Reilly, Mary M.

Top Publications

Top Publications Authored or Co-Authored by "Reilly, Mary M."

• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• Transcriptional regulator PRDM12 is essential for human pain perception

  Nature Genetics, Volume 47, No. 7, Year 2015, Citations 136
• Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

  Brain, Volume 135, No. 9, Year 2012, Citations 116
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

  Brain, Volume 133, No. 6, Year 2010, Citations 103
• Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

  Nature Genetics, Volume 52, No. 5, Year 2020, Citations 94