M. Buddles

Most-cited papers

1. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

   A. Richards, M. Buddles, R. Donné, B. Kaplan +5 more

   2001American Journal of Human Genetics342 citations Open access

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2. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

   C. C. García, H. Blair, M. Seager, A. Coulthard +4 more

   2004Journal of Medical Genetics211 citations Open access

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3. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

   C. Fratter, G. Gorman, Joanna D. Stewart, M. Buddles +19 more

   2010Neurology92 citations Open access

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4. Control of initiation of DNA replication in plants

   M. Buddles, M. J. Hamer, J. Rosamond, C. M. Bray

   19939 citations

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5. Double Trouble? CMC with a Mutation in both AIRE and STAT1

   Huda Al Dhanhani, T. Alshehri, D. Lilić, M. Buddles +3 more

   2018Journal of Clinical Immunology4 citations

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6. A family with X-linked epilepsy mapping to Xp11-Xq13

   M. Buddles, J. Goodship

   19993 citations

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7. Deficiency of synapsin I, a synaptic vesicle protein, causes epilepsy

   J. Goodship, C. C. García, H. Blair, M. Seager +4 more

   20031 citations

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8. Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients

   C. Fratter, G. Gorman, Jane Stewart, M. Buddles +16 more

   20090 citations

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