A5013851786- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- RNA modifications and cancer
- RNA Research and Splicing
- Single-cell and spatial transcriptomics
- Genomics and Rare Diseases
- Genetic and Kidney Cyst Diseases
- Neurogenesis and neuroplasticity mechanisms
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Genomics and Chromatin Dynamics
- MicroRNA in disease regulation
- Glioma Diagnosis and Treatment
- Pluripotent Stem Cells Research
- Neonatal and fetal brain pathology
- Microtubule and mitosis dynamics
- Congenital Ear and Nasal Anomalies
- Renal and related cancers
- Genetic Associations and Epidemiology
University of Washington
2014-2024
Seattle University
2017-2024
Seattle Children's Hospital
2013-2023
Pediatrics and Genetics
2023
Brotman Baty Institute
2020-2022
University of Southern California
2010-2021
San Diego State University
2015
Drexel University
2015
John F. Kennedy Center for the Performing Arts
2015
Vanderbilt University
2015
The genomics of human development Understanding the trajectory a developing requires an understanding how genes are regulated and expressed. Two papers now present pooled approach using three levels combinatorial indexing to examine single-cell gene expression chromatin landscapes from 15 organs in fetal samples. Cao et al. focus on measurements RNA broadly distributed cell types provide insights into organ specificity. Domcke examined accessibility cells these identify regulatory elements...
The genomics of human development Understanding the trajectory a developing requires an understanding how genes are regulated and expressed. Two papers now present pooled approach using three levels combinatorial indexing to examine single-cell gene expression chromatin landscapes from 15 organs in fetal samples. Cao et al. focus on measurements RNA broadly distributed cell types provide insights into organ specificity. Domcke examined accessibility cells these identify regulatory elements...
The cerebellar rhombic lip and telencephalic cortical hem are dorsally located germinal zones which contribute substantially to neuronal diversity in the CNS, but mechanisms that drive neurogenesis within these ill defined. Using genetic fate mapping wild-type Lmx1a −/− mice, we demonstrate is a critical regulator of cell-fate decisions both zones. In developing cerebellum, expressed roof plate, where it required segregate plate lineage from derivatives. addition, subset progenitors produce...
Outbred laboratory mouse populations are widely used in biomedical research. Since little is known about the degree of genetic variation present these populations, they not for studies. Commercially available outbred CD-1 mice drawn from an extremely large breeding population that has accumulated many recombination events, which desirable genome-wide association We therefore examined within to investigate their suitability The genome displays patterns linkage disequilibrium and heterogeneity...
Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, subcortical band heterotopia. Our first classification heterotopia (SBH) was developed to distinguish between the two genetic causes LIS—LIS1 (PAFAH1B1) DCX. However, progress in molecular genetics has led identification 19 LIS‐associated genes, leaving existing system...
We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months birth. Differences in developmental patterns between humans mice include spatiotemporal expansion both ventricular rhombic lip primary progenitor zones subventricular containing basal progenitors. The persists longer through cerebellar development than mouse undergoes morphological changes form a pool posterior lobule, which is not seen other organisms, even nonhuman...
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype–phenotype correlations exist. with loose anagen hair (NS‐LAH) characterized distinctive anomalies, developmental differences, and structural brain abnormalities single recurrent missense SHOC2 mutation. forms complex protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases control activation signaling proteins,...
Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to variation expression, some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome bulk tissue RNA sequencing from dorsolateral prefrontal cortex 176 individuals prenatal postnatal development. Here identify common that alter gene (expression...
Children with autism spectrum disorder (ASD) may present multiple medical conditions in addition to ASD symptoms. This study investigated whether there are predictive patterns of that co‐occur ASD, which could inform evaluation and treatment as well potentially identify etiologically meaningful subgroups. Medical history data were queried the multiplex family Autism Genetic Resource Exchange (AGRE). Fourteen analyzed. Replication Simons Simplex Collection (SSC) was attempted using available...
Medulloblastoma is currently subclassified into distinct DNA methylation subgroups/subtypes with particular clinico-molecular features. Using RNA sequencing (RNA-seq) in large, well-annotated cohorts of medulloblastoma, we show that transcriptionally group 3 and 4 medulloblastomas exist as intermediates on a bipolar continuum between archetypal entities. Continuum position prognostic, reflecting propensity for specific copy-number changes, switches isoform/enhancer usage editing. Examining...
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance autism spectrum disorders (ASDs). Potential genetic explanations include liability threshold model requiring increased polymorphism risk females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences hormonal milieu, influenced genes sex-differentially expressed early brain development, or contribution from general mechanisms of sexual shared with secondary sex...