D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 57 Citations 10,782 215 World Ranking 2621 National Ranking 1146

Research.com Recognitions

Awards & Achievements

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

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His scientific interests lie mostly in Genetics, Retinitis pigmentosa, Gene, Mutation and Locus. In most of his Genetics studies, his work intersects topics such as Molecular biology. His work is dedicated to discovering how Molecular biology, Rhodopsin are connected with Locus heterogeneity and other disciplines.

His study in Retinitis pigmentosa is interdisciplinary in nature, drawing from both Retinal degeneration, Genetic testing, Proband and Gene mapping. His research in Retinal degeneration intersects with topics in Peripherin and Phenotype. His Locus research is multidisciplinary, incorporating elements of genomic DNA, Restriction Site Polymorphism, Disease and Candidate gene.

His most cited work include:

  • Perspective on Genes and Mutations Causing Retinitis Pigmentosa (348 citations)
  • Genes and mutations causing retinitis pigmentosa (312 citations)
  • Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications. (275 citations)

What are the main themes of his work throughout his whole career to date?

Stephen P. Daiger mainly focuses on Genetics, Retinitis pigmentosa, Gene, Retinal degeneration and Genetic linkage. His Genetics study often links to related topics such as Molecular biology. His Retinitis pigmentosa study combines topics in areas such as Exome sequencing, Genetic heterogeneity, Haplotype and Candidate gene.

Stephen P. Daiger regularly links together related areas like Disease in his Gene studies. His Retinal degeneration study incorporates themes from Macular degeneration and Gene isoform. His studies deal with areas such as Mutation, Genetic marker, Chromosome 4, Chromosome and Linkage as well as Genetic linkage.

He most often published in these fields:

  • Genetics (82.53%)
  • Retinitis pigmentosa (41.05%)
  • Gene (30.13%)

What were the highlights of his more recent work (between 2014-2020)?

  • Genetics (82.53%)
  • Retinitis pigmentosa (41.05%)
  • Disease (8.73%)

In recent papers he was focusing on the following fields of study:

Stephen P. Daiger spends much of his time researching Genetics, Retinitis pigmentosa, Disease, Gene and Retinal degeneration. His Genetics study focuses mostly on Mutation, Haplotype, Genetic linkage, Autosomal dominant retinitis pigmentosa and Exome sequencing. His Retinitis pigmentosa research integrates issues from Proband, Exome, Genetic heterogeneity, Family history and Novel mutation.

His biological study spans a wide range of topics, including Haploinsufficiency, Asymptomatic and Linkage disequilibrium. Stephen P. Daiger is involved in the study of Gene that focuses on Retinal dystrophy in particular. His Retinal degeneration research incorporates themes from Retinal pigment epithelium, Macular edema and Uveitis.

Between 2014 and 2020, his most popular works were:

  • Molecular findings from 537 individuals with inherited retinal disease (85 citations)
  • Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (67 citations)
  • Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps. (62 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Stephen P. Daiger mostly deals with Genetics, Retinitis pigmentosa, Exome sequencing, Disease and DNA sequencing. He has included themes like Retinal and Bioinformatics in his Genetics study. He mostly deals with PRPF31 in his studies of Retinitis pigmentosa.

His studies examine the connections between Exome sequencing and genetics, as well as such issues in Sanger sequencing, with regards to Missense mutation, Mutation and Microsatellite. Stephen P. Daiger combines subjects such as Autosomal dominant retinitis pigmentosa, Gene and Family history with his study of Disease. The concepts of his DNA sequencing study are interwoven with issues in clone, Penalized likelihood and Sequencing data.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Perspective on Genes and Mutations Causing Retinitis Pigmentosa

Stephen P. Daiger;Sara J. Bowne;Lori S. Sullivan.
Archives of Ophthalmology (2007)

582 Citations

Genes and mutations causing retinitis pigmentosa

Stephen P Daiger;Lori S Sullivan;Sara J Bowne.
Clinical Genetics (2013)

551 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.
Annals of Human Genetics (1992)

433 Citations

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki;Stephen P Daiger;Sara J Bowne;Joseph A. Rodriquez.
Human Mutation (2001)

347 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.
American Journal of Human Genetics (1998)

329 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.
Nature Genetics (2000)

327 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.
Archives of Ophthalmology (1991)

309 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.
Genomics (1989)

305 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.
Investigative Ophthalmology & Visual Science (2006)

294 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.
Genomics (1992)

288 Citations

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