Sung‐Hae Kang
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View article: Addendum: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Addendum: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) Open
View article: 3D genome organization shapes DNA damage susceptibility to platinum-based drugs
3D genome organization shapes DNA damage susceptibility to platinum-based drugs Open
Platinum (Pt) drugs are widely utilized in cancer chemotherapy. Although cytotoxic and resistance mechanisms of Pt drugs have been thoroughly explored, it remains elusive what factors affect the receptiveness of DNA to drug-induced damage …
View article: P734: Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA
P734: Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA Open
View article: 21: Atypical MCC and microarray results from multiple gestation pregnancies
21: Atypical MCC and microarray results from multiple gestation pregnancies Open
View article: P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* Open
To assist clinical laboratories in performing consistent and transparent classification of constitutional copy number variants (CNVs), the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) …
View article: 523 Fetal and Neonatal Outcomes after “Atypical Finding for Sex Chromosomes” on Cell-Free Fetal DNA Screening
523 Fetal and Neonatal Outcomes after “Atypical Finding for Sex Chromosomes” on Cell-Free Fetal DNA Screening Open
View article: Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing
Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing Open
View article: Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing Open
View article: A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay Open
View article: Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants
Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants Open
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)
View article: USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Open