Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.

Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J Pediatr (1990) 1.08

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet (2013) 0.89

Mosaic deletion of 20pter due to rescue by somatic recombination. Am J Med Genet A (2015) 0.85

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features. Eur J Med Genet (2013) 0.84

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model. Am J Med Genet A (2009) 0.83

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype. Gene (2012) 0.82

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. Am J Med Genet A (2011) 0.82

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion. Ann Lab Med (2011) 0.82

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype? Eur J Med Genet (2012) 0.81

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. Eur J Med Genet (2012) 0.81

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015. Ann Lab Med (2016) 0.90

Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. Ann Lab Med (2015) 0.81

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants. Breast Cancer Res Treat (2016) 0.79

Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion. Pediatr Neurol (2008) 0.78

t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia. Ann Lab Med (2016) 0.77

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. J Med Genet (2015) 0.77

Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia. Ann Lab Med (2017) 0.75

Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia. Ann Lab Med (2017) 0.75

Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion. Ann Lab Med (2016) 0.75

A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma. Ann Lab Med (2017) 0.75

Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia. Ann Lab Med (2016) 0.75

Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors. Ann Lab Med (2017) 0.75

NOTCH2 missplicing can occur in relation to apoptosis. Blood (2015) 0.75

Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma. Blood Res (2014) 0.75

Identification of cell morphology parameters from automatic hematology analyzers to predict the peripheral blood CD34-positive cell count after mobilization. PLoS One (2017) 0.75

Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication. Ann Lab Med (2016) 0.75

A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization. PLoS One (2017) 0.75

Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population. Ann Lab Med (2018) 0.75

Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies. Ann Lab Med (2019) 0.75

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea. Ann Lab Med (2020) 0.75