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The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
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.
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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Diagnosing and Preventing Hearing Loss in the Genomic Age.
McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG.
McDermott JH, et al. Among authors: molina ramirez lp.
Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983.
Trends Hear. 2019.
PMID: 31621509
Free PMC article.
Review.
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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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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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