Grace Schwartz
A5072958528- Autism Spectrum Disorder Research
- Single-cell and spatial transcriptomics
- Genomics and Rare Diseases
- Cell Image Analysis Techniques
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Infant Health and Development
- Sexual Differentiation and Disorders
- RNA modifications and cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Neuroendocrine regulation and behavior
- Zebrafish Biomedical Research Applications
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Advanced Vision and Imaging
- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Renal and related cancers
- RNA and protein synthesis mechanisms
- Stress Responses and Cortisol
- Evolutionary Psychology and Human Behavior
- Animal Genetics and Reproduction
University of Southern California
2024
Northwestern University
2021-2023
Lurie Children's Hospital
2021-2023
University of California, San Francisco
2017-2021
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which translated proteins. “coding genome” describes the that contains information to make these proteins and represents ~1.5% human genome. Newly arising de novo mutations (variants observed in a child but not either parent) coding genome contribute numerous childhood developmental disorders, including autism spectrum disorder (ASD). Discovery effects aided by triplet code enables functional impact many be readily...
Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies disruptive variants in individuals ascertained for severe neurodevelopmental delay, while 53 ASD; comparing ASD cases mutations groups reveals phenotypic differences....
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies disruptive variants in individuals ascertained for severe neurodevelopmental delay, while 53 ASD; comparing ASD cases mutations groups reveals phenotypic differences....
3D imaging data necessitate reference atlases for accurate quantitative interpretation. Existing computational methods to generate from 2D-derived result in extensive artifacts, while manual curation approaches are labor-intensive. We present a approach atlas construction that substantially reduces artifacts by identifying anatomical boundaries the underlying and using these guide transformation. Anatomical also allow extension of complete edge regions. Applying eight developmental stages...
Abstract Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting are known contribute these disorders, clinical interpretation of cryptic splice outside the canonical site has been challenging. Here, we discuss papers that improve such detection.
Summary Genomic studies to date in autism spectrum disorder (ASD) have largely focused on newly arising mutations that disrupt protein coding sequence and strongly influence risk. We evaluate the contribution of noncoding regulatory variation across size frequency through whole genome sequencing 519 ASD cases, their unaffected sibling controls, parents. Cases carry a small excess de novo (1.02-fold) variants, which is not significant after correcting for paternal age. Assessing 51,801...
ABSTRACT The hypothalamic neuropeptide oxytocin (OT) influences both food intake and social behavior. Given that preference consumption are heavily affected by factors in mammals, it is critical to understand the extent OT’s role regulating these two fundamental behaviors interconnected. Here we evaluated of OT signaling dentate gyrus dorsal hippocampus (HPCd), a brain region recently linked with eating memory, on rats under conditions vary regards presence conspecific familiarity. Results...
Complete Androgen Insensitivity Syndrome (CAIS) is a difference of sex development (DSD) caused by loss function the androgen receptor (AR) gene. Patients typically identify as female and have 46,XY karyotype. Two induced pluripotent stem cell lines (iPSCs), LCHi001-A LCHi001-B, were generated from participant with CAIS AR mutation: c.2698A>T (p.Ile900Phe). Both presented typical morphology, expressed markers, differentiated into three germ layers, had normal karyotype, mycoplasma-free,...
Abstract 3D imaging data necessitate reference atlases for accurate quantitative interpretation. Existing computational methods to generate from 2D-derived result in extensive artifacts, while manual curation approaches are labor-intensive. We present a approach atlas construction that substantially reduces artifacts by identifying anatomical boundaries the underlying and using these guide transformation. Anatomical also allow extension of complete edge regions. Applying eight developmental...
The nuclear receptor subfamily 5, Group A, Member 1 (NR5A1) gene encodes steroidogenic factor (SF1), which is necessary for development of steroid hormone-producing tissues including the gonad and adrenal gland. An induced pluripotent stem cell line (iPSC) LCHi002-B was generated from a participant with differences (disorders) sex (DSD) multiple genetic variants large deletion in NR5A1, three single nucleotide changes DYNC2H1, PDE4D, ZFPM2. presented typical morphology, expressed markers,...