Renee D. George
A5021311184- Sperm and Testicular Function
- Genomics and Rare Diseases
- Hormonal and reproductive studies
- Urologic and reproductive health conditions
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Genetic Neurodegenerative Diseases
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Renal and related cancers
- Gene expression and cancer classification
- Global Cancer Incidence and Screening
- Fetal and Pediatric Neurological Disorders
- Mitochondrial Function and Pathology
- Genomics and Chromatin Dynamics
- Reproductive Biology and Fertility
- Plant Reproductive Biology
- Machine Learning in Healthcare
- Economic and Financial Impacts of Cancer
- Chromatin Remodeling and Cancer
- Insect and Arachnid Ecology and Behavior
- Advanced Neuroimaging Techniques and Applications
University of California, San Diego
2017-2025
Children’s Institute
2017-2025
Ronin Institute
2023-2024
Howard Hughes Medical Institute
2017-2020
Christian Medical College & Hospital
2020
Whitehead Institute for Biomedical Research
2014
University of Washington
2008-2013
Glenn Research Center
2011
The University of Queensland
2008
Seattle University
2008
Comparison of protein-coding DNA sequences from diverse primates can provide insight into these species' evolutionary history and uncover the molecular basis for their phenotypic differences. Currently, number available primate reference genomes limits genome-wide comparisons. Here we use targeted capture methods designed human to sequence regions, or exomes, four non-human species (three Old World monkeys one New monkey). Despite average divergence up 4% probes, are able ∼96% coding...
Synaptic activity in neurons leads to the rapid activation of genes involved mammalian behavior. ATP-dependent chromatin remodelers such as BAF complex contribute these responses and are generally thought activate transcription. However, mechanisms keeping “early activation” silent have been a mystery. In course investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations neuronal (nBAF) subunit ACTL6B (originally named BAF53b )....
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss
SUMMARY Interactions between sperm and egg proteins can occur physically gamete surface‐binding proteins, genetically that work in complementary pathways which they may not interact. Physically interacting sperm–egg have been functionally identified only a few species, none verified within mammals. Candidate genes on both the surfaces exist, but gene deletion studies do support functional interactions these proteins; thus remain elusive. Cooperative undergo rapid evolution, it is predicted...
Focal cortical dysplasia type III (FCDIII) is a rare and complex condition associated with drug-resistant epilepsy often characterized by lamination abnormalities, along variety of neoplasms vascular abnormalities. Objectives: This study aimed to elucidate the genetic architecture underlying FCDIII through use whole-exome sequencing (WES) brain peripheral blood samples from 19 patients who had been diagnosed FCDIII. Methods: Variants were identified series machine-learning-based detection...
Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). acts as a central regulator important physiological cellular functions such growth proliferation, metabolism, autophagy, death, survival. This study was aimed at identifying specific variants signaling genes patients diagnosed HME. Methods Using amplicon whole exome sequencing (WES) resected brain paired blood samples...
Understanding the genetic basis of reproductive isolation promises insight into speciation and origins biological diversity. While progress has been made in identifying genes underlying barriers to reproduction that function after fertilization (post-zygotic isolation), we know much less about earlier acting pre-zygotic barriers. Of particular interest are involved mating can evolve extremely rapidly under sexual selection, suggesting they may play a prominent role initial stages isolation....
Genomic data from various organisms have been used to study how sexual selection has shaped genetic diversity in reproductive proteins, and particular, elucidate mating systems may influenced evolution at the molecular phenotypic levels. However, large-scale proteomic including protein identifications abundances are only now entering field of evolutionary comparative genomics. Variation both sequence expression level play important roles traits behaviors.Here, we broadly analyze components...
In diagnosis of rare genetic diseases we face a decision as to the degree which sequencing lab offers one or more diagnoses based on clinical input provided by clinician, clinician reaches complete set variants lab. We tested software approach assist in making findings and an annotated genomic variant table, using cases already solved less automated processes.For 81 studied (involving 216 individuals), 70 had abnormalities with phenotypes previously described literature, 11 were not...
Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 DSH, two whom had compound also describe the novel genetic our cases review literature on association ADAR1-related DSH these phenotypes.
e13571 Background: Clinical trials report average effects of treatments at a population level. However, clinicians must balance treatment benefits against risks to personalize therapy. Here, we present statistical framework which incorporates real-world data estimate efficacy and symptom burden for an individual patient. We then assess the potential impact continuing immunotherapy beyond progression in patients with metastatic solid malignancies on immune-related adverse events, progression,...
Cancer patients often experience treatment-related symptoms which, if uncontrolled, may require emergency department admission. We developed models identifying breast or genitourinary cancer at the risk of attending (ED) within 30-days and demonstrated development, validation, proactive approach to in-production monitoring an artificial intelligence-based predictive model during a 3-month simulated deployment hospital in United States.We used routinely-collected electronic health record data...
The causes for thousands of individually rare recessive diseases have been discovered since the adoption next generation sequencing (NGS). Following molecular diagnosis in older children a family, parents could use this information to opt fetal genotyping subsequent pregnancies, which inform decisions about elective termination pregnancy. NGS diagnostic families has not demonstrated yield benefit pregnancies reduce recurrence. Here we evaluated whether genetic supports reduction recurrence...
Summary De novo genetic mutations represent a major contributor to pediatric disease, including autism spectrum disorders (ASD), congenital heart and muscular dystrophies 1,2 , but there are currently no methods prevent or predict them. These classically thought occur either at low levels in progenitor cells the time of fertilization 1,3 often assigned risk recurrence siblings 4,5 . Here, we directly assess presence de paternal sperm discover abundant, germline-restricted mosaicism. From...
Introductory paragraph Mosaic variants (MVs) reflect mutagenic processes during embryonic development 1 and environmental exposure 2 , accumulate with aging, underlie diseases such as cancer autism 3 . The detection of MVs has been computationally challenging due to sparse representation in non-clonally expanded tissues. While heuristic filters tools trained on clonally high allelic fractions are proposed, they show relatively lower sensitivity more false discoveries 4–9 Here we present...
Summary Every newborn harbors scores of new single nucleotide variants (SNVs) that may impact health and disease 1–4 ; the majority these are contributed by paternal germ cells 5 . In some cases, mutations identifiable in a subset parents’ cells—a phenomenon called mosaicism, which is capable producing recurrence 6–8 Here, we provide comprehensive analysis male gonadal mosaic mutations, employing 300× whole genome sequencing (WGS) blood sperm 17 healthy individuals, including assessment...