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84 results on '"Viali, P."'

1. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

Author

Li, Xihao, Chen, Han, Selvaraj, Margaret Sunitha, Van Buren, Eric, Zhou, Hufeng, Wang, Yuxuan, Sun, Ryan, McCaw, Zachary R., Yu, Zhi, Jiang, Min-Zhi, DiCorpo, Daniel, Gaynor, Sheila M., Dey, Rounak, Arnett, Donna K., Benjamin, Emelia J., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Carson, April P., Carlson, Jenna C., Chami, Nathalie, Chen, Yii-Der Ida, Curran, Joanne E., de Vries, Paul S., Fornage, Myriam, Franceschini, Nora, Freedman, Barry I., Gu, Charles, Heard-Costa, Nancy L., He, Jiang, Hou, Lifang, Hung, Yi-Jen, Irvin, Marguerite R., Kaplan, Robert C., Kardia, Sharon L. R., Kelly, Tanika N., Konigsberg, Iain, Kooperberg, Charles, Kral, Brian G., Li, Changwei, Li, Yun, Lin, Honghuang, Liu, Ching-Ti, Loos, Ruth J. F., Mahaney, Michael C., Martin, Lisa W., Mathias, Rasika A., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Naseri, Take, North, Kari E., Palmer, Nicholette D., Peyser, Patricia A., Psaty, Bruce M., Redline, Susan, Reiner, Alexander P., Rich, Stephen S., Sitlani, Colleen M., Smith, Jennifer A., Taylor, Kent D., Tiwari, Hemant K., Vasan, Ramachandran S., Viali, Satupa’itea, Wang, Zhe, Wessel, Jennifer, Yanek, Lisa R., Yu, Bing, Dupuis, Josée, Meigs, James B., Auer, Paul L., Raffield, Laura M., Manning, Alisa K., Rice, Kenneth M., Rotter, Jerome I., Peloso, Gina M., Natarajan, Pradeep, Li, Zilin, Liu, Zhonghua, and Lin, Xihong

Published
2025
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2. Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

Author

Keener, Rebecca, Chhetri, Surya B, Connelly, Carla J, Taub, Margaret A, Conomos, Matthew P, Weinstock, Joshua, Ni, Bohan, Strober, Benjamin, Aslibekyan, Stella, Auer, Paul L, Barwick, Lucas, Becker, Lewis C, Blangero, John, Bleecker, Eugene R, Brody, Jennifer A, Cade, Brian E, Celedon, Juan C, Chang, Yi-Cheng, Cupples, L Adrienne, Custer, Brian, Freedman, Barry I, Gladwin, Mark T, Heckbert, Susan R, Hou, Lifang, Irvin, Marguerite R, Isasi, Carmen R, Johnsen, Jill M, Kenny, Eimear E, Kooperberg, Charles, Minster, Ryan L, Naseri, Take, Viali, Satupa’itea, Nekhai, Sergei, Pankratz, Nathan, Peyser, Patricia A, Taylor, Kent D, Telen, Marilyn J, Wu, Baojun, Yanek, Lisa R, Yang, Ivana V, Albert, Christine, Arnett, Donna K, Ashley-Koch, Allison E, Barnes, Kathleen C, Bis, Joshua C, Blackwell, Thomas W, Boerwinkle, Eric, Burchard, Esteban G, Carson, April P, Chen, Zhanghua, Chen, Yii-Der Ida, Darbar, Dawood, de Andrade, Mariza, Ellinor, Patrick T, Fornage, Myriam, Gelb, Bruce D, Gilliland, Frank D, He, Jiang, Islam, Talat, Kaab, Stefan, Kardia, Sharon LR, Kelly, Shannon, Konkle, Barbara A, Kumar, Rajesh, Loos, Ruth JF, Martinez, Fernando D, McGarvey, Stephen T, Meyers, Deborah A, Mitchell, Braxton D, Montgomery, Courtney G, North, Kari E, Palmer, Nicholette D, Peralta, Juan M, Raby, Benjamin A, Redline, Susan, Rich, Stephen S, Roden, Dan, Rotter, Jerome I, Ruczinski, Ingo, Schwartz, David, Sciurba, Frank, Shoemaker, M Benjamin, Silverman, Edwin K, Sinner, Moritz F, Smith, Nicholas L, Smith, Albert V, Tiwari, Hemant K, Vasan, Ramachandran S, Weiss, Scott T, Williams, L Keoki, Zhang, Yingze, Ziv, Elad, Raffield, Laura M, Reiner, Alexander P, Arvanitis, Marios, Greider, Carol W, Mathias, Rasika A, and Battle, Alexis

Subjects
Biological Sciences, Genetics, Human Genome, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Generic health relevance, Humans, Genome-Wide Association Study, Telomere, K562 Cells, Telomere Homeostasis, Polymorphism, Single Nucleotide, Gene Expression Regulation, CRISPR-Cas Systems, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group
Abstract

Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry meta-analysis of 211,369 individuals and identified five novel association signals. Enrichment analyses of chromatin state and cell-type heritability suggested that blood/immune cells are the most relevant cell type to examine telomere length association signals. We validated specific GWAS associations by overexpressing KBTBD6 or POP5 and demonstrated that both lengthened telomeres. CRISPR/Cas9 deletion of the predicted causal regions in K562 blood cells reduced expression of these genes, demonstrating that these loci are related to transcriptional regulation of KBTBD6 and POP5. Our results demonstrate the utility of telomere length GWAS in the identification of telomere length regulation mechanisms and validate KBTBD6 and POP5 as genes affecting telomere length regulation.

Published
2024

3. Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

Author

Hawkes, Gareth, Beaumont, Robin N., Li, Zilin, Mandla, Ravi, Li, Xihao, Albert, Christine M., Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Boerwinkle, Eric, Brody, Jennifer A., Carson, April P., Chami, Nathalie, Chen, Yii-Der Ida, Chung, Mina K., Curran, Joanne E., Darbar, Dawood, Ellinor, Patrick T., Fornage, Myrian, Gordeuk, Victor R., Guo, Xiuqing, He, Jiang, Hwu, Chii-Min, Kalyani, Rita R., Kaplan, Robert, Kardia, Sharon L. R., Kooperberg, Charles, Loos, Ruth J. F., Lubitz, Steven A., Minster, Ryan L., Naseri, Take, Viali, Satupa’itea, Mitchell, Braxton D., Murabito, Joanne M., Palmer, Nicholette D., Psaty, Bruce M., Redline, Susan, Shoemaker, M. Benjamin, Silverman, Edwin K., Telen, Marilyn J., Weiss, Scott T., Yanek, Lisa R., Zhou, Hufeng, Liu, Ching-Ti, North, Kari E., Justice, Anne E., Locke, Jonathan M., Owens, Nick, Murray, Anna, Patel, Kashyap, Frayling, Timothy M., Wright, Caroline F., Wood, Andrew R., Lin, Xihong, Manning, Alisa, and Weedon, Michael N.

Published
2024
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4. 2023 World Heart Federation guidelines for the echocardiographic diagnosis of rheumatic heart disease

Author

Rwebembera, Joselyn, Marangou, James, Mwita, Julius Chacha, Mocumbi, Ana Olga, Mota, Cleonice, Okello, Emmy, Nascimento, Bruno, Thorup, Lene, Beaton, Andrea, Kado, Joseph, Kaethner, Alexander, Kumar, Raman Krishna, Lawrenson, John, Marijon, Eloi, Mirabel, Mariana, Nunes, Maria Carmo Pereira, Piñeiro, Daniel, Pinto, Fausto, Ralston, Kate, Sable, Craig, Sanyahumbi, Amy, Saxena, Anita, Sliwa, Karen, Steer, Andrew, Viali, Satupaitea, Wheaton, Gavin, Wilson, Nigel, Zühlke, Liesl, and Reményi, Bo

Published
2024
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5. Brazilian Research in Statistics, Probability, and Combinatorics Education: A Look at Theses

Author

Lori Viali, Magnus Cesar Ody, Clarissa Coragem Ballejo, and Elisabete Rambo Braga

Abstract

In this article, we first analyze the situation of statistics education in Brazil, within an international context of interest for this discipline. Secondly, we aim to answer the following research question: How has doctoral research in statistics, probability, and combinatorics education evolved in Brazil? For this purpose, we analyzed the Brazilian doctoral research production from 1994 to 2021. We identified 102 completed dissertations in doctoral programs over the last 28 years. Within this research context, we analyzed the graduate programs, advisors, research themes, grade levels and participants studied, theoretical frameworks, and the data analysis methodologies employed. Even though doctoral research has developed slowly and irregularly, there has been an increase in the number of studies, driven by the growth of graduate degrees offered in the last few years.

Published
2023
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6. Author Correction: 2023 World Heart Federation guidelines for the echocardiographic diagnosis of rheumatic heart disease

Author

Rwebembera, Joselyn, Marangou, James, Mwita, Julius Chacha, Mocumbi, Ana Olga, Mota, Cleonice, Okello, Emmy, Nascimento, Bruno, Thorup, Lene, Beaton, Andrea, Kado, Joseph, Kaethner, Alexander, Kumar, Raman Krishna, Lawrenson, John, Marijon, Eloi, Mirabel, Mariana, Nunes, Maria Carmo Pereira, Piñeiro, Daniel, Pinto, Fausto, Ralston, Kate, Sable, Craig, Sanyahumbi, Amy, Saxena, Anita, Sliwa, Karen, Steer, Andrew, Viali, Satupaitea, Wheaton, Gavin, Wilson, Nigel, Zühlke, Liesl, and Reményi, Bo

Published
2024
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9. Hypermedia System To Teach Statistics.

Author

Viali, Lori

Abstract

This paper provides a background of the development of hypermedia technology and describes a hypermedia system that could be used to teach probability and statistics through a web-based interface. (Contains 30 references.) (Author/WRM)

Published
1998

10. Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand

Author

Krishnan, Mohanraj, Major, Tanya J., Topless, Ruth K., Dewes, Ofa, Yu, Lennex, Thompson, John M. D., McCowan, Lesley, de Zoysa, Janak, Stamp, Lisa K., Dalbeth, Nicola, Harré Hindmarsh, Jennie, Rapana, Nuku, Deka, Ranjan, Eng, Winston W. H., Weeks, Daniel E., Minster, Ryan L., McGarvey, Stephen T., Viali, Satupa’itea, Naseri, Take, Sefuiva Reupena, Muagututi’a, Wilcox, Phillip, Grattan, David, Shepherd, Peter R., Shelling, Andrew N., Murphy, Rinki, and Merriman, Tony R.

Published
2018
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11. Clinical features, treatments, their impact, and quality of life for Myasthenia Gravis patients in Australia.

Author

Sansoni, Janet, Menon, Nidhi, Viali, Lachlan, White, Susan, and Vucic, Steve

Abstract

• Females and seronegative patients experience a greater burden of disease from MG. • Treatment side-effects are common, but the measurement scales need to be refined. • Those who had undergone a thymectomy reported a better quality of life. • Comparison to guidelines suggest treatments for crisis management may need review. This survey provides an update on the experience of Myasthenia Gravis (MG) patients in Australia. Items were drawn from the 2011 Australian Survey and a 2019 US survey allowing for comparative discussion of survey findings. Patients were recruited through the Myasthenia Alliance Australia. Following consent, patients completed an online survey using REDCap software. Questions included demographics, clinical features, treatment side-effects and quality of life (QOL) scales. Samples for completion of survey sections ranged from N = 242–280 representing a power level of over 80%. Female and seronegative patients reported a significantly greater symptom load, earlier disease onset, longer time to diagnosis, more MG exacerbations, treatment side-effects, and poorer QOL. For exacerbation management there was a higher rate of oral corticosteroid use (66%), a lower use of Intravenous Immunoglobulin (IVIg, 47%) and particularly, Therapeutic Plasma Exchange (TPE, 4.5%) within this sample. Although steroid induced side-effects were rarer (9–34%), a comparatively high use of corticosteroids was reported for current and overall treatments including those for MG crises (52–83%). Common treatment side-effects reported by 57–85% of patients, included fatigue, weight gain, a decrease in the ability to fight infections, gastrointestinal symptoms, and muscle weakness. The impact of MG on daily activities and QOL was considerable, but those who had a thymectomy reported better QOL. The survey identified areas for potential practice improvement in MG treatments (corticosteroids, IVIg, TPE), particularly for exacerbation management, and review is recommended. Further research on gender and antibody status differentials regarding clinical features is required. [ABSTRACT FROM AUTHOR]

Published
2023
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14. World Heart Federation criteria for echocardiographic diagnosis of rheumatic heart disease—an evidence-based guideline

Author

Reményi, Bo, Wilson, Nigel, Steer, Andrew, Ferreira, Beatriz, Kado, Joseph, Kumar, Krishna, Lawrenson, John, Maguire, Graeme, Marijon, Eloi, Mirabel, Mariana, Mocumbi, Ana Olga, Mota, Cleonice, Paar, John, Saxena, Anita, Scheel, Janet, Stirling, John, Viali, Satupaitea, Balekundri, Vijayalakshmi I., Wheaton, Gavin, Zühlke, Liesl, and Carapetis, Jonathan

Published
2012
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17. Characterization of sleep apnea among a sample of adults from Samoa

Author

Heinsberg, Lacey W., Pomer, Alysa, Cade, Brian E., Carlson, Jenna C., Naseri, Take, Reupena, Muagututia Sefuiva, Viali, Satupa'itea, Weeks, Daniel E., McGarvey, Stephen T., Redline, Susan, and Hawley, Nicola L.

Abstract

Sleep apnea is a global public health concern, but little research has examined this issue in low- and middle-income countries, including Samoa. The purpose of this study was to examine the sample prevalence and characteristics of sleep apnea using a validated home sleep apnea device (WatchPAT, Itamar) and explore factors that may influence sleep health in the Samoan setting. This study used data collected through the Soifua Manuia(“Good Health”) study, which investigated the impact of the body mass index (BMI)-associated genetic variant rs373863828 in CREBRFon metabolic traits in Samoan adults (sampled to overrepresent the obesity-risk allele of interest). A total of 330 participants had sleep data available. Participants (53.3 % female) had a mean (SD) age of 52.0 (9.9) years and BMI of 35.5 (7.5) kg/m2, and 36.3 % of the sample had type 2 diabetes. Based on the 3 % and 4 % apnea hypopnea indices (AHI) and the 4 % oxygen desaturation index (ODI), descriptive analyses revealed moderate to severe sleep apnea (defined as ≥15 events/hr) in 54.9 %, 31.5 %, and 34.5 % of the sample, respectively. Sleep apnea was more severe in men (e.g., AHI 3 % ≥15 in 61.7 % of men and 48.9 % of women). Correction for non-representational sampling related to the CREBRFobesity-risk allele resulted in only slightly lower estimates. Multiple linear regression linked a higher number of events/hr to higher age, male sex, higher BMI, higher abdominal-hip circumference ratio, and geographic region of residence. Further research and an increased focus on equitable and affordable diagnosis and access to treatment are crucial to addressing sleep apnea in Samoa and globally.

Published
2024
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18. Size selectivity of gill-nets and growth of roach Rutilus rutilus (Linnaeus, 1758) an alien species in Piediluco lake (Italy)

Author

Giannetto D., Carosi A., Ghetti L., Pompei L., Viali P., and Lorenzoni M.

Subjects
growth, gill-net selectivity, alien species, euthrophic lake, fisheries management, Aquaculture. Fisheries. Angling, SH1-691
Abstract

The analysis of catch selectivity of fishing equipment is a crucial step for the management of alien species in freshwater ecosystems. Roach Rutilus rutilus was introduced in many waterways in Italy often becoming the dominant species of the fish community and it is now considered potential pest. In Piediluco lake the species was first found in 2004 and its abundance has increased at a level that creates concern for the other fish species present in the lake. The growth of R. rutilus and the selectivity of gill-nets on its population were examined in Piediluco lake by analysing the selectivity of gill-nets of different mesh size. Sampling was conducted from January 2011 to October 2012 by means of gill-nets of different-sized mesh (8, 10, 12.5, 15.5, 19.5, 24, 28, 35, 45 and 55 mm). The results showed that R. rutilus in Piediluco lake had a growth faster and higher than in many other lake environments. The results of gill-nets selectivity gave important information to design a plan to control this species and confirmed that the use of suitable fishing techniques could be useful to manage the population of this alien species in Piediluco lake as well as in other similar environments.

Published
2014
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19. Growth of black bullhead Ameiurus melas (Rafinesque, 1820) in Corbara Reservoir (Umbria – Italy)

Author

Pedicillo G., Bicchi A., Angeli V., Carosi A., Viali P., and Lorenzoni M.

Subjects
age, growth, length-weight relationship, Lee’s phenomenon, relative weight, Aquaculture. Fisheries. Angling, SH1-691
Abstract

The age and growth of the invasive black bullhead Ameiurus melas (Rafinesque, 1820) were studied in the Corbara Reservoir, an artificial lake located on the River Tiber in central Italy. The results of the research revealed that the population was made up of eight cohorts, the oldest specimens being spawned in 1999. The sex ratio appears to be balanced, although females predominate in the younger cohorts, while the percentage of males increases among older specimens. The differences between sexes in the slope of the length-weight relationship were not statistically significant; the slope for the whole sample (b = 3.055) was significantly greater than 3, indicating an allometric growth pattern of the black bullhead. There were no significant differences in mean back-calculated lengths at age between the sexes. Analysis of Lee’s phenomenon revealed the existence of differential mortality among younger individuals (1 and 2 years old) that favours larger individuals. The Von Bertalanffy growth function was TLt = 35.69 {1 – exp[–0.18 (t + 0.27)]}. The specimens caught displayed mean relative weight (Wr) values distinctly below 100 at all ages, while no significant difference emerged between the sexes with regard to condition.

Published
2009
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21. La Carta ittica della Regione Umbria: bacino del fiume Tevere

Author

Lorenzoni, Massimo, Barocco, R., Cauzillo, C., Forconi, A., Franchi, E., Giannetto, D., LA PORTA, Gianandrea, Pedicillo, G., Pompei, Laura, Carosi, Antonella, Tardiolo, D., Viali, P., Ghetti, L., Sargenti, P., Dolciami, R., Natali, M., Bini, E., Bocale, M. C., Cassieri, S., Ciccarelli, E., Lancioni, T., Quondam, S., Todini, B., and Uzzoli, A.

Published
2015

22. La Carta ittica della Regione Umbria: bacino del fiume Nestore, bacini dei fiumi Paglia-Chiani

Author

Lorenzoni, Massimo, Franchi, E., Giannetto, Daniela, LA PORTA, Gianandrea, Pedicillo, Giovanni, Pompei, Laura, Carosi, Antonella, Tardiolo, D., Viali, P., Ghetti, Lucia, Sargenti, P., Dolciami, R., Natali, M., Barbagianni, N., Bartoli, D., Belardinelli, S., Bibi, E., Bocale, M. C., Bulletti, M., Burchia, A., Cassieri, S., Ciccarelli, E., Colabrese, D., Lancioni, T., Possanzini, F., Pugliese, A., Quondam, S., Ravastini, G., Romagnoli, M., Rocchi, F., and Tozzi, G.

Published
2013

26. Carta ittica Regionale: bacino del fiume Nera

Author

Lorenzoni, Massimo, Angeli, V., Annesanti, F., Bicchi, A., LA PORTA, Gianandrea, Pedicillo, Giovanni, Carosi, Antonella, Morelli, S., Tardiolo, D., Viali, P., Ghetti, Lucia, Sargenti, P., Natali, M., Dolciami, R., Galletti, R., Luigetti, C., Mezzetti, A., Moretti, O., Bartoli, D., and Quondam, S.

Published
2010

35. Carta Ittica Regionale. Bacino del Fiume Tevere

Author

Lorenzoni, Massimo, Pedicillo, Giovanni, Carosi, Antonella, Tardiolo, D, Viali, P, Baldini, G, Ghetti, L, Zeetti, A, Natali, M, BISCARO PARRINI, A, Dolciami, R, Mezzetti, A, Burchia, A, Brizio, M, Lancioni, Tisza, and Uzzoli, C.

Published
2007

37. Carta Ittica Regionale. Bacino del Fiume Paglia e Fiume Chiani

Author

Lorenzoni, Massimo, Lovascio, A, Morelli, O, Pedicillo, Giovanni, Carosi, Antonella, Tardiolo, D, Viali, P, Baldini, G, Ghetti, L, Zeetti, A, Natali, M, BISCARO PARRINI, A, Dolciami, R, Mezzetti, A, Anzini, L, and Ruco, P.

Published
2007

42. Carta Ittica Regionale. Bacino del Fiume Nera

Author

Lorenzoni, Massimo, Corboli, M., Pagano, L., Pedicillo, Giovanni, Carosi, Antonella, Morelli, S., Viali, P., Baldini, G., Ghetti, L., Zeetti, A., Natali, M., Biscaro Parrini, A., Dolciami, R., Mezzetti, A., Andreani, M., Burchia, A., Cassieri, S., De Luca, M., Mossone, M., Quondam Luigi, S., Uzzoli, C., Anziani, L., and Cocchi, M.

Published
2004

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