MarkDavisMD

PubMed

• STRetch: detecting and discovering pathogenic short tandem repeat expansions.
  Dashnow, H.,Lek, M.,Phipson, B.,Halman, A.,Sadedin, S.,Lonsdale, A.,Davis, M.,Lamont, P.,Clayton, J. S.,Laing, N. G.,MacArthur, D. G.,Oshlack, A.> ;Genome Biol.. 2018 Aug 22
• Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
  Nilipour, Y.,Nafissi, S.,Tjust, A. E.,Ravenscroft, G.,Hossein Nejad Nedai, H.,Taylor, R. L.,Varasteh, V.,Pedrosa Domellöf, F.,Zangi, M.,Tonekaboni, S. H.,Olivé, M.,Kii...> ;Eur. J. Neurol.. 2018 Mar 03
• Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
  Coote, D. J.,Davis, M. R.,Cabrera, M.,Needham, M.,Laing, N. G.,Nowak, K. J.> ;Eur. J. Hum. Genet.. 2018 Apr 27
• Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
  Steven S Scherer, Michael E Shy, Mark R Davis, Shawna M Feely, Stephan Zuchner> ;Cell Press. 2018 Mar 03
• Clinical Utility Gene Card for: Becker muscular dystrophy.
  Coote, D.,Davis, M. R.,Cabrera, M.,Needham, M.,Laing, N. G.,Nowak, K. J.> ;Eur. J. Hum. Genet.. 2018 Feb 23
• Clinical utility gene card for McArdle disease.
  Taylor, R. L.,Davis, M.,Turner, E.,Brull, A.,Pinos, T.,Cabrera, M.,Nowak, K. J.> ;Eur. J. Hum. Genet.. 2018 Jan 27
• CUGC for Duchenne muscular dystrophy (DMD).
  Coote, D. J.,Davis, M. R.,Cabrera, M.,Needham, M.,Laing, N. G.,Nowak, K. J.> ;Eur. J. Hum. Genet.. 2018 Jan 14
• Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
  Todd, E. J.,Yau, K. S.,Ong, R.,Slee, J.,McGillivray, G.,Barnett, C. P.,Haliloglu, G.,Talim, B.,Akcoren, Z.,Kariminejad, A.,Cairns, A.,Clarke, N. F.,Freckmann, M. L.,Ro...> ;Orphanet J Rare Dis. 2015 Nov 19
• Expanding the phenotype of GMPPB mutations.
  Cabrera-Serrano, M.,Ghaoui, R.,Ravenscroft, G.,Johnsen, R. D.,Davis, M. R.,Corbett, A.,Reddel, S.,Sue, C. M.,Liang, C.,Waddell, L. B.,Kaur, S.,Lek, M.,North, K. N.,Mac...> ;Brain. 2015 Feb 15
• Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
  Gupta, V. A.,Ravenscroft, G.,Shaheen, R.,Todd, E. J.,Swanson, L. C.,Shiina, M.,Ogata, K.,Hsu, C.,Clarke, N. F.,Darras, B. T.,Farrar, M. A.,Hashem, A.,Manton, N. D.,Mun...> ;Am. J. Hum. Genet.. 2013 Nov 26
• Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia.
  Gaignard, P.,Menezes, M.,Schiff, M.,Bayot, A.,Rak, M.,Ogier de Baulny, H.,Su, C. H.,Gilleron, M.,Lombes, A.,Abida, H.,Tzagoloff, A.,Riley, L.,Cooper, S. T.,Mina, K.,Si...> ;Am. J. Hum. Genet.. 2013 Jul 30
• Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.
  Laing, N. G., Davis, M. R., Bayley, K., Fletcher, S., Wilton, S. D.> ;Clin Biochem Rev. 2011 Aug
• Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
  Sambuughin, N., Yau, K. S., Olivé, M., Duff, R. M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K. J., Ravenscroft, G., Mastaglia, F. L., North,...> ;Am J Hum Genet. 2010 Dec 10
• A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
  Kumar, K.R., Ng, K., Vandebona, H., Davis, M.R., Sue, C.M.> ;Muscle Nerve. 2010 Mar
• Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.
  Madden, H.R., Fletcher, S., Davis, M.R., Wilton, S.D.> ;Hum Mutat. 2009 Jan
• Effectiveness of posthumous molecular diagnosis from a kept baby tooth.
  Leonard, H., Davis, M. R., Turbett, G. R., Laing, N. G., Bower, C., Ravine, D.> ;Lancet. 2005 Nov 01
• Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
  Jungbluth, H., Davis, M. R., Müller, C., Counsell, S., Allsop, J., Chattopadhyay, A., Messina, S., Mercuri, E., Laing, N. G., Sewry, C. A., Bydder, G., Muntoni, F.> ;Neuromuscul Disord. 2004 Dec
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