Katherine W. Klinger

Best Publications

• Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells.

  Devra P. Rich;Matthew P. Anderson;Richard J. Gregory;Seng H. Cheng

  813
  Citations

• Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.

  J. Carpten;N. Nupponen;S. Isaacs;R. Sood

  671
  Citations

• PCR Quantitation of Fetal Cells in Maternal Blood in Normal and Aneuploid Pregnancies

  Diana W. Bianchi;John M. Williams;Lisa M. Sullivan;Frederick W. Hanson

  541
  Citations

• Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

  D. W. Bianchi;J. L. Simpson;L. G. Jackson;S. Elias

  514
  Citations

• Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

  Michael S Watson;Garry R Cutting;Robert J Desnick;Deborah A. Driscoll

  506
  Citations

• Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

  Wayne W. Grody;Garry R. Cutting;Katherine W. Klinger;Carolyn Sue Richards

  489
  Citations

• Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

  Brenda Richards;Joel Skoletsky;Anthony P. Shuber;Rosemary Balfour

  472
  Citations

• Expression and characterization of the cystic fibrosis transmembrane conductance regulator.

  Richard J. Gregory;Seng H. Cheng;Devra P. Rich;John Marshall

  454
  Citations

• Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)

  Klinger K;Landes G;Shook D;Harvey R

  408
  Citations

• Polycystin 1 is required for the structural integrity of blood vessels.

  Keetae Kim;Iain Drummond;Oxana Ibraghimov-Beskrovnaya;Katherine Klinger

  375
  Citations

• CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy.

  Marco A. Passini;Jie Bu;Eric M. Roskelley;Amy M. Richards

  353
  Citations

• Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry

  J.O. Price;S Elias;S.S. Wachtel;K Klinger

  337
  Citations

• Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction.

  Glenn T. Horn;Brenda Richards;Katherine W. Klinger

  328
  Citations

• Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens

  B E Ward;S L Gersen;M P Carelli;N M McGuire

  327
  Citations

• Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine

  Nikolay O. Bukanov;Laurie A. Smith;Katherine W. Klinger;Steven R. Ledbetter

  315
  Citations

• Alterations in vascular gene expression in invasive breast carcinoma

  Belinda S. Parker;Pedram Argani;Brian P. Cook;Han Liangfeng

  278
  Citations

• Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein

  O Ibraghimov-Beskrovnaya;W R Dackowski;L Foggensteiner;N Coleman

  259
  Citations

• Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

  Oxana Ibraghimov-Beskrovnaya;Nikolay O. Bukanov;Lincoln C. Donohue;William R. Dackowski

  249
  Citations

• Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

  Terry J Watnick;Vicente E Torres;Michael A Gandolph;Feng Qian

  240
  Citations

• Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

  Jacqueline Glascock;Jacinda Sampson;Amanda Haidet-Phillips;Anne Connolly

  228
  Citations