A5089015366- Economic and Environmental Valuation
- Water resources management and optimization
- Child Nutrition and Water Access
- Decision-Making and Behavioral Economics
- Housing Market and Economics
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Environmental Education and Sustainability
- Vibrio bacteria research studies
- Poverty, Education, and Child Welfare
- Genomic variations and chromosomal abnormalities
- COVID-19 epidemiological studies
- Health Systems, Economic Evaluations, Quality of Life
- Water-Energy-Food Nexus Studies
- Epilepsy research and treatment
- Water Governance and Infrastructure
- Agricultural risk and resilience
- Experimental Behavioral Economics Studies
- Salmonella and Campylobacter epidemiology
- Auction Theory and Applications
- Vaccine Coverage and Hesitancy
- Viral gastroenteritis research and epidemiology
- Metabolism and Genetic Disorders
- Urban and Rural Development Challenges
- Urban Transport and Accessibility
Washington State University
2017-2023
Partnership for Economic Policy
2023
Her Majesty's Revenue and Customs
2023
University of Washington
2008-2017
Seattle University
2010-2015
Seattle Children's Hospital
2012-2015
University College London
2015
Lurie Children's Hospital
2015
Graz University Hospital
2015
Northwestern University
2015
To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing.We performed whole-exome sequencing 13 SCN1A-negative with and targeted resequencing 67 additional to identify new for this disorder.We detected disease-causing mutations 2 novel syndrome, GABRA1 4 cases STXBP1 3. Furthermore, we identified 3 previously undetected mutations, suggesting that occur even more than currently accepted ∼ 75% of cases.We show make a significant...
Abstract Objective: Rare copy number variants (CNVs)—deletions and duplications—have recently been established as important risk factors for both generalized focal epilepsies. A systematic assessment of the role CNVs in epileptic encephalopathies, most devastating often etiologically obscure group epilepsies, has not performed. Methods: We evaluated 315 patients with encephalopathies characterized by epilepsy progressive cognitive impairment rare using a high‐density, exon‐focused,...
Abstract Kabuki syndrome is a rare, multiple malformation disorder characterized by distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of reported with syndrome, but parent‐to‐child transmission in more than half‐dozen instances indicates that it an autosomal dominant disorder. We recently caused mutations MLL2 , gene encodes Trithorax‐group histone methyltransferase, protein...
Regulation and political opposition often force water utilities to rely on nonprice approaches manage demand. Using randomized field experiments in three different utilities, we assess the effectiveness of social comparisons reduce demand analyze their interaction with existing conservation programs. In two program decreases consumption by 5%, significant heterogeneity across distribution baseline use. We do not detect a statistically average treatment effect third utility. Social norms...
Abstract As the disease burden of poor access to water and sanitation declines around world, nonhealth benefits––mainly time collection – will likely grow in importance sector funding decisions investment analyses. We measure coping costs incurred by households one area rural Kenya. Sixty percent 387 interviewed were collecting outside home, household members spending an average 2–3 h doing so per day. value these using individual‐level travel estimate based on a stated preference...
We examine the effect of giving respondents time to think about their stated choices (SC) in a survey cholera and typhoid vaccine preferences Hue, Vietnam. Because neither is widely available Vietnam, we used SC approach (a preference technique) gave half our overnight make hypothetical valuation scenario as similar real‐life choice situation possible. Respondents who were given extra made fewer that violated internal validity tests utility theory, had lower average willingness pay (WTP),...
Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 had detailed breakpoint analysis.To further delineate the features of syndrome, clinical molecular characterisation fifteen with deletions in region was performed, nearly doubling number reported patients.Breakpoints were using custom, high-density array comparative...
Valuing changes in time use is often a critical element of economic analyses development projects. In this paper we review the literature on monetary value low- and middle-income countries find support for commonly used benchmark 50% after-tax wages activities informal sector, such as collecting water or traveling to health clinics. We offer recommendations analysts who are conducting benefit-cost these settings about what methods they can estimate time. These include benefits transfer...
Although it is well known that vaccines against many infectious diseases confer positive economic externalities via indirect protection, analysts have typically ignored possible herd protection effects in policy analyses of vaccination programs. Despite a growing literature on the theory vaccine and several innovative mathematical modeling approaches, there been almost no empirical applications. The first objective paper to develop transparent, accessible framework for assessing private...
To investigate the role of intragenic deletions ALDH7A1 in patients with clinical and biochemical evidence pyridoxine-dependent epilepsy but only a single identifiable mutation ALDH7A1.We designed custom oligonucleotide array high-density probe coverage across gene. We performed comparative genomic hybridization 6 detectable by sequence analysis.We found partial 5 patients. Breakpoint analysis reveals that are likely result Alu-Alu recombination all cases. The density Alu elements within...
We examine risk preferences in an urban setting a low-income developing country with nonstudent subjects by adapting the experimental approach of Holt and Laury (HL; 2002 Holt, C. Laury, S. 2002. Risk aversion incentive effects. The American Economic Review, 92: 1644–55. [Crossref], [Web Science ®] , [Google Scholar]). conducted 22 group experiments 404 participants used in-kind payoffs. average respondent was 'risk-averse' (the midpoint Constant Relative Aversion (CRRA) intervals among...
Abstract A cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine‐dependent epilepsy (PDE), an organic aciduria, which due to recessive mutations the ALDH7A1 gene, resulting deficiency antiquitin. Since discovery molecular basis this disorder, a few patients have been reported with similar clinical phenotype but without evidence antiqutin dysfunction. We report on patient who had carried diagnosis PDE for 7 years, was than shown normal...
Summary Fever‐associated syndromic epilepsies ranging from febrile seizures plus ( FS +) to Dravet syndrome have a significant genetic component. However, apart SCN 1A mutations in >80% of patients with syndrome, the underpinnings these remain largely unknown. Therefore, we performed genome‐wide screening for copy number variations CNV s) 36 ‐negative fever‐associated epilepsies. Phenotypes included (n = 23; 64%), epilepsy (GEFS+) and (FS+) 11; 31%) unclassified 2; 6%). Array comparative...
Abstract This study investigates the effects of ‘time to think’ and ‘ballot box’ on willingness-to-pay, while providing first empirical evidence assessing benefits an air quality improvement program in urban Africa. Our hypothetical referendum scenario proposes reduce pollution related morbidity rate Douala, Cameroon by 25 per cent exchange for a one-time surcharge electricity bill each respondent. We find that average WTP decreases nearly one-fourth when allocating respondents time think...
Despite its importance in benefit-cost analyses the water supply, transportation, and health care sectors, there are relatively few empirical estimates of value travel time savings (VTT) low-income countries, particularly rural areas. Analysts instead often rely on a textbook “rule thumb” valuing at 50% prevailing unskilled wage rates, though these benchmarks have little support settings. We estimate through use repeated discrete choice stated preference exercise. asked 325 households Meru...