Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Kevin T Booth, Ph.D.

Concepts

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

2.655
  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: 0.677
  2. 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: 0.600
  3. PDZD7 and hearing loss: More than just a modifier. . 2015 Dec; 167A(12):2957-65.
    View in: PubMed
    Score: 0.488
  4. 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: 0.167
  5. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
    View in: PubMed
    Score: 0.155
  6. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 10 04; 103(4):484-497.
    View in: PubMed
    Score: 0.150
  7. 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: 0.142
  8. 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: 0.129
  9. 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: 0.029
  10. 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: 0.029
  11. 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: 0.029
  12. 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: 0.029
  13. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23.
    View in: PubMed
    Score: 0.028
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.