John J. Wasmuth

Overview

Best Publications

• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

  Marcy E. MacDonald;Christine M. Ambrose;Mabel P. Duyao;Richard H. Myers

  7760
  Citations

• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

  M Shah;N Datson;L Srinidhi;VP Stanton

  4892
  Citations

• Identification and characterization of the familial adenomatous polyposis coli gene

  Joanna Groden;Andrew Thliveris;Andrew Thliveris;Wade Samowitz;Mary Carlson

  3550
  Citations

• Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

  Rita Shiang;Leslie M. Thompson;Ya-Zhen Zhu;Deanna M. Church

  1568
  Citations

• Identification of deletion mutations and three new genes at the familial polyposis locus

  Geoff Joslyn;Geoff Joslyn;Mary Carlson;Andrew Thliveris;Andrew Thliveris;Hans Albertsen

  924
  Citations

• The gene for familial polyposis coli maps to the long arm of chromosome 5.

  M. Leppert;M. Dobbs;P. Scambler;P. O'Connell

  834
  Citations

• Localization of a susceptibility locus for schizophrenia on chromosome 5

  Robin Sherrington;Jon Brynjolfsson;Hannes Petursson;Mark Potter

  833
  Citations

• Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

  Patricia L. Tavormina;Rita Shiang;Leslie M. Thompson;Ya-Zhen Zhu

  695
  Citations

• Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

  Rita Shiang;Stephen G. Ryan;Ya-Zhen Zhu;Angelika F. Hahn

  652
  Citations

• Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

  Jill Dixon;Sara J. Edwards;Amanda J. Gladwin

  497
  Citations

• Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat

  Christine M. Ambrose;Mabel P. Duyao;Glenn Barnes;Gillian P. Bates

  385
  Citations

• The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases.

  S Brill;S Li;C W Lyman;D M Church

  353
  Citations

• Expression and chromosomal localization of a lymphocyte K+ channel gene.

  S Grissmer;B Dethlefs;J J Wasmuth;A L Goldin

  250
  Citations

• FLT4, a novel class III receptor tyrosine kinase in chromosome 5q33-qter.

  Olga Aprelikova;Katri Pajusola;Juha Partanen;Elina Armstrong

  235
  Citations

• The Huntington's disease candidate region exhibits many different haplotypes.

  Marcy E. MacDonald;Andrea Novelletto;Carol Lin;Dan Tagle

  216
  Citations

• Reduced Penetrance of the Huntington's Disease Mutation

  Sandra M. McNeil;Andrea Novelletto;Jayalakshmi Srinidhi;Glenn Barnes

  213
  Citations

• A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

  Stephen G. Ryan;Marion S. Buckwalter;Joseph W. Lynch;Cheryl A. Handford

  211
  Citations

• The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease

  Winokur St;Bengtsson U;Feddersen J;Mathews Kd

  207
  Citations

• Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

  Joan Overhauser;Xlaogu Huang;Meryl Gersh;Wesley Wilson

  207
  Citations

• A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

  Patricia L. Tavormina;Gary A. Bellus;Gary A. Bellus;Melanie K. Webster;Michael J. Bamshad

  198
  Citations