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 Female.
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: 0.014
  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: 0.014
  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: 0.012
  4. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440.
    View in: PubMed
    Score: 0.012
  5. PDZD7 and hearing loss: More than just a modifier. Am J Med Genet A. 2015 Dec; 167A(12):2957-65.
    View in: PubMed
    Score: 0.010
  6. Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin Genet. 2021 07; 100(1):59-78.
    View in: PubMed
    Score: 0.004
  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: 0.004
  8. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021 06; 29(6):988-997.
    View in: PubMed
    Score: 0.004
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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: 0.003
  14. 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: 0.003
  15. 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: 0.003
  16. 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: 0.003
  17. 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
  18. 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
  19. 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
  20. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23.
    View in: PubMed
    Score: 0.002
  21. 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.