Marcy C. Speer

Overview

Best Publications

• Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.

  Thomas H. Milhorat;Mike W. Chou;Mike W. Chou;Elizabeth M. Trinidad;Elizabeth M. Trinidad;Roger W. Kula;Roger W. Kula

  1576
  Citations

• Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

  Kenneth E. White;Wayne E. Evans;Jeffery L.H. O'Riordan;Marcy C. Speer

  1486
  Citations

• Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

  D.W. Johnson;J.N. Berg;J.N. Berg;M.A. Baldwin;C.J. Gallione

  1330
  Citations

• A common MUC5B promoter polymorphism and pulmonary fibrosis

  Max A. Seibold;Anastasia L. Wise;Marcy C. Speer;Mark P. Steele

  1214
  Citations

• Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

  Alan Q. Thomas;Kirk Lane;John Phillips;Melissa Prince

  782
  Citations

• Standardizing global gene expression analysis between laboratories and across platforms

  Theodore Bammler;Richard P. Beyer;Sanchita Bhattacharya;Gary A. Boorman

  600
  Citations

• Clinical and pathologic features of familial interstitial pneumonia.

  Mark P. Steele;Marcy C. Speer;James E. Loyd;Kevin K. Brown

  493
  Citations

• Human neural tube defects: Developmental biology, epidemiology, and genetics

  Eric R. Detrait;Timothy M. George;Heather C. Etchevers;John R. Gilbert

  473
  Citations

• Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

  Stephan Züchner;Stephan Züchner;Maher Noureddine;Marina Kennerson;Kristien Verhoeven

  413
  Citations

• Myotilin is mutated in limb girdle muscular dystrophy 1A

  Michael A. Hauser;Stephen K. Horrigan;Paula Salmikangas;Udana M. Torian

  363
  Citations

• Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

  G. J. Jöbsis;H. Keizers;J. P. Vreijling;M. De Visser

  334
  Citations

• Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.

  Marcy C. Speer;David S. Enterline;Lorraine Mehltretter;Preston Hammock

  286
  Citations

• Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

  Afif Hentati;Khemissa Bejaoui;Margaret A. Pericak-Vance;Faycal Hentati

  280
  Citations

• Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

  J. M. Vance;G. A. Nicholson;L. H. Yamaoka;J. Stajich

  257
  Citations

• Duchenne muscular dystrophy: high frequency of deletions

  R. J. Bartlett;M. A. Pericak-Vance;J. Koh;L. H. Yamaoka

  250
  Citations

• Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

  Eric J. Horstick;Jeremy W. Linsley;James J. Dowling;Michael A. Hauser

  247
  Citations

• Genetic linkage studies in Alzheimer's disease families

  M. A. Pericak-Vance;L. H. Yamaoka;C. S. Haynes;M. C. Speer

  239
  Citations

• Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23

  David N. Messina;Marcy C. Speer;Margaret A. Pericak-Vance;Elizabeth M. McNally

  227
  Citations

• Genetic mapping of a novel familial form of infantile hemangioma

  Jeffrey W. Walter;Francine Blei;Jennifer L. Anderson;Seth J. Orlow

  223
  Citations

• Gene expression profiling of familial and sporadic interstitial pneumonia.

  Ivana V. Yang;Lauranell H. Burch;Mark P. Steele;Jordan D. Savov

  202
  Citations