Charles Searby

Overview

Best Publications

• Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

  Neena B. Haider;Samuel G. Jacobson;Artur V. Cideciyan;Ruth Swiderski

  527
  Citations

• The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

  Darryl Y. Nishimura;Ruth E. Swiderski;Wallace L. M. Alward;Charles C. Searby

  527
  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

• Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

  Darryl Y. Nishimura;Melissa Fath;Robert F. Mullins;Charles Searby

  407
  Citations

• An autosomal genomic screen for autism. Collaborative linkage study of autism.

  Barrett S;Beck Jc;Bernier R;Bisson E

  372
  Citations

• An autosomal genomic screen for autism

  Stacey Barrett;John C. Beck;Raphael Bernier;Erica Bisson

  361
  Citations

• Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

  Nasreen Jacobson;Michael Andrews;Allan R. Shepard;Darryl Nishimura

  341
  Citations

• A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.

  Alexander V. Loktev;Qihong Zhang;John S. Beck;Charles C. Searby

  325
  Citations

• Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

  Kirk Mykytyn;Terry Braun;Terry Braun;Rivka Carmi;Neena B. Haider

  311
  Citations

• Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)

  Darryl Y. Nishimura;Charles C. Searby;Rivka Carmi;Khalil Elbedour

  304
  Citations

• A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

  Roger E. Davis;Ruth E. Swiderski;Kamal Rahmouni;Darryl Y. Nishimura

  298
  Citations

• Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

  Gulab S. Zode;Markus H. Kuehn;Darryl Y. Nishimura;Charles C. Searby

  292
  Citations

• Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

  Darryl Y. Nishimura;Ruth E. Swiderski;Charles C. Searby;Erik M. Berg

  290
  Citations

• A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

  Darryl Y. Nishimura;Charles C. Searby;Wallace L. Alward;David Walton

  290
  Citations

• Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

  Annie P. Chiang;Darryl Nishimura;Charles Searby;Khalil Elbedour

  255
  Citations

• ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

  Melissa C. Humbert;Katie Weihbrecht;Charles C. Searby;Yalan Li

  241
  Citations

• Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

  Heather M. McLaughlin;Reiko Sakaguchi;Cuiping Liu;Takao Igarashi

  228
  Citations

• A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

  Seongjin Seo;Qihong Zhang;Qihong Zhang;Kevin Bugge;Kevin Bugge;David K. Breslow

  228
  Citations

• Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome

  Melissa A. Fath;Robert F. Mullins;Charles Searby;Darryl Y. Nishimura

  214
  Citations

• CRISPR-Cas9–based treatment of myocilin-associated glaucoma

  Ankur Jain;Gulab Zode;Ramesh B. Kasetti;Fei A. Ran

  187
  Citations