Department of Neurology | 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
Department of Neurology | Publications
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Knocking on opportunity's door. Science. 2016 Oct 21; 354(6310):382. View Knocking on opportunity's door. Abstract
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
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
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
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
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
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
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