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Diane Shao, MD, PhD
Neurologist, Department of Neurology
Instructor of Neurology, Harvard Medical School
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Diane Shao, MD, PhD
Neurologist, Department of Neurology
Instructor of Neurology, Harvard Medical School
Medical Services
Languages
Chinese
Education
Medical School
Harvard Medical School
2015
Boston
MA
Residency
Boston Children's Hospital / Boston Medical Center
2017
Boston
MA
Fellowship
Neurology
Boston Children's Hospital
2020
Boston
MA
Fellowship
Neurogenetics
Boston Children's Hospital
2021
Boston
MA
Publications
High-resolution detection of copy number alterations in single cells with HiScanner. View Abstract
Cell-type-specific patterns and consequences of somatic mutation in development and aging brain. View Abstract
Spatial transcriptomics reveals human cortical layer and area specification. View Abstract
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism. View Abstract
Perinatal Elimination of Genetically Aberrant Neurons from Human Cerebral Cortex. View Abstract
High-resolution detection of copy number alterations in single cells with HiScanner. View Abstract
Does the charitable medical assistance program impact catastrophic medical expenditures for families of children with leukemia? An evidence-based study in China. View Abstract
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Nivolumab plus anlotinib hydrochloride in advanced gastric adenocarcinoma and esophageal squamous cell carcinoma: the phase II OASIS trial. View Abstract
Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice. View Abstract
Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. View Abstract
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. View Abstract
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. View Abstract
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. View Abstract
Biallelic loss of EMC10 leads to mild to severe intellectual disability. View Abstract
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. View Abstract
Unusual Behaviors in a 7-year-old Boy. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. View Abstract
Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules. View Abstract
Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer. View Abstract
Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients. View Abstract
Knocking on opportunity's door. View Abstract
The redox mechanism for vascular barrier dysfunction associated with metabolic disorders: Glutathionylation of Rac1 in endothelial cells. View Abstract
Characterizing genomic alterations in cancer by complementary functional associations. View Abstract
Overexpression of Catalase Diminishes Oxidative Cysteine Modifications of Cardiac Proteins. View Abstract
KRAS and YAP1 converge to regulate EMT and tumor survival. View Abstract
Natural variation and artificial selection in four genes determine grain shape in rice. View Abstract
ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens. View Abstract
ß-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis. View Abstract
Natural variation in GS5 plays an important role in regulating grain size and yield in rice. View Abstract
Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation. View Abstract
Locations