Genetic therapies for hearing loss: Accomplishments and remaining challenges. Taiber Shahar et al. Neuroscience letters 2019 Oct 134527

Main|Search|PHGKB




Last Posted: Oct 07, 2019

---

• Genetic therapies for hearing loss: Accomplishments and remaining challenges.
  Taiber Shahar et al. Neuroscience letters 2019 Oct 134527
• Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
  Dai Pu et al. American journal of human genetics 2019 Sep
• GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank
  HRR Wells et al, AJHG, September 26, 2019
• Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
  Yuan Yongyi et al. European journal of human genetics : EJHG 2019 Sep
• Genetics of Hereditary Hearing Loss in the Middle East: A Systematic Review of the Carrier Frequency of the GJB2 Mutation (35delG).
  Koohiyan Mahbobeh et al. Audiology & neuro-otology 2019 Sep 1-5
• Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.
  Zou Songfeng et al. Clinical genetics 2019 Sep
• Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1 -mediated Paget's disease of bone.
  Cronin Owen et al. BMJ open 2019 Sep 9(9) e030689
• [Pay attention to rare diseases of the genetic counseling in deafness].
  Wang Q J et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2019 Sep 33(9) 799-803
• Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA.
  Wang Yabing et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Aug
• Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
  Oldak Monika et al. Journal of translational medicine 2019 Aug 17(1) 269

more