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Genetics

D-Index
82
Citations
21362
World Ranking
1483
National Ranking
693

Medicine

D-Index
88
Citations
27440
World Ranking
13193
National Ranking
6724

Overview

John R. Heckenlively is affiliated with the University of Michigan-Ann Arbor in the United States. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a focus on ophthalmology and molecular biology subfields.

The main areas of study include retinal diseases and treatments, retinal development and disorders, retinal and macular surgery, glaucoma and retinal disorders, retinal imaging and analysis, genetic associations and epidemiology, as well as lipid metabolism and disorders.

Their recent publications illustrate a concentration on inherited retinal diseases and age-related macular degeneration. Notable papers include:

  • Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium, 2020, Translational Vision Science & Technology
  • Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration, 2021, JAMA Ophthalmology
  • A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration, 2020, Scientific Reports
  • Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis, 2021, PLoS Genetics
  • Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia, 2022, Human Mutation

Their collaborative work involves frequent coauthors such as Isabelle Audo, Kari Branham, Paul A. Sieving, David G. Birch, and Jacque L. Duncan.

Heckenlively has contributed to several publications in key venues that include:

  • Translational Vision Science & Technology
  • JAMA Ophthalmology
  • Scientific Reports
  • PLoS Genetics
  • Human Mutation

Best Publications

  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann

  • Seven new loci associated with age-related macular degeneration

    Lars G. Fritsche;Lars G. Fritsche;Wei Chen;Wei Chen;Matthew Schu;Brian L. Yaspan

  • Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice.

    Simon W M John;Richard S. Smith;Olga V. Savinova;Norman L. Hawes

  • Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration

    Wei Chen;Dwight Stambolian;Albert O. Edwards;Kari E. Branham

  • Effective gene therapy with nonintegrating lentiviral vectors

    Rafael J Yáñez-Muñoz;Rafael J Yáñez-Muñoz;Rafael J Yáñez-Muñoz;Kamaljit S Balaggan;Angus MacNeil;Steven J Howe

  • 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

  • Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

    Ching Hwa Sung;Carol M. Davenport;Jill C. Hennessey;Irene H. Maumenee

  • Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene.

    B. Chang;N.L. Hawes;M.T. Pardue;M.T. Pardue;A.M. German

  • Principles and practice of clinical electrophysiology of vision

    John R. Heckenlively;Geoffrey B. Arden;Steven Nusinowitz;Graham E. Holder

  • 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

  • In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

    Bo Chang;Hemant Khanna;Norman Hawes;David Jimeno

  • 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

  • CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

    Adrienne K. Mehalow;Shuhei Kameya;Richard S. Smith;Norman L. Hawes

  • Rescue of retinal degeneration by intravitreally injected adult bone marrow–derived lineage-negative hematopoietic stem cells

    Atsushi Otani;Michael Ian Dorrell;Karen Kinder;Stacey K. Moreno

  • Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

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

  • 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

  • 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

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

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

  • Mutations in MKKS cause Bardet-Biedl syndrome.

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

  • E2-2 Protein and Fuchs's Corneal Dystrophy

    Keith H. Baratz;Nirubol Tosakulwong;Euijung Ryu;William L. Brown

Frequent Co-Authors

Bo Chang
Bo Chang University of California, Los Angeles
David G. Birch
David G. Birch The University of Texas Southwestern Medical Center
Anand Swaroop
Anand Swaroop National Institutes of Health
Stephen P. Daiger
Stephen P. Daiger The University of Texas Health Science Center at Houston
Muriel T. Davisson
Muriel T. Davisson University of California, Los Angeles
Paul A. Sieving
Paul A. Sieving University of California, Davis
Samuel G. Jacobson
Samuel G. Jacobson University of Pennsylvania
Richard G. Weleber
Richard G. Weleber Oregon Health & Science University
Bernd Wissinger
Bernd Wissinger University of Tübingen
Susanne Kohl
Susanne Kohl University of Tübingen

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