David E. Barton

Best Publications

• Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy

  M Mangin;A C Webb;B E Dreyer;J T Posillico

  486
  Citations

• Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin.

  A. Richmond;E. Balentien;H. G. Thomas;G. Flaggs

  411
  Citations

• Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

  Anja T. Rovio;David R. Marchington;Susanne Donat;Hans Christian Schuppe

  224
  Citations

• A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.

  Byoung S. Kwon;Chaya Chintamaneni;Christine A. Kozak;Neal G. Copeland

  217
  Citations

• Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

  David E. Barton;Byoung S. Kwon;Uta Francke

  216
  Citations

• The copy number variation landscape of congenital anomalies of the kidney and urinary tract

  Miguel Verbitsky;Rik Westland;Alejandra Perez;Krzysztof Kiryluk

  199
  Citations

• Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence

  David C. Rubinsztein;William Amos;Jayne Leggo;Sandy Goodburn

  180
  Citations

• The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding

  Richard A. Spritz;Kathleen Strunk;Carol S. Surowy;Sallie O. Hoch

  164
  Citations

• Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.

  David C. Rubinsztein;David E. Barton;B.C.Clare Davison;Malcolm A. Ferguson-Smith

  162
  Citations

• The detection of large deletions or duplications in genomic DNA.

  J.A.L. Armour;D.E. Barton;D.J. Cockburn;G.R. Taylor

  162
  Citations

• Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family.

  Barton De;Foellmer Be;Du J;Tamm J

  146
  Citations

• Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

  Mireille Claustres;Viktor Kožich;Els Dequeker;Brain Fowler

  146
  Citations

• Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

  Esther Lopez-Rivera;Yangfan P Liu;Miguel Verbitsky;Blair R Anderson

  144
  Citations

• The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

  S. Mazoyer;J. Leary;J. Kirk;E. Fleischmann

  143
  Citations

• Chromosome mapping of the growth hormone receptor gene in man and mouse.

  D. E. Barton;B. E. Foellmer;W. I. Wood;U. Francke

  134
  Citations

• Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

  Richard M. Irving;David A. Moffat;David G. Hardy;David E. Barton

  131
  Citations

• Mapping of genes for inhibin subunits α, βA, and βB on human and mouse chromosomes and studies of jsd mice

  D.E. Barton;T.L. Yang-Feng;A.J. Mason;P.H. Seeburg

  128
  Citations

• Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

  R E Slatter;M Elliott;K Welham;M Carrera

  115
  Citations

• Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

  M. P. Snead;S. J. Payne;D. E. Barton;J. R. W. Yates

  111
  Citations

• Chromosomal mapping of the gene for the type II insulin-like growth factor receptor/cation-independent mannose 6-phosphate receptor in man and mouse.

  Geneviève Laureys;David E. Barton;Axel Ullrich;Uta Francke

  102
  Citations