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 Pedigree.
Connection Strength

0.892
  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: 0.120
  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: 0.120
  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: 0.107
  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: 0.104
  5. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440.
    View in: PubMed
    Score: 0.102
  6. PDZD7 and hearing loss: More than just a modifier. . 2015 Dec; 167A(12):2957-65.
    View in: PubMed
    Score: 0.087
  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: 0.031
  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: 0.030
  9. 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: 0.030
  10. 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: 0.030
  11. 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: 0.026
  12. 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: 0.025
  13. 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: 0.021
  14. 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: 0.021
  15. 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: 0.021
  16. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23.
    View in: PubMed
    Score: 0.020
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.