Stephen P. Daiger

Research.com Recognitions

• 2014 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Best Publications

• Genes and mutations causing retinitis pigmentosa

  Stephen P Daiger;Lori S Sullivan;Sara J Bowne

  660
  Citations

• Perspective on Genes and Mutations Causing Retinitis Pigmentosa

  Stephen P. Daiger;Sara J. Bowne;Lori S. Sullivan

  623
  Citations

• Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D

  Stephen P. Daiger;Mel S. Schanfield;L. L. Cavalli-Sforza

  501
  Citations

• Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications.

  Ranajit Chakraborty;M. De Andrade;S. P. Daiger;Bruce Budowle

  443
  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

• 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

• Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

  Lori S. Sullivan;Sara J. Bowne;David G. Birch;Dianna Hughbanks-Wheaton

  322
  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

• Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

  Peter McWilliam;G.Jane Farrar;Paul Kenna;Daniel G. Bradley

  306
  Citations

• Localization of two genes for Usher syndrome type I to chromosome 11.

  Richard J.H. Smith;Elizabeth C. Lee;William J. Kimberling;Stephen P. Daiger

  291
  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

• Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

  Feng Wang;Hui Wang;Han Fang Tuan;Duy H. Nguyen

  247
  Citations

• Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

  Sara J. Bowne;Lori S. Sullivan;Sarah E. Mortimer;Lizbeth Hedstrom

  213
  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

• Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.

  Jacque L. Duncan;Eric A. Pierce;Amy M. Laster;Stephen P. Daiger

  205
  Citations

• Prevalence of AIPL1 mutations in inherited retinal degenerative disease

  Melanie M. Sohocki;Isabelle Perrault;Bart P. Leroy;Bart P. Leroy;Annette M. Payne

  204
  Citations

• Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

  Chen Zhao;Chen Zhao;Deepti L. Bellur;Shasha Lu;Shasha Lu;Feng Zhao

  204
  Citations

• Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

  Lori S. Sullivan;John R. Heckenlively;Sara J. Bowne;Jian Zuo

  200
  Citations

• Mutations in a novel photoreceptor-pineal gene on 17P cause leber congenital amaurosis (LCA4)

  Melanie M. Sohocki;Stephen P. Daiger

  9
  Citations