (2020), Hum Mutat, 41, 619 - 631
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Journal article
Beeson D. et al, (2018), Annals of the New York Academy of Sciences, 1413, 163 - 169
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Journal article
Huda S. et al, (2017), Neurology - Neuroimmunology Neuroinflammation, 4, e357 - e357
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Journal article
Gomez AM. et al, (2016), The American Journal of Pathology, 186, 2559 - 2568
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Journal article
Logan CV. et al, (2015), The American Journal of Human Genetics, 97, 878 - 885
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Koneczny I. et al, (2013), PLoS ONE, 8, e80695 - e80695
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Journal article
Webster RG. et al, (2013), Experimental Neurology, 248, 286 - 298
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Finlayson S. et al, (2013), Journal of Neurology, Neurosurgery & Psychiatry, 84, 1119 - 1125
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Journal article
Zoltowska K. et al, (2013), Human Molecular Genetics, 22, 2905 - 2913
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Journal article
Cossins J. et al, (2013), Brain, 136, 944 - 956