Harvard Catalyst Profiles

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Kevin T Booth, Ph.D.

Concepts

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

0.108
  1. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. Hum Genet. 2020 Dec; 139(12):1565-1574.
    View in: PubMed
    Score: 0.010
  2. 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: 0.010
  3. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019 04; 21(4):948-954.
    View in: PubMed
    Score: 0.009
  4. 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: 0.009
  5. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440.
    View in: PubMed
    Score: 0.009
  6. PDZD7 and hearing loss: More than just a modifier. . 2015 Dec; 167A(12):2957-65.
    View in: PubMed
    Score: 0.007
  7. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Hum Genet. 2021 Jun; 140(6):915-931.
    View in: PubMed
    Score: 0.003
  8. 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: 0.003
  9. 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: 0.003
  10. 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: 0.003
  11. When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). J Hum Genet. 2020 Jul; 65(7):609-617.
    View in: PubMed
    Score: 0.003
  12. Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids. Stem Cell Reports. 2019 07 09; 13(1):147-162.
    View in: PubMed
    Score: 0.002
  13. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
    View in: PubMed
    Score: 0.002
  14. 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: 0.002
  15. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 10 04; 103(4):484-497.
    View in: PubMed
    Score: 0.002
  16. CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 03 01; 27(5):780-798.
    View in: PubMed
    Score: 0.002
  17. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO Mol Med. 2017 12; 9(12):1711-1731.
    View in: PubMed
    Score: 0.002
  18. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct 01; 19(10):720-728.
    View in: PubMed
    Score: 0.002
  19. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 2016 Nov; 125(11):918-923.
    View in: PubMed
    Score: 0.002
  20. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr; 135(4):441-450.
    View in: PubMed
    Score: 0.002
  21. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 2016 May; 125(5):361-8.
    View in: PubMed
    Score: 0.002
  22. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015 Dec; 52(12):823-9.
    View in: PubMed
    Score: 0.002
  23. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar; 11(3):e1005137.
    View in: PubMed
    Score: 0.002
  24. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:169S-76S.
    View in: PubMed
    Score: 0.002
  25. Mutations in LOXHD1 gene cause various types and severities of hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:135S-41S.
    View in: PubMed
    Score: 0.002
  26. Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:177S-83S.
    View in: PubMed
    Score: 0.002
  27. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:184S-92S.
    View in: PubMed
    Score: 0.002
  28. 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: 0.002
  29. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014 Oct 02; 95(4):445-53.
    View in: PubMed
    Score: 0.002
  30. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23.
    View in: PubMed
    Score: 0.002
  31. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
    View in: PubMed
    Score: 0.002
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.