Information

Related Research Units

Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center
Neurology Research
Genetics and Genomics Research
Walsh Laboratory Research
F.M. Kirby Neurobiology Center

Research Overview

Dr. Shao is a physician-scientist at Boston Children's Hospital whose clinical and research expertise focuses on determining the causes of childhood neurogenetic disorders, with specific focus on disorders that result in brain malformations and neurodevelopmental disabilities. One aspect of her work focuses on somatic mutations, those that impact a subset of cells in the body, as it is not yet clear how often such mutations impact human disease or human phenotypic variability. Her studies of somatic mutations involve patient disease cohorts as well as direct interrogation of human brain tissue using single-cell technology. Dr. Shao is also a principal investigator for the Center for Rare Disease Brain Malformations cohort at Boston Children's Hospital which aims to determine novel genetic causes of brain malformations.

Research Background

Dr. Shao became inspired by scientific research as an undergraduate at Rice University where she graduated summa cum laude with majors in biochemistry and statistics. Subsequently she completed the Harvard Medical Scientist Training Program where her Ph.D. explored cancer genetic susceptibilities using genome-scale experimental and computational techniques. When Dr. Shao became interest in child neurology, she leveraged her extensive genomics background to work on critical questions in neurodevelopment.

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

  1. High-resolution detection of copy number alterations in single cells with HiScanner. Nat Commun. 2025 Jul 01; 16(1):5477. View Abstract
  2. Cell-type-specific patterns and consequences of somatic mutation in development and aging brain. bioRxiv. 2025 May 31. View Abstract
  3. Spatial transcriptomics reveals human cortical layer and area specification. Nature. 2025 Aug; 644(8075):153-163. View Abstract
  4. Advances in single-cell DNA sequencing enable insights into human somatic mosaicism. Nat Rev Genet. 2025 Nov; 26(11):761-774. View Abstract
  5. Perinatal Elimination of Genetically Aberrant Neurons from Human Cerebral Cortex. bioRxiv. 2025 Apr 03. View Abstract
  6. High-resolution detection of copy number alterations in single cells with HiScanner. bioRxiv. 2025 Apr 03. View Abstract
  7. Does the charitable medical assistance program impact catastrophic medical expenditures for families of children with leukemia? An evidence-based study in China. Int J Equity Health. 2025 Mar 17; 24(1):75. View Abstract
  8. Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. bioRxiv. 2025 Mar 08. View Abstract
  9. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
  10. Nivolumab plus anlotinib hydrochloride in advanced gastric adenocarcinoma and esophageal squamous cell carcinoma: the phase II OASIS trial. Nat Commun. 2024 10 15; 15(1):8876. View Abstract
  11. Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice. Front Genet. 2024; 15:1448383. View Abstract
  12. Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. bioRxiv. 2024 Jun 10. View Abstract
  13. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
  14. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
  15. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract
  16. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Abstract
  17. A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Clin Genet. 2023 07; 104(1):73-80. View Abstract
  18. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. View Abstract
  19. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Ann Clin Transl Neurol. 2022 07; 9(7):1080-1089. View Abstract
  20. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View Abstract
  21. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View Abstract
  22. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
  23. Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. Cancer Sci. 2020 Feb; 111(2):647-657. View Abstract
  24. Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules. J Thorac Dis. 2018 Apr; 10(Suppl 7):S820-S829. View Abstract
  25. Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer. Genes Chromosomes Cancer. 2018 04; 57(4):211-220. View Abstract
  26. Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients. Cancer Sci. 2017 Dec; 108(12):2487-2494. View Abstract
  27. Knocking on opportunity's door. Science. 2016 Oct 21; 354(6310):382. View Abstract
  28. The redox mechanism for vascular barrier dysfunction associated with metabolic disorders: Glutathionylation of Rac1 in endothelial cells. Redox Biol. 2016 10; 9:306-319. View Abstract
  29. Characterizing genomic alterations in cancer by complementary functional associations. Nat Biotechnol. 2016 05; 34(5):539-46. View Abstract
  30. Overexpression of Catalase Diminishes Oxidative Cysteine Modifications of Cardiac Proteins. PLoS One. 2015; 10(12):e0144025. View Abstract
  31. KRAS and YAP1 converge to regulate EMT and tumor survival. Cell. 2014 Jul 03; 158(1):171-84. View Abstract
  32. Natural variation and artificial selection in four genes determine grain shape in rice. New Phytol. 2013 Dec; 200(4):1269-80. View Abstract
  33. ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens. Genome Res. 2013 Apr; 23(4):665-78. View Abstract
  34. ß-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis. Cell. 2012 Dec 21; 151(7):1457-73. View Abstract
  35. Natural variation in GS5 plays an important role in regulating grain size and yield in rice. Nat Genet. 2011 Oct 23; 43(12):1266-9. View Abstract
  36. Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation. J Leukoc Biol. 2008 Jun; 83(6):1323-33. View Abstract

Contact Diane Shao

Phone: 617-919-3534
Print Profile