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Institution

Emory University

EducationAtlanta, Georgia, United States
About: Emory University is a education organization based out in Atlanta, Georgia, United States. It is known for research contribution in the topics: Population & Poison control. The organization has 51959 authors who have published 122469 publications receiving 6010698 citations.


Papers
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Journal ArticleDOI
12 Sep 2013-Nature
TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.
Abstract: Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 × 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 × 10(-10) and P = 7.8 × 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P < 10(-8)), as has been reported previously for autism spectrum disorders.

1,254 citations

Journal ArticleDOI
TL;DR: Breast cancer and hormonal contraceptives: Collaborative reanalysis of individual data on 53297 women with breast cancer and 100239 women without breast cancer from 54 epidemiological studies as mentioned in this paper.

1,253 citations

Journal ArticleDOI
TL;DR: Although about half of patients with chronic forms of major depression have a response to short-term treatment with either nefazodone or a cognitive behavioral-analysis system of psychotherapy, the combination of the two is significantly more efficacious than either treatment alone.
Abstract: Background Patients with chronic forms of major depression are difficult to treat, and the relative efficacy of medications and psychotherapy is uncertain. Methods We randomly assigned 681 adults with a chronic nonpsychotic major depressive disorder to 12 weeks of outpatient treatment with nefazodone (maximal dose, 600 mg per day), the cognitive behavioral-analysis system of psychotherapy (16 to 20 sessions), or both. At base line, all patients had scores of at least 20 on the 24-item Hamilton Rating Scale for Depression (indicating clinically significant depression). Remission was defined as a score of 8 or less at weeks 10 and 12. For patients who did not have remission, a satisfactory response was defined as a reduction in the score by at least 50 percent from base line and a score of 15 or less. Raters were unaware of the patients' treatment assignments. Results Of the 681 patients, 662 attended at least one treatment session and were included in the analysis of response. The overall rate of response ...

1,251 citations

Journal ArticleDOI
TL;DR: Data will be reviewed using the acoustic startle reflex in rats and humans based on attempts to operationally define fear vs anxiety, finding that symptoms of clinical anxiety are better detected in sustained rather than phasic fear paradigms.

1,249 citations

Journal ArticleDOI
TL;DR: An international panel of experts prepared an evidenced-based guideline for vaccination of immunocompromised adults and children intended for use by primary care and subspecialty providers who care for immuno-compromised patients.
Abstract: An international panel of experts prepared an evidenced-based guideline for vaccination of immunocompromised adults and children. These guidelines are intended for use by primary care and subspecialty providers who care for immunocompromised patients. Evidence was often limited. Areas that warrant future investigation are highlighted.

1,245 citations


Authors

Showing all 52622 results

NameH-indexPapersCitations
Younan Xia216943175757
Eric J. Topol1931373151025
Bernard Rosner1901162147661
Paul G. Richardson1831533155912
Peter W.F. Wilson181680139852
Dennis S. Charney179802122408
Joseph Biederman1791012117440
Kenneth C. Anderson1781138126072
David A. Weitz1781038114182
Lei Jiang1702244135205
William J. Sandborn1621317108564
Stephen J. Elledge162406112878
Ali H. Mokdad156634160599
Michael Tomasello15579793361
Don W. Cleveland15244484737
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
2023195
20221,123
20218,692
20208,001
20197,033
20186,326