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 58 Citations 10,489 228 World Ranking 2547 National Ranking 1116

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Her primary areas of investigation include Genetics, Locus, Gene mapping, Gene and Genetic linkage. Retinitis pigmentosa, Mutation, Haplotype, Allele and Genetic heterogeneity are among the areas of Genetics where the researcher is concentrating her efforts. Her research in Allele intersects with topics in Sensorineural hearing loss and Polymerase chain reaction.

Her Locus research incorporates themes from Polymorphic Microsatellite Marker and Hearing loss, Audiology. She interconnects Linkage, Immunology and Gene mutation in the investigation of issues within Gene mapping. The concepts of her Genetic linkage study are interwoven with issues in Genetic marker and X chromosome.

Her most cited work include:

  • Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. (288 citations)
  • Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. (206 citations)
  • Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly (187 citations)

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

Her primary areas of study are Genetics, Gene, Genetic linkage, Locus and Hearing loss. All of her Genetics and Haplotype, Genetic heterogeneity, Candidate gene, Gene mapping and Single-nucleotide polymorphism investigations are sub-components of the entire Genetics study. Susan H. Blanton has included themes like Genetic variation and Bioinformatics in her Single-nucleotide polymorphism study.

The Genetic linkage study combines topics in areas such as Chromosome and Linkage. Her Locus research also works with subjects such as

  • Retinitis pigmentosa and related Retinal degeneration,
  • Allele and related Craniofacial. Her work on Sensorineural hearing loss as part of general Hearing loss study is frequently linked to GJB6, bridging the gap between disciplines.

She most often published in these fields:

  • Genetics (86.81%)
  • Gene (30.64%)
  • Genetic linkage (28.09%)

What were the highlights of her more recent work (between 2017-2021)?

  • Genetics (86.81%)
  • Hearing loss (19.57%)
  • Gene (30.64%)

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

Susan H. Blanton mostly deals with Genetics, Hearing loss, Gene, Genome-wide association study and Disease. Her research in Phenotype, Candidate gene, Exome, Quantitative trait locus and Haplotype are components of Genetics. Her Quantitative trait locus research incorporates elements of Subclinical infection, Whole genome sequencing and Locus.

Her Hearing loss research includes themes of Genetic heterogeneity, Inner ear, Genetic enhancement and MYO7A. Her Genome-wide association study research is multidisciplinary, incorporating perspectives in Genetic association and Bioinformatics. She interconnects Healthcare worker, Outbreak and Intensive care medicine in the investigation of issues within Disease.

Between 2017 and 2021, her most popular works were:

  • Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies (42 citations)
  • Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A (13 citations)
  • FOXF2 is required for cochlear development in humans and mice. (10 citations)

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

  • Gene
  • Mutation
  • Genetics

Susan H. Blanton focuses on Hearing loss, Genetics, Disease, Gene and Genome-wide association study. Her Hearing loss research incorporates themes from Hispanic population, Genetic variants, Genetic predisposition and Clinical psychology. Her study on Genetics is mostly dedicated to connecting different topics, such as Sensorineural hearing loss.

Her biological study spans a wide range of topics, including Healthcare worker, Outbreak and Intensive care medicine. Susan H. Blanton combines subjects such as Odds ratio, SNP, Kidney disease, Bioinformatics and Genetic association with her study of Genome-wide association study. The concepts of her Genetic heterogeneity study are interwoven with issues in Proband, Nonsyndromic deafness, CDH23, Genetic linkage and MYO7A.

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

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

R. S. Kandt;J. L. Haines;M. Smith;H. Northrup.
Nature Genetics (1992)

425 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

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

Arun Kumar;Satish C. Girimaji;Mahesh R. Duvvari;Susan H. Blanton.
American Journal of Human Genetics (2009)

278 Citations

Genetic heterogeneity in families with hereditary multiple exostoses.

April Cook;Wendy Raskind;Susan Halloran Blanton;Richard M. Pauli.
American Journal of Human Genetics (1993)

263 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.
Human Molecular Genetics (2002)

257 Citations

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

Jacqueline T Hecht;Deborah Hogue;Louise C. Strong;Marc F. Hansen.
American Journal of Human Genetics (1995)

254 Citations

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

Xue Zhong Liu;Xia Juan Xia;Li Rong Xu;Arti Pandya.
Human Molecular Genetics (2000)

251 Citations

Novel genetic loci associated with hippocampal volume

Derrek Hibar;Hieab H.H. Adams;Neda Jahanshad;Ganesh Chauhan.
Nature Communications (2017)

241 Citations

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell.
American Journal of Human Genetics (2011)

214 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.
Genomics (1991)

210 Citations

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