John R. Heckenlively

Best Publications

• Retinal degeneration mutants in the mouse.

  B. Chang;N.L. Hawes;R.E. Hurd;M.T. Davisson

  1082
  Citations

• Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

  A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest

  557
  Citations

• Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

  Kirk Mykytyn;Darryl Y. Nishimura;Charles C. Searby;Mythreyi Shastri

  429
  Citations

• Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

  Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok

  408
  Citations

• Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

  Melanie M. Sohocki;Stephen P Daiger;Sara J Bowne;Joseph A. Rodriquez

  388
  Citations

• Nutritional Requirement for Taurine in Patients Receiving Long-Term Parenteral Nutrition

  Harry S. Geggel;Marvin E. Ament;John R. Heckenlively;Deidre A. Martin

  354
  Citations

• A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene

  Melanie M. Sohocki;Lori S. Sullivan;Helen A. Mintz-Hittner;David Birch

  345
  Citations

• Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

  Melanie M. Sohocki;Sara J. Bowne;Lori S. Sullivan;Seth Blackshaw

  344
  Citations

• Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice.

  Bo Chang;Richard S Smith;Norman L Hawes;Michael G Anderson

  321
  Citations

• Autosomal Dominant Sectoral Retinitis Pigmentosa: Two Families With Transversion Mutation in Codon 23 of Rhodopsin

  John R. Heckenlively;Joseph A. Rodriguez;Stephen P. Daiger

  312
  Citations

• Mutations in MKKS cause Bardet-Biedl syndrome.

  Anne M. Slavotinek;Edwin M. Stone;Kirk Mykytyn;John R. Heckenlively

  310
  Citations

• Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

  Sara J. Bowne;Lori S. Sullivan;Susan H. Blanton;Constance L. Cepko

  286
  Citations

• A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

  Debra K. Breuer;Beverly M. Yashar;Elena Filippova;Suja Hiriyanna

  280
  Citations

• CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

  L.M. Astuto;J.M. Bork;M.D. Weston;J.W. Askew

  255
  Citations

• Clinical Findings and Common Symptoms in Retinitis Pigmentosa

  John R. Heckenlively;Seth L. Yoser;Lorraine H. Friedman;Jill J. Oversier

  243
  Citations

• An analysis of allelic variation in the ABCA4 gene

  Andrew R. Webster;Elise Heon;Andrew J. Lotery;Kimberlie Vandenburgh

  241
  Citations

• The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.

  Bo Chang;John R. Heckenlively;Philippa R. Bayley;Nicholas C. Brecha

  238
  Citations

• Myelinated retinal nerve fibers.

  Bradley R. Straatsma;Bradley R. Straatsma;Robert Y. Foos;Robert Y. Foos;John R. Heckenlively;John R. Heckenlively;Gary N. Taylor

  230
  Citations

• Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

  Susan Halloran Blanton;John R. Heckenlively;Anne W. Cottingham;Jackie Friedman

  212
  Citations

• Genetic heterogeneity among blue-cone monochromats.

  J. Nathans;I. H. Maumenee;E. Zrenner;B. Sadowski

  206
  Citations