James M Polke (James Polke)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 9

Top Topics

Cross Sectional

Circulating Tumor

Top Venues

European journal of human genetics : EJHG

Brain : a journal of neurology

Journal of neurology, neurosurgery, and psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andreas Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain : a journal of neurology (2024)
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andreas Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain : a journal of neurology 147 (9) (2024)
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Adriana P Rebelo, Michael E Shy, Stephen W Scherer, Mary M Reilly, null null
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a journal of neurology (2023)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG (2022)
Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. Journal of neurology, neurosurgery, and psychiatry (2022)