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Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene. In western populations, less than one‐half of theExpand
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Seroprevalence of Mycobacterium avium subspecies paratuberculosis in elks in Korea
PARATUBERCULOSIS (Johne's disease) is a chronic infectious disease of domestic and wild ruminants. It is caused by Mycobacterium avium subspecies paratuberculosis (MAP). The host range of MAPExpand
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A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients
Charcot–Marie–Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase.Expand
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An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene
We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A‐to‐G change) in the transthyretin gene. This is the first case of a Glu54GlyExpand
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Outbreak of Brucellosis in Domestic Elk in Korea
Seven of 18 elk on a deer farm were found by the official Rose‐Bengal agglutination test (RBT) and tube agglutination test to be brucellosis reactors/suspects. Evaluation with the competitive ELISAExpand
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Prevalence of the metabolic syndrome among South Korean adults: the Ansan study
  • J. Song, E. Kim, +6 authors I. Jo
  • Medicine
  • Diabetic medicine : a journal of the British…
  • 1 October 2004
The clustering of impaired glucose metabolism, elevated triglycerides, low HDL-cholesterol, high blood pressure, and central obesity constitutes the metabolic syndrome (MS). Because people with MSExpand
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Application of variant‐calling algorithms for Mendelian disorders: lessons from whole‐exome sequencing in Charcot–Marie–Tooth disease
To the Editor : In contrast with traditional genetic approaches for the isolation of disease-causing mutations, which have taken considerable time and effort, recent advent of next-generationExpand