Julia E. Richards

Overview

Best Publications

• Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium

  A B Abou-Samra;H Jüppner;T Force;M W Freeman

  997
  Citations

• Cloning human fetal γ globin and mouse α-type globin DNA: Preparation and screening of shotgun collections

  Frederick R. Blattner;Ann E. Blechl;Katherine Denniston-Thompson;Harvey E. Faber

  406
  Citations

• Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

  Yi Lu;Veronique Vitart;Kathryn P. Burdon;Chiea Chuen Khor

  351
  Citations

• Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

  Janey L. Wiggs;Brian L. Yaspan;Michael A. Hauser;Jae H. Kang

  333
  Citations

• Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

  D. A. Thompson;P. Gyurus;L. L. Fleischer;E. L. Bingham

  306
  Citations

• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  283
  Citations

• Genome-wide association analysis identifies TXNRD2 , ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

  Jessica N.Cooke Bailey;Stephanie J. Loomis;Jae H. Kang;R. Rand Allingham

  281
  Citations

• Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

  Douglas Vollrath;Virna L. Jaramillo-Babb;Mark V. Clough;Iain McIntosh

  265
  Citations

• Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

  Pirro G Hysi;Ching-Yu Cheng;Henriët Springelkamp;Stuart Macgregor

  258
  Citations

• Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

  Satoko Shimizu;Satoko Shimizu;Paul R Lichter;A.Tim Johnson;Zhaohui Zhou

  251
  Citations

• Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease

  Gonçalo R. Abecasis;Beverly M. Yashar;Yu Zhao;Noor M. Ghiasvand;Noor M. Ghiasvand

  242
  Citations

• Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

  Sepideh Zareparsi;Monika Buraczynska;Kari E.H. Branham;Sapna Shah

  225
  Citations

• Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

  Charles M. Krafchak;Hemant Pawar;Sayoko E. Moroi;Alan Sugar

  219
  Citations

• Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

  Paul A. Sieving;Julia E. Richards;Franklin Naarendorp;Eve L. Bingham

  207
  Citations

• Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively

  Debra A. Thompson;Christina L. McHenry;Yun Li;Julia E. Richards

  195
  Citations

• Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium

  Aileen Nicoletti;Deborah J. Wong;Kazuhide Kawase;Lisa H. Gibson

  176
  Citations

• Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure

  Frank W. Rozsa;David M. Reed;Kathleen M. Scott;Hemant Pawar

  175
  Citations

• X-Linked Recessive Atrophic Macular Degeneration from RPGR Mutation

  Radha Ayyagari;F. Yesim Demirci;Jiafan Liu;Eve L. Bingham

  170
  Citations

• Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

  J. E. Richards;P. R. Lichter;M. Boehnke;J. L. A. Uro

  170
  Citations

• Autosomal Dominant Nanophthalmos (NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11

  M.I. Othman;S.A. Sullivan;G.L. Skuta;D.A. Cockrell

  162
  Citations