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2. Why Can't We Be Friends? Using Music to Teach Social Justice

Author

Levy, Denise L. and Byrd, Daniel C.

Abstract

Listening to music is an emotional and educational experience that has the potential to shape an individual's values, actions, and worldview. Widely used in elementary education, music can also be a fresh, innovative teaching tool in higher education. Although it can be applied to virtually any subject area, critical reflection and discussion of music can especially complement courses related to the concept of social justice. This paper provides a review of the literature on using music to teach justice-related concepts, an illustration of ways in which the authors have utilized music in their own courses, and conclusions for educators.

Published
2011

3. Teaching Note--Challenges in the Classroom on LGBTQ Topics and Christianity in Social Work

Author

Dessel, Adrienne, Levy, Denise L., Lewis, Terrence O., McCarty-Caplan, David, Jacobsen, Jeanna, and Kaplan, Laura

Abstract

This article provides guidance in facilitating the development of culturally sensitive skills for working with lesbian, gay, bisexual, transgender, and queer (LGBTQ) populations that take into account power and privilege. Social work faculty and students have an ethical obligation to be competent and aware of privilege. When working with LGBTQ populations, this means addressing personal and social values and beliefs about gender and sexuality. Faculty may not feel prepared to address the influence of Christianity, the dominant religion in the United States, on social forces affecting LGBTQ populations and on social workers' religious feelings when working with these individuals. This article describes pedagogical techniques and provides guidance for developing faculty and student competence and awareness when working with LGBTQ populations.

Published
2019
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4. LGBTQ + people seeking a faith community home: Implications for social workers and allied helping professionals.

Author

Gandy, Megan E., Levy, Denise L., and Natale, Anthony P.

Subjects
*RELIGIOUS communities, *RELIGIOUS adherents, *ROLE models, *SOCIAL impact, *LGBTQ+ people
Abstract

LGBTQ + people experience protective benefits from faith community participation, although some also experience minority stress from rejection and discrimination. Social workers, counselors, psychologists, nurse practitioners, and others can assist LGBTQ + people in looking for a faith community that fits their needs and desires. This study reveals how LGBTQ + people in this sample, most of whom identify as Christians, decided to attend their current faith community through an analysis methodology called Sort and Sift Think and Shift. Four contrasting themes were identified: welcoming versus inclusive, racial/ethnic versus LGBTQ+, inward versus outward, and role modeling versus blending. The authors explore the implications of these themes for helping professionals. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Author

Pena, Loren D.M., Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel S.G., del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Bostwick, Bret L., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Azamian, Mashid S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Zhang, Jing, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Jiang, Yong-hui, Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Daniel C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Urv, Tiina K., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matthew T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell'Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Dorrani, Naghmeh, Douine, Emilie D., Eskin, Ascia, Fogel, Brent L., Herzog, Matthew R., Lee, Hane, Lipson, Allen, Loo, Sandra K., Martínez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Zheng, Allison, Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorfer, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Gropman, Andrea L., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Cogan, Joy D., Hamid, Rizwan, Newman, John H., Phillips, John A., III, and Robertson, Amy K.

Published
2018
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7. Nuclear Science and Society: Social Inclusion through Scientific Education

Author

Levy, Denise S.

Abstract

This article presents a web-based educational project focused on the potential value of Information and Communication Technology to enhance communication and education on nuclear science throughout Brazil. The project is designed to provide trustworthy information about the beneficial uses of nuclear technology, educating children and teenagers, as well as their parents and teachers, demystifying paradigms and combating misinformation. Making use of a range of interactive activities, the website presents short courses and curiosities, with different themes that comprise the several aspects of the beneficial applications of nuclear science. The intention of the many interactive activities is to encourage research and to enhance learning opportunities through a self-learning universe where the target public is introduced to the basic concepts of nuclear physics, such as nuclides and isotopes, atomic interactions, radioactive decay, biological effects of radiation, nuclear fusion, nuclear fission, nuclear reactors, nuclear medicine, radioactive dating methods and natural occurring radiation, among other ideas and concepts in nuclear physics. Democratization of scientific education can inspire new thoughts, stimulate development and encourage scientific and technological researches.

Published
2017
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9. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Author

Adams, Christopher J., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorfer, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zornio, Patricia A., Wang, Julia, Al-Ouran, Rami, Hu, Yanhui, Kim, Seon-Young, Wan, Ying-Wooi, Chao, Hsiao-Tuan, Comjean, Aram, Mohr, Stephanie E., Perrimon, Norbert, and Liu, Zhandong

Published
2017
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12. Livro de Resumos RADIO 2023

Author

Ferreira Filho, Alfredo, primary, Dantas, Bernardo, additional, Levy, Denise, additional, Lima, Fernando, additional, and Neves, Luís, additional

Published
2023
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15. O Museu de Ciências Nucleares como um espaço interativo para desmistificação das ciências nucleares

Author

Oliveira, Bruna de, Aquino, Kátia Aparecida da Silva, Levy, Denise Sahyun, and Khoury, Helen Jamil

Subjects
Museums of science and technology, Radioactivity, Meaningful learning, Competencies and abilities, Museus de ciência e tecnologia, Radioatividade, Competências e habilidades, Aprendizagem significativa
Abstract

This paper presents the educational potential of the Nuclear Science Museum (NSM) located at the Federal University of Pernambuco, the first museum about Nuclear Sciences in Latin America and the only one in Brazil fully dedicated to radioactivity and its beneficial applications. Its also presents a study about the your role as a facilitating space for new knowledge construction as well as the development of integrated competences and skills for students in Elementary. In this sense, the NSM provides an interactive and meaningful learning of nuclear science, articulating scientific information to social reality, playing an important role in the knowledge reconstruction process, demystifying unfounded prejudices and fears, and promoting a critical thinking about radioactivity. In addition, the visit to the NSM provides the reconstructive questioning about risks and benefits of radioactivity, which allows the students to make ethical and citizen decisions, with a wider perception founded on scientifically based information., O presente artigo discute o potencial educacional do Museu de Ciências Nucleares (MCN) localizado na Universidade Federal de Pernambuco, primeiro museu de Ciências Nucleares da América Latina e o único no Brasil inteiramente dedicado ao tema da radioatividade e suas aplicações benéficas. Também apresenta apontamentos sobre o museu enquanto espaço facilitador para a produção de novos saberes e desenvolvimento de competências e habilidades para a educação básica. Nesta direção, o MCN proporciona uma aprendizagem interativa e significativa da Ciência Nuclear, articulando a informação científica à realidade social, possuindo um grande papel no processo de reconstrução do conhecimento, desmistificando mitos e medos infundados, promovendo um senso crítico e reflexivo acerca da radioatividade. Além disso, a visita ao MCN proporciona o questionamento reconstrutivo sobre riscos e benefícios da radioatividade que oportuniza aos envolvidos a tomarem decisões éticas e cidadãs a respeito do tema com uma visão mais ampliada e cientificamente embasada.

Published
2022
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24. Religious and spiritual journeys of LGBT older adults in rural Southern Appalachia.

Author

Dakin, Emily, Levy, Denise L, and Williams, Kelly A

Subjects
*OLDER people, *RELIGIOUS articles, *RELIGIOUS experience, *SPIRITUALITY, *ADULTS, *PARTICIPATION, *STRENGTH training
Abstract

This article reports on religious and spiritual experiences of 11 lesbian, gay, bisexual, and/or trans*-identified (LGBT) older adults in rural southern Appalachia. Template analysis of interview data yielded themes including: harmful experiences with Christianity in childhood and adulthood, religion and spirituality as sources of support, current participation in supportive Christian churches, and personalized approaches to spirituality and religion. Despite prior harmful experiences in some cases, religion and spirituality now provided meaning, strength, and support for most of the participants. The article concludes with implications for theory, research, and professional practice for clergy, social workers and other helping professionals. [ABSTRACT FROM AUTHOR]

Published
2022
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29. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author

Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Strom, Samuel P., Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Szelinger, Szabolcs, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Mashid, Azamian S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Scott, Daryl A., Tran, Alyssa A., Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Stong, Nicholas, Jiang, Yong-hui, McConkie-Rosell, Allyn, Pena, Loren D.M., Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Sullivan, Jennifer A., Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Dan C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Loomis, Carson R., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matt T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell’Angelica, Esteban C., Dipple, Katrina M., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Sinsheimer, Janet S., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary “Gracie” G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorder, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Hamid, Rizwan, Newman, John H., Phillips, John A., III, Robertson, Amy K., Cogan, Joy D., Meng, Linyan, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Xiao, Rui, Martinez-Agosto, Julian A., and Lupski, James R.

Published
2017
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30. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Author

Adams, David R., Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernick, David, Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brownstein, Catherine A., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eastwood, Rachel, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary “Gracie” G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Iglesias, Brenda, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Martin, Casey, Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, and Zornio, Patricia A.

Published
2017
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31. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Author

Adams, David R., Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Dan C., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary “Gracie” G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Mashid, Azamian S., Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Rodan, Lance H., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tift, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matt T., Wise, Anastasia L., Worthe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zornio, Patricia A., Chao, Hsiao-Tuan, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., Davis, Taylor, Wolfe, Lynne, Tifft, Cynthia, Xia, Fan, Johnson, Travis K., and Warr, Coral G.

Published
2017
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33. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Author

Bacino, A., Lee, Brendan H., Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Jain, Mahim, Lalani, Seema R., Lewis, Richard A., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Scott, Daryl A., Hanchard, Neil A., Alyssa, Tran A., Mercedes, Alejandro E., Mashid, Azamian S., Bellen, Hugo J., Yamamoto, Shinya, Wangler, Michael F., Westerfield, Monte, Postlethwait, John H., Eng, Christine M., Yang, Yaping, Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Kohane, Issac S., Holm, Ingrid A., Might, Matthew, Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Shashi, Vandana, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Sullivan, Jennifer A., Walley, Nicole M., Goldstein, David B., Stong, Nicholas, Beggs, Alan H., Loscalzo, Joseph, MacRae, Calum A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Maas, Richard L., Krier, Joel B., Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Pallais, Juan C., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Briere, Lauren C., Jacob, Howard J., Worthey, Elizabeth A., Lazar, Joe, Strong, Kim A., Handley, Lori H., Newberry, J. Scott, Bick, David P., Schroeder, Molly C., Brown, Donna M., Birch, Camille L., Levy, Shawn E., Boone, Braden E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Mulvihill, John J., Wise, Anastasia L., Dayal, Jyoti G., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Mamounas, Laura A., Iglesias, Brenda, Martin, Casey, Koeller, David M., Metz, Thomas O., Ashley, Euan A., Fisher, Paul G., Bernstein, Jonathan A., Wheeler, Matt T., Zornio, Patricia A., Waggott, Daryl M., Dries, Annika M., Kohler, Jennefer N., Dipple, Katrina M., Nelson, Stan F., Palmer, Christina G.S., Vilain, Eric, Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Sinsheimer, Janet S., Papp, Jeanette C., Dorrani, Naghmeh, Herzog, Matthew R., Barseghyan, Hayk, Adams, David R., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, Chyau Yueh C., Lee, Paul R., Levy, Denise J., Liebendorder, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Wolfe, Lynne A., Yu, Guoyun, Hamid, Rizwan, Newman, John H., Phillips, John A., Cogan, Joy D., Kim, Katherine, Burton, Barbara, Hempel, Maja, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., and Kortüm, Fanny

Published
2016
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35. Teachers’ multidimensional role towards meaningful learning: the potential value of interdisciplinary environments

Author

Levy, Denise, Peralta, Telma Martins, Pozzi, Loreny, de Tovar, Izi Pozzi, Levy, Denise, Peralta, Telma Martins, Pozzi, Loreny, and de Tovar, Izi Pozzi

Abstract

The definition of “interdisciplinary learning environment” gives rise to different interpretations. This article presents and discusses interdisciplinarity in pedagogical practice for the construction of meaningful learning, strengthening the construction of knowledge in personal, scientific and social spheres. Case studies respectively show: the contribution of interdisciplinary work to self-identity and subjective constitution in early childhood; interdisciplinary work in an informal learning environment as a facilitating element towards scientific knowledge consolidation; and the university’s interdisciplinary work in social projects for building a fairer society. In the light of neuroscience, the article discusses aspects of cognitive and social-emotional developments, as well as the approximations and estrangements between the object of study and the epistemic subject. In the so-called Society of Information, the multidimensional character of the teacher’s work becomes a necessity and a challenge, since it is the school’s role to form citizen-students, developing competences to increase students´ academic knowledge and extend it to their personal, professional and social lives.

Published
2018

36. Web-Based Tools to Increase Public Understanding of Nuclear Technology and Food Irradiation

Author

Levy, Denise and Villavicencio, Anna Lucia C. H.

Subjects
Food irradiation, multimedia learning tools, nuclear science, society and education
Abstract

Food irradiation is a processing and preservation technique to eliminate insects and parasites and reduce disease-causing microorganisms. Moreover, the process helps to inhibit sprouting and delay ripening, extending fresh fruits and vegetables shelf-life. Nevertheless, most Brazilian consumers seem to misunderstand the difference between irradiated food and radioactive food and the general public has major concerns about the negative health effects and environmental contamination. Society´s judgment and decision making are directly linked to perceived benefits and risks. The web-based project entitled ‘Scientific information about food irradiation: Internet as a tool to approach science and society’ was created by the Nuclear and Energetic Research Institute (IPEN), in order to offer an interdisciplinary approach to science education, integrating economic, ethical, social and political aspects of food irradiation. This project takes into account that, misinformation and unfounded preconceived ideas impact heavily on the acceptance of irradiated food and purchase intention by the Brazilian consumer. Taking advantage of the potential value of the Internet to enhance communication and education among general public, a research study was carried out regarding the possibilities and trends of Information and Communication Technologies among the Brazilian population. The content includes concepts, definitions and Frequently Asked Questions (FAQ) about processes, safety, advantages, limitations and the possibilities of food irradiation, including health issues, as well as its impacts on the environment. The project counts on eight self-instructional interactive web courses, situating scientific content in relevant social contexts in order to encourage self-learning and further reflections. Communication is a must to improve public understanding of science. The use of information technology for quality scientific divulgation shall contribute greatly to provide information throughout the country, spreading information to as many people as possible, minimizing geographic distances and stimulating communication and development., {"references":["C. G. Martins. \"Efeitos da radiação gama na microbiota, no teor de vitamina C de agrião (Nasturtium officinale) orgânico minimamente processado e na aceitação e intenção de compra do produto irradiado\", Doctoral Dissertation, Universidade de São Paulo, 2008.","J. H. Behrens; M.N. Barcellos; L. J.; T. P. Nunes; M. Landgraf. \"Brazilian consumer views on food irradiation\" in Innovative Food Science & Emerging Technologies\", Elsevier, 2009.","I. S. Arvanitoyannis, \"Irradiation of Food Commodities: Techniques, Applications, Detection, Legislation, Safety and Consumer Opinion\", Academic Press, Oxford, Édition 1, 2010.","Agência Nacional de Vigilância Sanitária, Resolução de Diretoria Colegiada, \"RDC n. 21: Regulamento técnico para irradiação de alimentos\", 26/01/2001.","Ministério da Agricultura, Pecuária e Abastecimento (MAPA), \"IN - Instrução Normativa N. 9\", 24 /02/2011.","Food and Drug Administration (FDA), \"Irradiation in the production, processing and handling of food\", Final Rule, Fed. Reg., 1986.","European Committee for Standardisation (CEN), CEN standards. \"Working group 8 'irradiated foodstuffs' of the Technical Committee 275\". Food analysis—horizontal methods (CEN/TC 275/WG8).","Food and Agriculture Organization of the United Nations (FAO), World Health Organization (WHO), \"Codex Alimentarius, Codex general standard for irradiated foods\", Codex Stan 106-1983. Rev. 1-2003, 2003.","World Health Organization (WHO),\"Safety and nutritional adequacy of irradiated food\", Genebra, 1994.\n[10]\tComitê Gestor da Internet no Brasil; \"TIC Domicílios 2014 - Pesquisa sobre o Uso das Tecnologias de Informação e Comunicação nos Domicílios Brasileiros\" (2015). http://www.cgi.br/publicacao/pesquisa-sobre-o-uso-das-tecnologias-de-informacao-e-comunicacao-nos-domicilios-brasileiros/ (Last accessed July 2016)."]}

Published
2016
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40. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Author

Wang, Julia, primary, Al-Ouran, Rami, additional, Hu, Yanhui, additional, Kim, Seon-Young, additional, Wan, Ying-Wooi, additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Chao, Hsiao-Tuan, additional, Comjean, Aram, additional, Mohr, Stephanie E., additional, Perrimon, Norbert, additional, Liu, Zhandong, additional, Bellen, Hugo J., additional, Adams, Christopher J., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mashid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bernstein, Jonathan A., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Draper, David D., additional, Dries, Annika M., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gahl, William A., additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorfer, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Mazur, Paul, additional, McCarty, Alexandra J., additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tifft, Cynthia J., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
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41. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author

Schoch, Kelly, primary, Meng, Linyan, additional, Szelinger, Szabolcs, additional, Bearden, David R., additional, Stray-Pedersen, Asbjorg, additional, Busk, Oyvind L., additional, Stong, Nicholas, additional, Liston, Eriskay, additional, Cohn, Ronald D., additional, Scaglia, Fernando, additional, Rosenfeld, Jill A., additional, Tarpinian, Jennifer, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Friedman, Jeremy N., additional, Akdemir, Zeynep Coban, additional, Walley, Nicole, additional, Mikati, Mohamad A., additional, Kranz, Peter G., additional, Jasien, Joan, additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, Wechsler, Stephanie Burns, additional, Freemark, Michael, additional, Kansagra, Sujay, additional, Freedman, Sharon, additional, Bali, Deeksha, additional, Millan, Francisca, additional, Bale, Sherri, additional, Nelson, Stanley F., additional, Lee, Hane, additional, Dorrani, Naghmeh, additional, Goldstein, David B., additional, Xiao, Rui, additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Martinez-Agosto, Julian A., additional, Lupski, James R., additional, Wangler, Michael F., additional, Shashi, Vandana, additional, Grody, Wayne W., additional, Strom, Samuel P., additional, Vilain, Eric, additional, Deignan, Joshua, additional, Quintero-Rivera, Fabiola, additional, Kantarci, Sibel, additional, Mullegama, Sureni, additional, Kang, Sung-Hae, additional, Alejandro, Mercedes E., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Hanchard, Neil A., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Mashid, Azamian S., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Potocki, Lorraine, additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Gropman, Andrea L., additional, Jiang, Yong-hui, additional, Pena, Loren D.M., additional, Schoch, Kelly, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Briere, Lauren C., additional, Cooper, Cynthia M., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Holm, Ingrid A., additional, Kohane, Isaac S., additional, Mazur, Paul, additional, McCray, Alexa T., additional, Might, Matthew, additional, Ramoni, Rachel B., additional, Splinter, Kimberly, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Brown, Donna M., additional, Dorset, Dan C., additional, Handley, Lori H., additional, Jacob, Howard J., additional, Jones, Angela L., additional, Lazar, Jozef, additional, Levy, Shawn E., additional, Newberry, J. Scott, additional, Schroeder, Molly C., additional, Strong, Kimberly A., additional, Worthey, Elizabeth A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Gould, Sarah E., additional, Howerton, Ellen M., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Soldatos, Ariane G., additional, Brush, Matthew, additional, Gourdine, Jean-Philippe F., additional, Haendel, Melissa, additional, Koeller, David M., additional, Kyle, Jennifer E., additional, Metz, Thomas O., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Dries, Annika M., additional, Fisher, Paul G., additional, Kohler, Jennefer N., additional, Waggott, Daryl M., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Allard, Patrick, additional, Barseghyan, Hayk, additional, Dell’Angelica, Esteban C., additional, Dipple, Katrina M., additional, Herzog, Matthew R., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Sinsheimer, Janet S., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary “Gracie” G., additional, Groden, Catherine A., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Yu, Guoyun, additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Lee, Paul R., additional, Postlethwait, John H., additional, Westerfield, Monte, additional, Bican, Anna, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, Robertson, Amy K., additional, and Cogan, Joy D., additional

Published
2017
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42. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Author

Ramoni, Rachel B., primary, Mulvihill, John J., additional, Adams, David R., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Gahl, William A., additional, Hamid, Rizwan, additional, Loscalzo, Joseph, additional, McCray, Alexa T., additional, Shashi, Vandana, additional, Tifft, Cynthia J., additional, Wise, Anastasia L., additional, Adams, Christopher J., additional, Alejandro, Mercedes E., additional, Azamian, Mashid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bellen, Hugo J., additional, Bernick, David, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brownstein, Catherine A., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Draper, David D., additional, Dries, Annika M., additional, Eastwood, Rachel, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary “Gracie” G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Iglesias, Brenda, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorder, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Martin, Casey, additional, Mazur, Paul, additional, McCarty, Alexandra J., additional, McConkie-Rosell, Allyn, additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Wangler, Michael F., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
Full Text
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43. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Author

Chao, Hsiao-Tuan, primary, Davids, Mariska, additional, Burke, Elizabeth, additional, Pappas, John G., additional, Rosenfeld, Jill A., additional, McCarty, Alexandra J., additional, Davis, Taylor, additional, Wolfe, Lynne, additional, Toro, Camilo, additional, Tifft, Cynthia, additional, Xia, Fan, additional, Stong, Nicholas, additional, Johnson, Travis K., additional, Warr, Coral G., additional, Yamamoto, Shinya, additional, Adams, David R., additional, Markello, Thomas C., additional, Gahl, William A., additional, Bellen, Hugo J., additional, Wangler, Michael F., additional, Malicdan, May Christine V., additional, Adams, Christopher J., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Beggs, Alan H., additional, Bernstein, Jonathan A., additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burrage, Lindsay C., additional, Chao, Katherine R., additional, Clark, Gary D., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Dan C., additional, Draper, David D., additional, Dries, Annika M., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fisher, Paul G., additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Goldstein, David B., additional, Gordon, Mary “Gracie” G., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Graham, Brett H., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Hardee, Isabel, additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Howerton, Ellen M., additional, Jacob, Howard J., additional, Jain, Mahim, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Koehler, Alanna E., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Brendan H., additional, Lee, Hane, additional, Lee, Paul R., additional, Levy, Shawn E., additional, Levy, Denise J., additional, Lewis, Richard A., additional, Liebendorder, Adam P., additional, Lincoln, Sharyn A., additional, Loomis, Carson R., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mashid, Azamian S., additional, Mazur, Paul, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Ramoni, Rachel B., additional, Rodan, Lance H., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Soldatos, Ariane G., additional, Spillmann, Rebecca C., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Strong, Kimberly A., additional, Sullivan, Jennifer A., additional, Sweetser, David A., additional, Thomas, Sara P., additional, Tift, Cynthia J., additional, Tolman, Nathanial J., additional, Tran, Alyssa A., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Warburton, Mike, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Weech, Alec A., additional, Westerfield, Monte, additional, Wheeler, Matt T., additional, Wise, Anastasia L., additional, Worthe, Lynne A., additional, Worthey, Elizabeth A., additional, Yang, Yaping, additional, Yu, Guoyun, additional, and Zornio, Patricia A., additional

Published
2017
Full Text
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44. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Author

Shashi, Vandana, primary, Pena, Loren D.M., additional, Kim, Katherine, additional, Burton, Barbara, additional, Hempel, Maja, additional, Schoch, Kelly, additional, Walkiewicz, Magdalena, additional, McLaughlin, Heather M., additional, Cho, Megan, additional, Stong, Nicholas, additional, Hickey, Scott E., additional, Shuss, Christine M., additional, Freemark, Michael S., additional, Bellet, Jane S., additional, Keels, Martha Ann, additional, Bonner, Melanie J., additional, El-Dairi, Maysantoine, additional, Butler, Megan, additional, Kranz, Peter G., additional, Stumpel, Constance T.R.M., additional, Klinkenberg, Sylvia, additional, Oberndorff, Karin, additional, Alawi, Malik, additional, Santer, Rene, additional, Petrovski, Slavé, additional, Kuismin, Outi, additional, Korpi-Heikkilä, Satu, additional, Pietilainen, Olli, additional, Aarno, Palotie, additional, Kurki, Mitja I., additional, Hoischen, Alexander, additional, Need, Anna C., additional, Goldstein, David B., additional, Kortüm, Fanny, additional, Bacino, A., additional, Lee, Brendan H., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lewis, Richard A., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Scott, Daryl A., additional, Hanchard, Neil A., additional, Alyssa, Tran A., additional, Mercedes, Alejandro E., additional, Mashid, Azamian S., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Wangler, Michael F., additional, Westerfield, Monte, additional, Postlethwait, John H., additional, Eng, Christine M., additional, Yang, Yaping, additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Ramoni, Rachel B., additional, McCray, Alexa T., additional, Kohane, Issac S., additional, Holm, Ingrid A., additional, Might, Matthew, additional, Mazur, Paul, additional, Splinter, Kimberly, additional, Esteves, Cecilia, additional, Shashi, Vandana, additional, Jiang, Yong-hui, additional, McConkie-Rosell, Allyn, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Loscalzo, Joseph, additional, MacRae, Calum A., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Maas, Richard L., additional, Krier, Joel B., additional, Rodan, Lance H., additional, Walsh, Chris A., additional, Cooper, Cynthia M., additional, Pallais, Juan C., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Lincoln, Sharyn A., additional, Briere, Lauren C., additional, Jacob, Howard J., additional, Worthey, Elizabeth A., additional, Lazar, Joe, additional, Strong, Kim A., additional, Handley, Lori H., additional, Newberry, J. Scott, additional, Bick, David P., additional, Schroeder, Molly C., additional, Brown, Donna M., additional, Birch, Camille L., additional, Levy, Shawn E., additional, Boone, Braden E., additional, Dorset, Dan C., additional, Jones, Angela L., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Iglesias, Brenda, additional, Martin, Casey, additional, Koeller, David M., additional, Metz, Thomas O., additional, Ashley, Euan A., additional, Fisher, Paul G., additional, Bernstein, Jonathan A., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Waggott, Daryl M., additional, Dries, Annika M., additional, Kohler, Jennefer N., additional, Dipple, Katrina M., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Vilain, Eric, additional, Allard, Patrick, additional, Dell Angelica, Esteban C., additional, Lee, Hane, additional, Sinsheimer, Janet S., additional, Papp, Jeanette C., additional, Dorrani, Naghmeh, additional, Herzog, Matthew R., additional, Barseghyan, Hayk, additional, Adams, David R., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gahl, William A., additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary G., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, Chyau Yueh C., additional, Lee, Paul R., additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Malicdan, May V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Soldatos, Ariane G., additional, Thomas, Sara P., additional, Tifft, Cynthia J., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Wolfe, Lynne A., additional, Yu, Guoyun, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, and Cogan, Joy D., additional

Published
2016
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45. LETTERS TO THE EDITOR.

Author

Jacobsen, Jeanna M. and Levy, Denise L.

Subjects
*LGBTQ+ people, *CHRISTIANITY, *SOCIAL services
Published
2018

46. Contribution to the informatization of radiation protection programs for nuclear facilities other than nuclear fuel cycle

Author

LEVY, DENISE S. and Gian Maria Agostino Angelo Sordi

Subjects
computer codes, fuel cycle, computerized control systems, nuclear fuels, program management, radiation protection, nuclear facilities
Abstract

Made available in DSpace on 2014-10-09T12:35:14Z (GMT). No. of bitstreams: 0 Made available in DSpace on 2014-10-09T14:09:36Z (GMT). No. of bitstreams: 0 Para elaborar um programa de prote????o radiol??gica, as instala????es radiativas brasileiras devem considerar normas, diretrizes e recomenda????es nacionais e internacionais que encontram-se em documentos de diferentes organiza????es publicados nas ??ltimas d??cadas: Comiss??o Internacional de Prote????o Radiol??gica (CIPR), Organismo Internacional de Energia At??mica (OIEA) e Comiss??o Nacional de Energia Nuclear (CNEN). Visando a proporcionar a essas instala????es o acesso ??s informa????es pertinentes de forma r??pida, integrada e eficiente, este projeto prop??e informatizar e disponibilizar em um s?? documento os programas de otimiza????o da prote????o radiol??gica unificados, inter-relacionados e em portugu??s, fornecendo ao p??blico usu??rio um ve??culo completo para fins de pesquisa, consulta e informa????o. A partir do discernimento do que deve conter cada programa e seu real dimensionamento, foi trabalhado o inter-relacionamento das informa????es de maneira a satisfazer as normas e recomenda????es nacionais e internacionais. O projeto inclui conceitos, defini????es e teoria necess??rios, al??m da pesquisa detalhada do conte??do do programa de otimiza????o, das t??cnicas de ajuda para tomada de decis??o, das doses de radia????o e detrimento e das informa????es relacionadas aos custos de prote????o. O conte??do permite responder a todas as quest??es que devem ser colocadas na elabora????o de um programa de otimiza????o de forma a possibilitar montagem do plano de Prote????o Radiol??gica conforme a situa????o espec??fica do usu??rio. Para a informatiza????o dos programas de otimiza????o foram estudadas as possibilidades de acesso ?? Tecnologia da Informa????o e Comunica????o nas empresas brasileiras, possibilitando identificar o perfil de utiliza????o do sistema e definir a estrutura funcional adequada para a cria????o das melhores interfaces de ferramentas e recursos, bem como de um projeto de navegabilidade eficaz facilitando a busca de informa????es. O poder de processamento dos servidores aliado ?? tecnologia dos bancos de dados relacionais permite correlacionar informa????es advindas de diferentes fontes, possibilitando consultas complexas com tempo de resposta reduzido. O sistema segue o padr??o WEB 2.0, que possibilita a estrutura organizacional necess??ria para a adequada informatiza????o da prote????o radiol??gica e considera os corretos crit??rios de indexa????o da informa????o para garantir seu reconhecimento pelos motores de busca da internet. O projeto conta com a combina????o de v??rias tecnologias, potencializando os recursos dispon??veis em cada uma delas para alcan??ar os objetivos propostos. Este trabalho experimental lan??a um cerne inicial para a informatiza????o dos programas de prote????o radiol??gica, informatizando inicialmente os programas de otimiza????o. A investiga????o do perfil de utiliza????o durante um per??odo de cinco meses possibilitou o levantamento de dados importantes que apontam novas possibilidades para o desenvolvimento da informatiza????o dos programas de prote????o radiol??gica. Pretende-se, a partir dos resultados deste projeto, aprofundar o trabalho de investiga????o e completar a execu????o do sistema de informatiza????o. Disserta????o (Mestrado) IPEN/D Instituto de Pesquisas Energeticas e Nucleares - IPEN-CNEN/SP

Published
2012

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