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Diagnosing and Preventing Hearing Loss in the Genomic Age.
Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983.
Trends Hear. 2019.
PMID: 31621509
Free PMC article.
Review.
Cochlear implantation in the era of genomic medicine.
Molina-Ramirez LP, Bruce IA, Black GCM.
Molina-Ramirez LP, et al.
Cochlear Implants Int. 2020 Mar;21(2):117-120. doi: 10.1080/14670100.2019.1678895. Epub 2019 Oct 24.
Cochlear Implants Int. 2020.
PMID: 31648626
No abstract available.
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The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Molina-Ramírez LP, Burkitt-Wright EM, Saeed H, McDermott JH, Kyle C, Wright R, Campbell C, Bhaskar SS, Taylor A, Dutton L, Forde C, Metcalfe K, Smith A, Clayton-Smith J, Douzgou S, Chandler K, Briggs TA, Banka S, Newman WG, Gokhale D, Bruce IA, Black GC.
Molina-Ramírez LP, et al.
Clin Otolaryngol. 2021 Nov;46(6):1257-1262. doi: 10.1111/coa.13826. Epub 2021 Jul 5.
Clin Otolaryngol. 2021.
PMID: 34171171
No abstract available.
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A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG.
Demain LAM, et al. Among authors: molina ramirez lp.
J Hum Genet. 2020 Mar;65(3):305-311. doi: 10.1038/s10038-019-0706-1. Epub 2019 Dec 12.
J Hum Genet. 2020.
PMID: 31827252
Free PMC article.
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Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM.
Molina-Ramírez LP, et al.
Otol Neurotol. 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588.
Otol Neurotol. 2020.
PMID: 32176120
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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D.
Molina-Ramírez LP, et al.
J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20.
J Med Genet. 2022.
PMID: 33879512
Free PMC article.
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