A5025008274- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Neurofibromatosis and Schwannoma Cases
- Cancer Genomics and Diagnostics
- Education and Learning Interventions
- Machine Learning in Healthcare
- Health, Environment, Cognitive Aging
- BRCA gene mutations in cancer
- Health and Wellbeing Research
- Patient Dignity and Privacy
- Chromatin Remodeling and Cancer
- Genomic variations and chromosomal abnormalities
- Cancer Mechanisms and Therapy
- Genetics and Neurodevelopmental Disorders
- Trace Elements in Health
- Family Support in Illness
- Metabolism and Genetic Disorders
- Ethics in medical practice
- Neuroblastoma Research and Treatments
- Adrenal and Paraganglionic Tumors
- Diverse Approaches in Healthcare and Education Studies
- Family and Disability Support Research
- Stroke Rehabilitation and Recovery
- Mitochondrial Function and Pathology
- Geriatric Care and Nursing Homes
University of Ulsan
2013-2025
Ulsan College
2013-2025
Asan Medical Center
2013-2022
Medical Genetics Center
2019-2020
Gwangju Health University
2005-2017
National Cancer Center
2012
Gwangju University
2008-2012
University of Southern California
2006-2007
Kyungpook National University
2003
Ewha Womans University
2002
Summary Because many communities where older people live were not designed for their needs, residents may require support to remain in the least restrictive environment. ‘Age-prepared communities’ utilize community planning and advocacy foster aging place. ‘Elder-friendly are places that actively involve, value, adults, both active frail, with infrastructure services effectively accommodate changing needs. This paper presents an analysis of literature results a Delphi study identifying most...
Abstract EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0‐68 years) disorders were subjected sequencing. Candidate variants identified by and confirmed testing family members and/or clinical reassessments. reported a total 228 200 (60.6%) probands. The average number organs involved...
The MEK inhibitor, selumetinib, reduces plexiform neurofibroma (PN) in pediatric patients with neurofibromatosis type 1 (NF1). Its safety and efficacy adults PN effectiveness other NF1 manifestations (eg, neurocognitive function, growth reduction, café-au-lait spots) are unknown.
The diagnostic yield of whole-exome sequencing (WES) varies from 30%-50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis undiagnosed has increased the total by 10-15%. Here, we performed proband-only WES 1065 NDD/ID and applied a prospective, daily automated pipeline without clinically significant variants facilitate diagnoses.The study included consecutive 1056 nonconsanguineous unrelated families 10...
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only few cases have been reported in East Asian countries. Here, we describe four Korean children affected by MDS. The DGUOK, POLG1, MPV17 genes were analyzed, all patients had mutations.
The Genetic Counseling Outcome Scale (GCOS-24) was developed to measure patient-reported outcomes evaluate the effectiveness of genetic counseling and testing services. In current study, Korean version GCOS (K-GCOS) reflect sociocultural characteristics Korea, its clinical applicability assessed. Overall, 231 Koreans, including patients with diseases their family members, participated completed K-GCOS, Hospital Anxiety Depression (HADS), Multidimensional Health Locus Control (MHLC) scale,...
Falls and fall-related injuries, prevalent among older adults, not only have devastating consequences for adults in terms of morbidity mortality, but are also associated with high health care costs. Studies found that multifactorial intervention strategies can effectively prevent and/or reduce falls adults. The purpose this article is to describe evidence-based community-dwelling Fall prevention efforts clearly an important area promotion injury prevention, evidence presented provides...
Abstract Background Neurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings evaluated by whole-body magnetic resonance imaging (WBMRI) in NF1 patients < 3 years old assessed contribution to progression presented herein. Methods This study included 70 clinically or genetically diagnosed who received WBMRI before old. Clinical, genetic, radiologic features were collected retrospective chart...
Background To identify biochemical and genetic features that characterise neurological Wilson disease as a distinct subgroup. Methods Detailed profiles genotypic characteristics of (86 patients) hepatic subgroups (233 from 368 unrelated Korean families were analysed. Results Compared with patients in the subgroup, subgroup had later age at onset, higher proportion Kayser-Fleischer rings serum creatinine levels, lower favourable outcome (62% vs 80%, P<0.016). At diagnosis, ceruloplasmin...
Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by loss-of-function mutation in maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, suspicion difficult for physician. In the current study, frequency among Korean pediatric patients with developmental delay (DD) or intellectual disability (ID) was assessed. As first report SYS, our study aims increase awareness this condition physicians taking care DD/ID...
Defects in the mitochondrial genome (mitochondrial DNA (mtDNA)) are associated with both congenital and acquired disorders humans. Nuclear-encoded polymerase subunit gamma (POLG) plays an important role mtDNA replication, proofreading mutations POLG have been linked increased deletions. SSBP1 is also a crucial gene for replication. Here, we describe patient diagnosed Pearson syndrome large deletions that were not detected somatic cells of mother. Exome sequencing was used to evaluate nuclear...
The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the characteristics results propranolol- or alpelisib-treated patients with overgrowth.Fifteen were involved. Clinical whole-body magnetic resonance imaging (WB-MRI) findings evaluated. Targeted exome sequencing a gene panel affected tissue peripheral white blood cells was performed. Propranolol administered PIK3CA inhibitor alpelisib prescribed via managed access...
Background ARID2 belongs to the Switch/sucrose non-fermenting complex, in which genetic defects have been found patients with dysmorphism, short stature and intellectual disability (ID). As phenotypes of mutations partially overlap those RASopathy, this study evaluated biochemical association between RAS-MAPK pathway. Methods The 22 either an heterozygous mutation or haploinsufficiency were reviewed. Comprehensive molecular analyses performed using somatic induced pluripotent stem cells...
Abstract Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling associated with the regulation of DNA accessibility. Germline mutations in components SWI/SNF are related to human developmental disorders, including Coffin–Siris syndrome (CSS), Nicolaides–Baraitser (NCBRS), and nonsyndromic intellectual disability. These disorders collectively referred as complex-related disability (SSRIDDs). Methods Whole-exome sequencing was...
The purpose of this study was to identify the degree attaining a smoking cessation goal when an agreement on means achieve among male college student smokers established.This planned as nonequivalent control group non-synchronized design and sample divided into comparison by convenience sampling in G city. data analysed with SPSS Win10.0 using Likelihood chi2-test, Odds ratio, Paired t-test ANCOVA.The theory that will be higher than Comparison rejected (delta = 2.567, p .055). nicotine...
Abstract Purpose EVIDENCE, an automated interpretation system, has been developed to facilitate the entire process of whole exome sequencing (WES) analyses. This study investigated diagnostic yield EVIDENCE in patients suspected genetic disorders. Methods DNA from 330 probands (age range, 0–68 years) with disorders were subjected WES. Candidate variants identified by and confirmed testing family members and/or clinical reassessments. Results The average number overlapping organ categories...