Rosalind J Jefferson

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Amy McTague, Richard Appleton, Shivaram Avula et al. · Brain · 2013 · 165 citations · Full text

Medicine, Neurology, Neuroscience +17

<i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller et al. · Brain · 2015 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 147 citations · Full text

Medicine, Neurology, Neuroscience +11

A method for analysis of back shape in scoliosis

Alan Turner‐Smith, J. Harris, G R Houghton et al. · Journal of Biomechanics · 1988 · 142 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +12