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Researcher | 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.

Researcher | 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.

Researcher | Publications

  1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

  2. Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral Cortex. bioRxiv. 2024 Oct 09. View Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral Cortex. Abstract

  3. Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice. Front Genet. 2024; 15:1448383. View Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice. Abstract

  4. Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. bioRxiv. 2024 Jun 10. View Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. Abstract

  5. High-resolution detection of copy number alterations in single cells with HiScanner. bioRxiv. 2024 Apr 29. View High-resolution detection of copy number alterations in single cells with HiScanner. Abstract

  6. 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 Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

  7. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

  8. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Abstract

  9. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. Abstract

  10. 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 A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Abstract

  11. 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 Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Abstract

  12. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Ann Clin Transl Neurol. 2022 07; 9(7):1080-1089. View Biallelic loss of EMC10 leads to mild to severe intellectual disability. Abstract

  13. 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 A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Abstract

  14. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View Unusual Behaviors in a 7-year-old Boy. Abstract

  15. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Polymicrogyria is Associated With Pathogenic Variants in PTEN. Abstract

  16. Knocking on opportunity's door. Science. 2016 Oct 21; 354(6310):382. View Knocking on opportunity's door. Abstract

  17. Characterizing genomic alterations in cancer by complementary functional associations. Nat Biotechnol. 2016 05; 34(5):539-46. View Characterizing genomic alterations in cancer by complementary functional associations. Abstract

  18. KRAS and YAP1 converge to regulate EMT and tumor survival. Cell. 2014 Jul 03; 158(1):171-84. View KRAS and YAP1 converge to regulate EMT and tumor survival. Abstract

  19. Natural variation and artificial selection in four genes determine grain shape in rice. New Phytol. 2013 Dec; 200(4):1269-80. View Natural variation and artificial selection in four genes determine grain shape in rice. Abstract

  20. ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens. Genome Res. 2013 Apr; 23(4):665-78. View ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens. Abstract

  21. ß-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis. Cell. 2012 Dec 21; 151(7):1457-73. View ß-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis. Abstract

  22. 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 Natural variation in GS5 plays an important role in regulating grain size and yield in rice. Abstract

  23. Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation. J Leukoc Biol. 2008 Jun; 83(6):1323-33. View Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation. Abstract

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