• Publications
  • Influence
Temperature and mortality in 11 cities of the eastern United States.
Episodes of extremely hot or cold temperatures are associated with increased mortality. Time-series analyses show an association between temperature and mortality across a range of less extremeExpand
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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasiaExpand
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Response Inhibition and ADHD Traits: Correlates and Heritability in a Community Sample
Endophenotypes or intermediate phenotypes are of great interest in neuropsychiatric genetics because of their potential for facilitating gene discovery. We evaluated response inhibition, latency andExpand
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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
Variants associated with meconium ileus in cystic fibrosis were identified in 3,763 affected individuals by genome-wide association study (GWAS). Five SNPs at two loci near SLC6A14 at Xq23-24Expand
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Genetic Modifiers of Cystic Fibrosis–Related Diabetes
Diabetes is a common age-dependent complication of cystic fibrosis (CF) that is strongly influenced by modifier genes. We conducted a genome-wide association study in 3,059 individuals with CF (644Expand
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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10−8)Expand
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Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define theExpand
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Sex differences in habitual physical activity and lung function decline in children with cystic fibrosis.
OBJECTIVES To evaluate the feasibility of measuring habitual physical activity (HPA) in children with cystic fibrosis (CF) and to assess the relation between HPA and the rate of decline in FEV1 overExpand
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Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis
The identification of small molecules that target specific CFTR variants has ushered in a new era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will requireExpand
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High Risk of Reading Disability and Speech Sound Disorder in Rolandic Epilepsy Families: Case–Control Study
Purpose: Associations between rolandic epilepsy (RE) with reading disability (RD) and speech sound disorder (SSD) have not been tested in a controlled study. We conducted a case–control study toExpand
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