Sangmoon Lee
A5101420264- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Semiconductor Quantum Structures and Devices
- Colorectal Cancer Treatments and Studies
- Photonic and Optical Devices
- RNA regulation and disease
- Blood disorders and treatments
- Epigenetics and DNA Methylation
- Pneumocystis jirovecii pneumonia detection and treatment
- RNA modifications and cancer
- BRCA gene mutations in cancer
- Microtubule and mitosis dynamics
- Semiconductor materials and devices
- Pancreatic and Hepatic Oncology Research
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Molecular Biology Techniques and Applications
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
Children’s Institute
2019-2025
University of California, San Diego
2019-2025
Agency for Defense Development
2024
University of Hong Kong
2024
Chinese University of Hong Kong
2024
Rady Children's Hospital-San Diego
2019-2023
Seoul National University
2014-2023
Samsung (South Korea)
2002-2023
Genome Insight (South Korea)
2023
Howard Hughes Medical Institute
2019
Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduction power studying non-Caucasians. Here we report a compilation coding variants from 1,055 healthy Korean individuals (KOVA; Variant Archive). The samples were sequenced mean depth 75x, yielding 101 singleton per individual. Population genetics analysis demonstrates that the population is distinct ethnic group...
Abstract GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) complex and facilitates formation small nuclear ribonucleoproteins (snRNPs), building blocks spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, cerebellar ataxia harboring biallelic variants in GEMIN5 gene. Mutations perturb subcellular distribution, stability, expression its interacting partners patient...
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss
Adolescent idiopathic scoliosis (AIS) is the most common nondegenerative spinal abnormality. Research indicates a strong correlation between genetics and AIS, with heritability estimates of 87.5%. However, rarity shared causative genes among patients, difficulty replication studies suggest that AIS highly complex polygenic disease. In this study, we utilized whole-genome sequencing (WGS) to comprehensively explore genetic landscape 119 patients from 103 families. We implemented an automated...
"CGE25-108: Uncovering APOBEC Mutational Signatures in Cancer: The Power of Whole Genome Sequencing for Comprehensive Genomic Profiling" published on 28 Mar 2025 by National Cancer Network.
Background & Aims: Next generation sequencing, specifically whole genome sequencing (WGS), plays a key role in precision medicine. Currently, the main source of cancer biospecimens for WGS is formalin-fixed, paraffin-embedded (FFPE) tissues. This partly because cryopreserved (CP) tissues have not been routinely stored real-world clinical settings. study aimed to compare outcomes by using matched CP and FFPE samples. We hypothesized that samples would demonstrate superior quality metrics...
Abstract Genomic alterations in tumors play a pivotal role determining their clinical trajectory and responsiveness to treatment. Targeted panel sequencing (TPS) has served as key tool over the past decade, but advancements costs bioinformatics have now made whole-genome (WGS) feasible single-assay approach for almost all cancer genomes settings. This paper reports on findings of prospective, single-center study exploring real-world utility WGS (tumor matched normal tissues) two primary...
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report human patient presenting with congenital nephrotic syndrome, omphalocele microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited each parent....
<b><i>Introduction:</i></b> Breast cancer exhibits vast genomic diversity, leading to varied clinical manifestations. Integrating molecular subtyping with in-depth profiling is pivotal for informed treatment choices and prognostic insights. Whole-genome analysis provides a holistic view of genome-wide variations, capturing structural changes affirming tumor suppressor gene loss heterozygosity. <b><i>Case Presentation:</i></b> Here we detail...
Transcriptome profiling of tubulointerstitial tissue in glomerulonephritis may reveal a potential injury-related biomarker. We profiled manually microdissected from biopsy cores 65 cases, including 43 patients with IgA nephropathy, 3 diabetes mellitus focal segmental glomerulosclerosis, lupus nephritis, 4 membranous nephropathy and 9 minimal change disease, additional 22 nephrectomy controls by RNA sequencing. A biomarker was selected based on the false discovery rate, experiments were...
Abstract Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each surviving child faces tremendous lifetime medical caregiving burdens. Both genetic environmental factors contribute to disease risk but the mechanism is unclear. This study examined 506 MMC subjects for ultra-rare deleterious variants (URDVs, absent gnomAD v2.1.1 controls that have Combined Annotation Dependent Depletion score ≥ 20) candidate genes either known cause abnormal neural tube closure animals...
Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants the CAPN15 gene. Biallelic missense have reported to demonstrate a phenotype of eye abnormalities and developmental delay, while loss function exhibit phenotypes including microcephaly craniofacial abnormalities, cardiac genitourinary malformations, abnormal neurologic activity. We report six from three unrelated families harboring...
Farber disease is a very rare autosomal recessive caused by mutation of ASAH1 that results in the accumulation ceramide various tissues. Clinical symptoms classic comprise painful joint deformity, hoarseness voice, and subcutaneous nodules. Here, we describe patient with atypical presentation early onset hypotonia, sacral mass, congenital heart disease, dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, thrive, contractures developed. Using whole‐exome...