An inclusive Research and Education Community (iREC) model to facilitate undergraduate science education reform

Autor: Denise L. Monti, Julia C. Gill, Tamarah L. Adair, Sandra D. Adams, Yesmi Patricia Ahumada-Santos, Isabel Amaya, Kirk Anders, Justin R. Anderson, Mauricio S. Antunes, Mary Ayuk, Frederick Baliraine, Tonya C. Bates, Andrea R. Beyer, Suparna Bhalla, Tejas Bouklas, Sharon K. Bullock, Kristen A. Butela, Christine Byrum, Steven M. Caruso, Rebecca Chong, Hui-Min Chung, Stephanie B. Conant, Brett Condon, Katie E. Crump, Tom D'Elia, Megan K. Dennis, Linda C. DeVeaux, Lautaro Diacovich, Arturo Diaz, Iain Duffy, Dustin Edwards, Patricia C. Fallest-Strobl, Ann Findley, Matthew R. Fisher, Marie P. Fogarty, Victoria Jane Frost, Maria D. Gainey, Courtney S. Galle, Bryan Gibb, Urszula Golebiewska, Hugo Gramajo, Anna S. Grinath, Jennifer Guerrero, Nancy Guild, Kathryn E. Gunn, Susan Gurney, Lee E. Hughes, Pradeepa Jayachandran, Kristen Johnson, Allison Johnson, Alison E. Kanak, Michelle L. Kanther, Rodney A. King, Kathryn Kohl, Julia Lee-Soety, Lynn O. Lewis, Heather Lindberg, Jaclyn A. Madden, Breonna J. Martin, Matthew D. Mastropaolo, Sean McClory, Evan C. Merkhofer, Julie A. Merkle, Jon Mitchell, María Alejandra Mussi, Fernando Nieto, Jillian Nissen, Imade Yolanda Nsa, Mary G. O'Donnell, R. Deborah Overath, Shallee T. Page, Andrea Panagakis, Jesús Ricardo Parra Unda, Michelle B. Pass, Tiara Perez Morales, Nick T. Peters, Ruth Plymale, Richard Pollenz, Nathan S. Reyna, Claire A. Rinehart, Jessica Rocheleau, John S. Rombold, Ombeline Rossier, Adam D. Rudner, Elizabeth E. Rueschhoff, Christopher D. Shaffer, Mary Ann V. Smith, Amy B. Sprenkle, C. Nicole Sunnen, Michael A. Thomas, Michelle M. Tigges, Deborah Tobiason, Sara Sybesma Tolsma, Julie Torruellas Garcia, Peter Uetz, Edwin Vazquez, Catherine M. Ward, Vassie C. Ware, Jacqueline M. Washington, Matthew J. Waterman, Daniel E. Westholm, Keith A. Wheaton, Simon J. White, Elizabeth C. Williams, Daniel C. Williams, Ellen M. Wisner, William H. Biederman, Steven G. Cresawn, Danielle M. Heller, Deborah Jacobs-Sera, Daniel A. Russell, Graham F. Hatfull, David J. Asai, David I. Hanauer, Mark J. Graham, Viknesh Sivanathan

Publikováno v: Frontiers in Education, Vol 9 (2024)

Over the last two decades, there have been numerous initiatives to improve undergraduate student outcomes in STEM. One model for scalable reform is the inclusive Research Education Community (iREC). In an iREC, STEM faculty from colleges and universi

Externí odkaz: https://doaj.org/article/f50dca97413047c5972e7d31f6d2f587

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Autor: Donna M, Werling, Harrison, Brand, Joon-Yong, An, Matthew R, Stone, Lingxue, Zhu, Joseph T, Glessner, Ryan L, Collins, Shan, Dong, Ryan M, Layer, Eirene, Markenscoff-Papadimitriou, Andrew, Farrell, Grace B, Schwartz, Harold Z, Wang, Benjamin B, Currall, Xuefang, Zhao, Jeanselle, Dea, Clif, Duhn, Carolyn A, Erdman, Michael C, Gilson, Rachita, Yadav, Robert E, Handsaker, Seva, Kashin, Lambertus, Klei, Jeffrey D, Mandell, Tomasz J, Nowakowski, Yuwen, Liu, Sirisha, Pochareddy, Louw, Smith, Michael F, Walker, Matthew J, Waterman, Xin, He, Arnold R, Kriegstein, John L, Rubenstein, Nenad, Sestan, Steven A, McCarroll, Benjamin M, Neale, Hilary, Coon, A Jeremy, Willsey, Joseph D, Buxbaum, Mark J, Daly, Matthew W, State, Aaron R, Quinlan, Gabor T, Marth, Kathryn, Roeder, Bernie, Devlin, Michael E, Talkowski, Stephan J, Sanders

Publikováno v: Nature genetics. 50(5)

Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to evaluate rare and de novo noncoding single-nucleotide var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a8c093cb96051f7b98753820c9d234c7
https://pubmed.ncbi.nlm.nih.gov/29700468

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Autor: Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li

Publikováno v: Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5007f204ae92a2e6bbed6b2be1af11
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c