A5101968062- Genetic Syndromes and Imprinting
- Neuroblastoma Research and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neurofibromatosis and Schwannoma Cases
- Sexual Differentiation and Disorders
- Childhood Cancer Survivors' Quality of Life
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Cancer Mechanisms and Therapy
- Meningioma and schwannoma management
- Integrated Circuits and Semiconductor Failure Analysis
- Pancreatic function and diabetes
- Advanced Biosensing Techniques and Applications
- Urological Disorders and Treatments
- Oral and gingival health research
- Adrenal and Paraganglionic Tumors
- Oropharyngeal Anatomy and Pathologies
- Fibroblast Growth Factor Research
- Vitamin D Research Studies
- Chromatin Remodeling and Cancer
- Structural Response to Dynamic Loads
University of California, Los Angeles
2025
Asan Medical Center
2019-2024
Hallym University Sacred Heart Hospital
2024
Ulsan College
2019-2023
University of Ulsan
2019-2023
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...
Abstract Background Endocrine complications such as impaired growth, delayed puberty, and low bone mineral density (BMD) can be associated with inflammatory bowel disease (IBD) in children adolescents. This study was performed to investigate the frequency, characteristics, outcomes of endocrine IBD Methods included 127 patients diagnosed before 18 years age [117 Crohn (CD) 10 ulcerative colitis (UC)]. Growth profiles, pubertal status, 25-hydroxyvitamin D 3 [25(OH)D ] levels, BMD were...
Democratizing biomarker testing at the point-of-care requires innovations that match laboratory-grade sensitivity and precision in an accessible format. Here, high-sensitivity detection of cardiac troponin I (cTnI) is demonstrated through chemiluminescence-based sensing, imaging, deep learning-driven analysis. This chemiluminescence vertical flow assay (CL-VFA) enables rapid, low-cost, precise quantification cTnI, a key protein for assessing heart muscle damage myocardial infarction. The...
As the survival rate from pediatric cancers has increased significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated frequencies and risks of sequelae childhood cancer survivors who received hematopoietic stem cell transplantation (HSCT). included 200 patients underwent HSCT. Clinical endocrinological findings were collected retrospectively. The median follow-up duration after HSCT was 14 years. Endocrine occurred 135...
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...
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal enzymes. It characterized adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated clinical, hormonal, molecular characteristics of patients with Korea. Methods This study included four confirmed biochemical analysis POR. Clinical...
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...
The aim of this study was to describe the application whole exome sequencing (WES) in accurate genetic diagnosis and personalized treatment extremely rare neurogenetic disorders.From 2017 2019, children with neurodevelopmental symptoms were evaluated using WES pediatric neurology clinic medical genetics center. clinical presentation, laboratory findings including results from WES, diagnosis-based outcomes four patients are discussed.A total 376 symptom by (1.1%) diagnosed treatable...
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...
Purpose Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused monogenic diseases, chronic and/or their treatment. This study was performed to investigate the effect pamidronate infusion on children and adolescents. Methods included 13 unrelated pediatric patients (10 males 3 females) whose mineral density (BMD) z-score <-2.0. Pamidronate administered intravenously at dosage 1 mg/kg for...
Purpose Oral supplementation of vitamin D can be inefficient in patients with deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety parenteral infants children Methods included 11 who were unresponsive to oral or unable try therapy due underlying conditions. All treated weekly intramuscular injection cholecalciferol 50,000 IU. Radiological findings biochemical parameters including serum calcium, phosphorus, alkaline phosphatase, 25-hydroxyvitamin...
Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH one more the glands. PHPT uncommon in infants and children, an estimated incidence 2-5 cases per 100,000 persons. Patients usually present bone pain, urolithiasis, nephrolithiasis, as well nonspecific symptoms such fatigue weakness. Asymptomatic may also be detected incidentally. Only few pediatric have been...
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...
A GATA4 haploinsufficiency has been well described in patients with congenital heart defects (CHDs), whilst only a few studies have reported mutations related to 46,XY disorder of sex development (DSD) phenotype. This study investigated the clinical phenotypes and molecular characteristics two DSD harboring variants. Mutation analysis was performed using targeted gene panel or whole-exome sequencing. The transactivation activity each variant protein examined by vitro luciferase reporter...
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...
Abstract Background Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) has a wide phenotypic spectrum including Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). FGFR1 mutations have been identified in 3–10% of patients with KS or nIHH. This study was performed to investigate clinical phenotypes functional characteristics IGD. Methods included 8 (from 7 families) by targeted gene panel sequencing whole exome (WES). The impact the on function...
Democratizing biomarker testing at the point-of-care requires innovations that match laboratory-grade sensitivity and precision in an accessible format. Here, we demonstrate high-sensitivity detection of cardiac troponin I (cTnI) through chemiluminescence-based sensing, imaging, deep learning-driven analysis. This chemiluminescence vertical flow assay (CL-VFA) enables rapid, low-cost, precise quantification cTnI, a key protein for assessing heart muscle damage myocardial infarction. The...
Abstract Patients with a hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term consequences in patients GSDs. included 64 from 52 families GSDs including GSD Ia (41 37 families), Ib (3 unrelated), III (8 6 IV (1 patient), and IX (11 5 families). All were genetically confirmed. Clinical findings retrospectively analyzed. The median age at diagnosis current 2.4 years...
Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes Pediatric Endocrine Metabolic Disease (OUTSPREAD) study was initiated. This involves 30 centers across Korea. The aims improve prognosis Korean patients with rare by collecting...
Abstract Purpose Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited tumor syndromes caused by mutations in the MEN1 or RET genes. This study aimed to investigate clinical outcomes molecular characteristics among children with MEN. Methods included eight patients from seven unrelated families. Data on course, biochemical findings, radiologic studies were collected retrospective chart review. All diagnoses genetically confirmed Sanger sequencing of three four MEN2A one...
The prevalence of monogenic diabetes is estimated to be 1.1-6.3% patients with mellitus (DM) in Europe. overlapping clinical features various forms make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and characteristics pediatric diabetes, including who presented at a single tertiary center over last 20 years.This included 276 consecutive DM diagnosed before 18 years age from January 2000 December 2019 Korea. Clinical features, biochemical...