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Genetics

D-Index
63
Citations
13157
World Ranking
2901
National Ranking
1268

Overview

Susan H. Blanton is affiliated with the University of Miami in the United States. Their research spans multiple fields with a focus on neuroscience, biochemistry, genetics, molecular biology, and medicine.

Their main fields of study include:

  • Neuroscience
  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these fields, Blanton has concentrated on subfields such as sensory systems, molecular biology, genetics, neurology, and cognitive neuroscience.

  • Sensory Systems
  • Molecular Biology
  • Genetics
  • Neurology
  • Cognitive Neuroscience

The key topics in their research cover hearing, cochlea, tinnitus, genetics, vestibular and auditory disorders, RNA regulation and disease, retinal development and disorders, genetic associations and epidemiology, hearing loss and rehabilitation, and cleft lip and palate research.

  • Hearing, Cochlea, Tinnitus, Genetics
  • Vestibular and auditory disorders
  • RNA regulation and disease
  • Retinal Development and Disorders
  • Genetic Associations and Epidemiology
  • Hearing Loss and Rehabilitation
  • Cleft Lip and Palate Research

Blanton has published research in several venues with multiple publications in:

  • Alzheimer's & Dementia
  • bioRxiv (Cold Spring Harbor Laboratory)
  • UNC Libraries
  • Gene
  • Genes

Their recent papers include:

  • COVID19: A Systematic Approach to Early Identification and Healthcare Worker Protection (2020), published in Frontiers in Public Health
  • Review of Genotype-Phenotype Correlations in Usher Syndrome (2021), published in Ear and Hearing
  • A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder (2021), published in Proceedings of the National Academy of Sciences
  • Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy (2021), published in International Journal of Molecular Sciences
  • Genetics and the Individualized Therapy of Vestibular Disorders (2021), published in Frontiers in Neurology

Frequent collaborators in Blanton's research include:

  • Xue Zhong Liu
  • Denise Yan
  • Tatjana Rundek
  • William S. Bush
  • Aida Nourbakhsh

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

  • Novel genetic loci associated with hippocampal volume

    Derrek Hibar;Hieab H.H. Adams;Neda Jahanshad;Ganesh Chauhan

  • 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

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

    Arun Kumar;Satish C. Girimaji;Mahesh R. Duvvari;Susan H. Blanton

  • 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

  • Genetic heterogeneity in families with hereditary multiple exostoses.

    April Cook;Wendy Raskind;Susan Halloran Blanton;Richard M. Pauli

  • 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

  • Novel genetic loci underlying human intracranial volume identified through genome-wide association

    Hieab H H Adams;Derrek P. Hibar;Vincent Chouraki;Vincent Chouraki;Vincent Chouraki;Jason L. Stein;Jason L. Stein

  • 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

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

    Xue Zhong Liu;Xia Juan Xia;Li Rong Xu;Arti Pandya

  • Loci associated with ischaemic stroke and its subtypes (SiGN) : A genome-wide association study

    Sara L Pulit;Patrick F McArdle;Quenna Wong;Rainer Malik

  • 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

  • A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    Elizabeth J Leslie;Jenna C Carlson;John R Shaffer;Eleanor Feingold

  • Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

    Brett T. Chiquet;Susan H. Blanton;Amber Burt;Deqiong Ma

  • Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

    Lori S. Sullivan;John R. Heckenlively;Sara J. Bowne;Jian Zuo

  • Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

    Arti Pandya;Kathleen S. Arnos;Xia J. Xia;Katherine O. Welch

  • Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

    Stephan Züchner;Julia Dallman;Rong Wen;Gary Beecham

  • Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI

    Benjamin F J Verhaaren;Stéphanie Debette;Joshua C Bis;Jennifer A Smith

  • Variation in IRF6 contributes to nonsyndromic cleft lip and palate.

    Susan H. Blanton;Amy Cortez;Samuel Stal;John B. Mulliken

  • Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

    J. Stein;J. B. Mulliken;S. Stal;D. L. Gasser

Frequent Co-Authors

Jacqueline T. Hecht
Jacqueline T. Hecht The University of Texas Health Science Center at Houston
Ralph L. Sacco
Ralph L. Sacco University of Miami
Stephen P. Daiger
Stephen P. Daiger The University of Texas Health Science Center at Houston
Tatjana Rundek
Tatjana Rundek University of Miami
Mustafa Tekin
Mustafa Tekin University of Miami
John B. Mulliken
John B. Mulliken Boston Children's Hospital
David G. Birch
David G. Birch The University of Texas Southwestern Medical Center
John R. Heckenlively
John R. Heckenlively University of Michigan–Ann Arbor
Philip L. De Jager
Philip L. De Jager Columbia University
Vincent Chouraki
Vincent Chouraki University of Lille

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