Harvard Catalyst Profiles

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Kevin T Booth, Ph.D.

Concepts

This page shows the publications Kevin Booth has written about Mutation.
Connection Strength

0.620
  1. DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? Int J Mol Sci. 2020 May 31; 21(11).
    View in: PubMed
    Score: 0.150
  2. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440.
    View in: PubMed
    Score: 0.128
  3. PDZD7 and hearing loss: More than just a modifier. . 2015 Dec; 167A(12):2957-65.
    View in: PubMed
    Score: 0.109
  4. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet. 2020 Oct; 139(10):1315-1323.
    View in: PubMed
    Score: 0.037
  5. Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. 2020 04; 41(2):151-158.
    View in: PubMed
    Score: 0.037
  6. Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. Sci Rep. 2020 04 10; 10(1):6213.
    View in: PubMed
    Score: 0.037
  7. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 10 04; 103(4):484-497.
    View in: PubMed
    Score: 0.033
  8. Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 08; 55(8):555-560.
    View in: PubMed
    Score: 0.033
  9. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23.
    View in: PubMed
    Score: 0.025
  10. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
    View in: PubMed
    Score: 0.009
  11. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613.
    View in: PubMed
    Score: 0.008
  12. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct 01; 19(10):720-728.
    View in: PubMed
    Score: 0.007
  13. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:123S-8S.
    View in: PubMed
    Score: 0.007
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.