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5. Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)

Author

Pastor, Steven, Tran, Oanh, Jin, Andrea, Carrado, Danielle, Silva, Benjamin A., Uppuluri, Lahari, Abid, Heba Z., Young, Eleanor, Crowley, T. Blaine, Bailey, Alice G., McGinn, Daniel E., McDonald-McGinn, Donna M., Zackai, Elaine H., Xie, Michael, Taylor, Deanne, Morrow, Bernice E., Xiao, Ming, and Emanuel, Beverly S.

Published
2020
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8. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Author

Harley, John, Myers, Melanie, Namjou, Bahram, Vinks, Sander, Connolly, John, Keating, Brendan, Gerhard, Glenn, Sundaresan, Agnes, Tromp, Gerard, Crosslin, David, Leppig, Kathy, Wicklund, Cathy, Chute, Christopher, Lynch, John, De Andrade, Mariza, Heit, John, McCormick, Jen, Brilliant, Murray, Kitchner, Terrie, Ritchie, Marylyn, Böttinger, Erwin, Peter, Inga, Persell, Stephen, Rasmussen-Torvik, Laura, McGregor, Tracy, Roden, Dan, Antommaria, Armand, Chiavacci, Rosetta, Faucett, Andy, Ledbetter, David, Williams, Janet, Hartzler, Andrea, Vitek, Carolyn R. Rohrer, Frost, Norm, Ferryman, Kadija, Horowitz, Carol, Rhodes, Rosamond, Zinberg, Randi, Aufox, Sharon, Pan, Vivian, Long, Rochelle, Ramos, Erin, Odgis, Jackie, Wise, Anastasia, Hull, Sara, Gitlin, Jonathan, Green, Robert, Metterville, Danielle, McGuire, Amy, Kong, Sek Won, Trinidad, Sue, Veenstra, David, Roche, Myra, Skinner, Debra, Raspberry, Kelly, O’Daniel, Julianne, Parsons, Will, Eng, Christine, Hilsenbeck, Susan, Karavite, Dean, Conlin, Laura, Spinner, Nancy, Krantz, Ian, Falk, Marni, Santani, Avni, Dechene, Elizabeth, Dulik, Matthew, Bernhardt, Barbara, Schuetze, Scott, Everett, Jessica, Gornick, Michele Caroline, Wilfond, Ben, Tabor, Holly, Lemke, Amy A., Richards, Sue, Goddard, Katrina, Cooper, Greg, East, Kelly, Barsh, Greg, Koenig, Barbara, Van Allen, Eliezer, Garber, Judy, Garrett, Jeremy, Zawati, Ma’n, Lewis, Michelle, Savage, Sarah, Smith, Maureen, Roychowdhury, Sameek, Bailey, Alice, Berkman, Benjamin, Anan, Charlisse Caga, Hindorff, Lucia, Hutter, Carolyn, King, Rosalind, Li, Rongling, Lockhart, Nicole, McEwen, Jean, Scholes, Derek, Schully, Sheri, Sun, Kathie, Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Brothers, Kyle, Clayton, Ellen W., Chung, Wendy, Evans, Barbara J., Evans, James P., Fullerton, Stephanie M., Gallego, Carlos J., Garrison, Nanibaa’ A., Gray, Stacy W., Holm, Ingrid A., Kullo, Iftikhar J., Lehmann, Lisa Soleymani, McCarty, Cathy, Prows, Cynthia A., Rehm, Heidi L., Sharp, Richard R., Salama, Joseph, Sanderson, Saskia, Van Driest, Sara L., Williams, Marc S., Wolf, Susan M., Wolf, Wendy A., and Burke, Wylie

Published
2014
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10. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression

Author

Campbell, Ian M., primary, Crowley, T. Blaine, additional, Jobaliya, Chintan, additional, Bailey, Alice, additional, McGinn, Daniel E., additional, Gaiser, Kimberly, additional, Bassett, Anne, additional, Gur, Raquel E., additional, Morrow, Bernice, additional, Emanuel, Beverly S., additional, Franco, Aime T., additional, French, Deborah, additional, Zackai, Elaine H., additional, McDonald‐McGinn, Donna M., additional, and Lambert, Michele P., additional

Published
2022
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12. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

Author

Campbell, Ian M., Crowley, T. Blaine, Jobaliya, Chintan, Bailey, Alice, McGinn, Daniel E., Gaiser, Kimberly, Bassett, Anne, Gur, Raquel E., Morrow, Bernice, Emanuel, Beverly S., Franco, Aime T., French, Deborah, Zackai, Elaine H., McDonald‐McGinn, Donna M., and Lambert, Michele P.

Subjects
DIGEORGE syndrome, MEAN platelet volume, BLOOD platelets, IDIOPATHIC thrombocytopenic purpura, CONGENITAL heart disease, PLATELET count, THYROID hormone receptors, THROMBOPOIETIN receptors
Abstract

Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non‐deleted populations. They also have an increased mean platelet volume. The mechanism for this has been postulated to be haploinsufficiency of the GPIBB gene. We examined platelet parameters, deletion size and factors known to influence counts, including status of thyroid hormone and congenital heart disease (CHD), in a population of 825 patients with 22q11.2DS. We also measured surface expression of GPIB‐IX complex by flow cytometry. The major determinant of PC was deletion status of GP1BB, regardless of surface expression or other factors. Patients with nested distal chromosome 22q11.2 deletions (those with GP1BB present) had higher PCs than those with proximal deletions where GP1BB is deleted. Patients with 22q11.2DS also demonstrated an accelerated PC decrease with age, occurring in childhood. These data demonstrate that genes within the proximal deletion segment drive PC differences in 22q11.2DS and suggest that PC reference ranges may need to be adjusted for age and deletion size in 22q11.2DS populations. Bleeding did not correlate with either platelet count or GPIb expression. Further studies into drivers of expression of GPIb and associations with severe thrombocytopenia and immune thrombocytopenia are needed to inform clinical care. [ABSTRACT FROM AUTHOR]

Published
2023
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16. The Large Hadron-Electron Collider at the HL-LHC

Author

Agostini, P., Aksakal, H., Alekhin, S., Allport, P. P., Andari, N., Andre, K. D. J., Angal-Kalinin, D., Antusch, S., Aperio Bella, L., Apolinario, L., Apsimon, R., Apyan, A., Arduini, G., Ari, Burcak Aktürk, Armbruster, A., Armesto, N., Auchmann, B., Aulenbacher, K., Azuelos, G., Backovic, S., Bailey, Alice, Bailey, S., Balli, F., Behera, S., Behnke, O., Ben-Zvi, Benedikt, M., Bernauer, J., Bertolucci, S., Biswal, S. S., Bluemlein, J., Bogacz, A., Bonvini, M., Boonekamp, M., Bordry, F., Boroun, G. R., Bottura, L., Bousson, S., Bouzas, A. O., Bracco, C., Bracinik, J., Britzger, D., Brodsky, S. J., Bruni, C., Bruning, O., Burkhardt, H., Cakir, O., Calaga, R., Caldwell, A., Caliskan, A., Camarda, S., Catalan-Lasheras, N. C., Cassou, K., Cepila, J., Cetinkaya, Semra, Chetvertkova, Cole, B., Coleppa, B., Cooper-Sarkar, A., Cormier, E., Cornell, A. S., Corsini, R., Cruz-Alaniz, E., Currie, J., Curtin, D., D'Onofrio, M., Dainton, J., Daly, E., Das, A., Das, S. P., Dassa, L., de Blas, J., Delle Rose, L., Denizli, H., Deshpande, K. S., Douglas, D., Duarte, L., Dupraz, K., Dutta, S., Efremov, A., Eichhorn, R., Eskola, K. J., Ferreiro, E. G., Fischer, O., Flores-Sanchez, O., Forte, S., Gaddi, A., Gao, J., Gehrmann, T., Gehrmann-De Ridder, A., Gerigk, F., Gilbert, A., Giuli, F., Glazov, A., Glover, N., Godbole, R. M., Goddard, B., Goncalves, Rodrigo, Gonzalez-Sprinberg, G. A., Goyal, A., Grames, J., Granados, E., Grassellino, A., Gunaydin, Y. O., Guo, Y. C., Guzey, Gwenlan, C., Hammad, A., Han, C. C., Harland-Lang, L., Haug, F., Hautmann, F., Hayden, D., Hessler, J., Helenius, Dorte, Henry, J., Hernandez-Sanchez, J., Hesari, H., Hobbs, T. J., Hod, N., Hoffstaetter, G. H., Holzer, B., Honorato, C. G., Hounsell, B., Hu, N., Hug, F., Huss, A., Hutton, A., Islam, R., Iwamoto, S., Jana, S., Jansova, M., Jensen, E., Jones, T., Jowett, J. M., Kaabi, W., Kado, M., Kalinin, D. A., Karadeniz, H., Kawaguchi, S., Kaya, U., Khalek, R. A., Khanpour, H., Kilic, A., Klein, M., Klein, U., Kluth, S., Koksal, M., Kocak, F., Korostelev, M., Kostka, P., Krelina, M., Kretzschmar, J., Kuday, S., Kulipanov, G., Kumar, M., Kuze, M., Lappi, T., Larios, F., Latina, A., Laycock, P., Lei, G., Levitchev, E., Levonian, S., Levy, A., Li, R., Li, X., Liang, H., Litvinenko, Liu, M., Liu, T., Liu, W., Liu, Y., Liuti, S., Lobodzinska, E., Longuevergne, D., Luo, X., Ma, W., Machado, M., Mandal, S., Mantysaari, H., Marhauser, F., Marquet, C., Martens, A., Martin, R., Marzani, S., McFayden, J., Mcintosh, P., Mellado, B., Meot, F., Milanese, A., Milhano, J. G., Militsyn, B., Mitra, M., Moch, S., Mohammadi Najafabadi, M., Mondal, S., Moretti, S., Morgan, T., Morreale, A., Nadolsky, P., Navarra, F., Nergiz, Z., Newman, P., Niehues, J., Nissen, E. A., Nowakowski, M., Okada, N., Olivier, G., Olness, F., Olry, G., Osborne, J. A., Ozansoy, A., Pan, R., Parker, B., Patra, M., Paukkunen, H., Peinaud, Y., Pellegrini, D., Perez-Segurana, G., Perini, D., Perrot, L., Pietralla, N., Pilicer, E., Pire, B., Pires, J., Placakyte, R., Poelker, M., Polifka, R., Polini, A., Poulose, P., Pownall, G., Pupkov, Y. A., Queiroz, F. S., Rabbertz, K., Radescu, V., Rahaman, R., Rai, S. K., Raicevic, N., Ratoff, P., Rashed, A., Raut, D., Raychaudhuri, S., Repond, J., Rezaeian, A. H., Rimmer, R., Rinolfi, L., Rojo, J., Rosado, A., Ruan, X., Russenschuck, S., Sahin, M., Salgado, C. A., Sampayo, O. A., Satendra, K., Satyanarayan, N., Schenke, B., Schirm, K., Schopper, H., Schott, M., Schulte, D., Schwanenberger, C., Sekine, T., Senol, A., Seryi, A., Setiniyaz, S., Shang, L., Shen, X., Shipman, N., Sinha, N., Slominski, W., Smith, S., Solans, C., Song, M., Spiesberger, H., Stanyard, J., Starostenko, A., Stasto, A., Stocchi, A., Strikman, M., Stuart, M. J., Sultansoy, S., Sun, H., Sutton, M., Szymanowski, L., Tapan, Tapia-Takaki, D., Tanaka, M., Tang, Y., Tasci, A. T., Ten-Kate, A. T., Thonet, P., Tomas-Garcia, R., Tommasini, D., Trbojevic, D., Trott, M., Tsurin, Tudora, A., Turk Cakir, Tywoniuk, K., Vallerand, C., Valloni, A., Verney, D., Vilella, E., Walker, D., Wallon, S., Wang, B., Wang, K., Wang, X., Wang, Z. S., Wei, H., Willering, G., Williams, P. H., Wollmann, D., Xiaohao, C., Xu, T., Yaguna, C. E., Yamaguchi, Y., Yamazaki, Y., Yang, H., Yilmaz, A., Yock, P., Yue, C. X., Zadeh, S. G., Zenaiev, O., Zhang, C., Zhang, J., Zhang, R., Zhang, Z., Zhu, G., Zhu, S., Zimmermann, F., Zomer, F., Zurita, J., Zurita, P., Agostini, P., Aksakal, H., Alekhin, S., Allport, P. P., Andari, N., Andre, K. D. J., Angal-Kalinin, D., Antusch, S., Aperio Bella, L., Apolinario, L., Apsimon, R., Apyan, A., Arduini, G., Ari, Burcak Aktürk, Armbruster, A., Armesto, N., Auchmann, B., Aulenbacher, K., Azuelos, G., Backovic, S., Bailey, Alice, Bailey, S., Balli, F., Behera, S., Behnke, O., Ben-Zvi, Benedikt, M., Bernauer, J., Bertolucci, S., Biswal, S. S., Bluemlein, J., Bogacz, A., Bonvini, M., Boonekamp, M., Bordry, F., Boroun, G. R., Bottura, L., Bousson, S., Bouzas, A. O., Bracco, C., Bracinik, J., Britzger, D., Brodsky, S. J., Bruni, C., Bruning, O., Burkhardt, H., Cakir, O., Calaga, R., Caldwell, A., Caliskan, A., Camarda, S., Catalan-Lasheras, N. C., Cassou, K., Cepila, J., Cetinkaya, Semra, Chetvertkova, Cole, B., Coleppa, B., Cooper-Sarkar, A., Cormier, E., Cornell, A. S., Corsini, R., Cruz-Alaniz, E., Currie, J., Curtin, D., D'Onofrio, M., Dainton, J., Daly, E., Das, A., Das, S. P., Dassa, L., de Blas, J., Delle Rose, L., Denizli, H., Deshpande, K. S., Douglas, D., Duarte, L., Dupraz, K., Dutta, S., Efremov, A., Eichhorn, R., Eskola, K. J., Ferreiro, E. G., Fischer, O., Flores-Sanchez, O., Forte, S., Gaddi, A., Gao, J., Gehrmann, T., Gehrmann-De Ridder, A., Gerigk, F., Gilbert, A., Giuli, F., Glazov, A., Glover, N., Godbole, R. M., Goddard, B., Goncalves, Rodrigo, Gonzalez-Sprinberg, G. A., Goyal, A., Grames, J., Granados, E., Grassellino, A., Gunaydin, Y. O., Guo, Y. C., Guzey, Gwenlan, C., Hammad, A., Han, C. C., Harland-Lang, L., Haug, F., Hautmann, F., Hayden, D., Hessler, J., Helenius, Dorte, Henry, J., Hernandez-Sanchez, J., Hesari, H., Hobbs, T. J., Hod, N., Hoffstaetter, G. H., Holzer, B., Honorato, C. G., Hounsell, B., Hu, N., Hug, F., Huss, A., Hutton, A., Islam, R., Iwamoto, S., Jana, S., Jansova, M., Jensen, E., Jones, T., Jowett, J. M., Kaabi, W., Kado, M., Kalinin, D. A., Karadeniz, H., Kawaguchi, S., Kaya, U., Khalek, R. A., Khanpour, H., Kilic, A., Klein, M., Klein, U., Kluth, S., Koksal, M., Kocak, F., Korostelev, M., Kostka, P., Krelina, M., Kretzschmar, J., Kuday, S., Kulipanov, G., Kumar, M., Kuze, M., Lappi, T., Larios, F., Latina, A., Laycock, P., Lei, G., Levitchev, E., Levonian, S., Levy, A., Li, R., Li, X., Liang, H., Litvinenko, Liu, M., Liu, T., Liu, W., Liu, Y., Liuti, S., Lobodzinska, E., Longuevergne, D., Luo, X., Ma, W., Machado, M., Mandal, S., Mantysaari, H., Marhauser, F., Marquet, C., Martens, A., Martin, R., Marzani, S., McFayden, J., Mcintosh, P., Mellado, B., Meot, F., Milanese, A., Milhano, J. G., Militsyn, B., Mitra, M., Moch, S., Mohammadi Najafabadi, M., Mondal, S., Moretti, S., Morgan, T., Morreale, A., Nadolsky, P., Navarra, F., Nergiz, Z., Newman, P., Niehues, J., Nissen, E. A., Nowakowski, M., Okada, N., Olivier, G., Olness, F., Olry, G., Osborne, J. A., Ozansoy, A., Pan, R., Parker, B., Patra, M., Paukkunen, H., Peinaud, Y., Pellegrini, D., Perez-Segurana, G., Perini, D., Perrot, L., Pietralla, N., Pilicer, E., Pire, B., Pires, J., Placakyte, R., Poelker, M., Polifka, R., Polini, A., Poulose, P., Pownall, G., Pupkov, Y. A., Queiroz, F. S., Rabbertz, K., Radescu, V., Rahaman, R., Rai, S. K., Raicevic, N., Ratoff, P., Rashed, A., Raut, D., Raychaudhuri, S., Repond, J., Rezaeian, A. H., Rimmer, R., Rinolfi, L., Rojo, J., Rosado, A., Ruan, X., Russenschuck, S., Sahin, M., Salgado, C. A., Sampayo, O. A., Satendra, K., Satyanarayan, N., Schenke, B., Schirm, K., Schopper, H., Schott, M., Schulte, D., Schwanenberger, C., Sekine, T., Senol, A., Seryi, A., Setiniyaz, S., Shang, L., Shen, X., Shipman, N., Sinha, N., Slominski, W., Smith, S., Solans, C., Song, M., Spiesberger, H., Stanyard, J., Starostenko, A., Stasto, A., Stocchi, A., Strikman, M., Stuart, M. J., Sultansoy, S., Sun, H., Sutton, M., Szymanowski, L., Tapan, Tapia-Takaki, D., Tanaka, M., Tang, Y., Tasci, A. T., Ten-Kate, A. T., Thonet, P., Tomas-Garcia, R., Tommasini, D., Trbojevic, D., Trott, M., Tsurin, Tudora, A., Turk Cakir, Tywoniuk, K., Vallerand, C., Valloni, A., Verney, D., Vilella, E., Walker, D., Wallon, S., Wang, B., Wang, K., Wang, X., Wang, Z. S., Wei, H., Willering, G., Williams, P. H., Wollmann, D., Xiaohao, C., Xu, T., Yaguna, C. E., Yamaguchi, Y., Yamazaki, Y., Yang, H., Yilmaz, A., Yock, P., Yue, C. X., Zadeh, S. G., Zenaiev, O., Zhang, C., Zhang, J., Zhang, R., Zhang, Z., Zhu, G., Zhu, S., Zimmermann, F., Zomer, F., Zurita, J., and Zurita, P.

Abstract

The Large Hadron-Electron Collider (LHeC) is designed to move the field of deep inelastic scattering (DIS) to the energy and intensity frontier of particle physics. Exploiting energy-recovery technology, it collides a novel, intense electron beam with a proton or ion beam from the High-Luminosity Large Hadron Collider (HL-LHC). The accelerator and interaction region are designed for concurrent electron-proton and proton-proton operations. This report represents an update to the LHeC's conceptual design report (CDR), published in 2012. It comprises new results on the parton structure of the proton and heavier nuclei, QCD dynamics, and electroweak and top-quark physics. It is shown how the LHeC will open a new chapter of nuclear particle physics by extending the accessible kinematic range of lepton-nucleus scattering by several orders of magnitude. Due to its enhanced luminosity and large energy and the cleanliness of the final hadronic states, the LHeC has a strong Higgs physics programme and its own discovery potential for new physics. Building on the 2012 CDR, this report contains a detailed updated design for the energy-recovery electron linac (ERL), including a new lattice, magnet and superconducting radio-frequency technology, and further components. Challenges of energy recovery are described, and the lower-energy, high-current, three-turn ERL facility, PERLE at Orsay, is presented, which uses the LHeC characteristics serving as a development facility for the design and operation of the LHeC. An updated detector design is presented corresponding to the acceptance, resolution, and calibration goals that arise from the Higgs and parton-density-function physics programmes. This paper also presents novel results for the Future Circular Collider in electron-hadron (FCC-eh) mode, which utilises the same ERL technology to further extend the reach of DIS to even higher centre-of-mass energies.

Published
2021

17. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Author

McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, and Jerome-Majewska, Loydie A

Published
2013
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18. Cardiac evaluation of patients with 22q11.2 duplication syndrome

Author

Butensky, Adam, primary, Rinaldis, Chiara Pandolfi, additional, Patel, Shrey, additional, Edman, Sharon, additional, Bailey, Alice, additional, McGinn, Daniel E., additional, Zackai, Elaine, additional, Crowley, T. Blaine, additional, McDonald‐McGinn, Donna M., additional, Min, Jungwon, additional, and Goldmuntz, Elizabeth, additional

Published
2020
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21. Cardiac evaluation of patients with 22q11.2 duplication syndrome.

Author

Butensky, Adam, Rinaldis, Chiara Pandolfi, Patel, Shrey, Edman, Sharon, Bailey, Alice, McGinn, Daniel E., Zackai, Elaine, Crowley, T. Blaine, McDonald‐McGinn, Donna M., Min, Jungwon, and Goldmuntz, Elizabeth

Abstract

The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Our study sought to detail the cardiac phenotype associated with 22q11.2DupS, the prevalence of aortic arch anomalies and aortic root dilation in 22q11.2DupS, and to assess how frequently new congenital heart disease (CHD) is diagnosed at outpatient cardiac evaluation following genetic diagnosis. In our cohort of 85 patients, 20.0% had CHD, with a wide range of phenotypes. Sixty‐eight patients had complete cardiac evaluations detailing aortic arch sidedness and branching pattern, of which 5 (7.4%) had an aortic arch anomaly, all of whom had concurrent intracardiac CHD. Of 53 patients without CHD who had complete cardiac evaluations, only 3 (5.7%) had evidence of aortic root dilation. Of 46 patients who underwent outpatient cardiac evaluation following diagnosis of 22q11.2DupS, only one (2.2%) was found to have CHD, an isolated bicuspid aortic valve without stenosis. Therefore, the CHD phenotype in 22q11.2DupS, when present, is heterogeneous. Aortic arch anomalies are uncommon, and no patient in our cohort had one in isolation. Isolated aortic root dilation is also uncommon. Finally, outpatient cardiac evaluation following genetic diagnosis without previously known CHD infrequently identified minor cardiac malformations. [ABSTRACT FROM AUTHOR]

Published
2021
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22. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

Author

Campbell, Ian M., primary, Sheppard, Sarah E., additional, Crowley, T. Blaine, additional, McGinn, Daniel E., additional, Bailey, Alice, additional, McGinn, Michael J., additional, Unolt, Marta, additional, Homans, Jelle F., additional, Chen, Erin Y., additional, Salmons, Harold I., additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, Jackson, Oksana A., additional, Katz, Lorraine E., additional, Mascarenhas, Maria R., additional, Deeney, Vincent F. X., additional, Castelein, René M., additional, Zur, Karen B., additional, Elden, Lisa, additional, Kallish, Staci, additional, Kolon, Thomas F., additional, Hopkins, Sarah E., additional, Chadehumbe, Madeline A., additional, Lambert, Michele P., additional, Forbes, Brian J., additional, Moldenhauer, Julie S., additional, Schindewolf, Erica M., additional, Solot, Cynthia B., additional, Moss, Edward M., additional, Gur, Raquel E., additional, Sullivan, Kathleen E., additional, Emanuel, Beverly S., additional, Zackai, Elaine H., additional, and McDonald-McGinn, Donna M., additional

Published
2018
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23. Cover Image, Volume 176A, Number 10, October 2018

Author

Campbell, Ian M., primary, Sheppard, Sarah E., additional, Crowley, T. Blaine, additional, McGinn, Daniel E., additional, Bailey, Alice, additional, McGinn, Michael J., additional, Unolt, Marta, additional, Homans, Jelle F., additional, Chen, Erin Y., additional, Salmons, Harold I., additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, Jackson, Oksana A., additional, Katz, Lorraine E., additional, Mascarenhas, Maria R., additional, Deeney, Vincent F. X., additional, Castelein, René M., additional, Zur, Karen B., additional, Elden, Lisa, additional, Kallish, Staci, additional, Kolon, Thomas F., additional, Hopkins, Sarah E., additional, Chadehumbe, Madeline A., additional, Lambert, Michele P., additional, Forbes, Brian J., additional, Moldenhauer, Julie S., additional, Schindewolf, Erica M., additional, Solot, Cynthia B., additional, Moss, Edward M., additional, Gur, Raquel E., additional, Sullivan, Kathleen E., additional, Emanuel, Beverly S., additional, Zackai, Elaine H., additional, and McDonald-McGinn, Donna M., additional

Published
2018
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25. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Author

Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., and Morrow, Bernice E.

Published
2013
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26. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Author

Samanich, Joy, Werge, Thomas M., Vangkilde, Anders, Devriendt, Koen, Chow, Carolyn, Bearden, Carrie E., Eliez, Stephan, Herman, Sean, Templin, Ludivine, Swillen, Ann, Olsen, Line, Marion, Robert, Guo, Tingwei, Philip, Nicole, Bailey, Alice, Olesen, Charlotte, Jarlbrzkowski, Maria, Kaminetzky, Mark, van Amelsvoort, Therese, Delio, Maria, Zackai, Elaine, Coleman, Karlene, Higgins, Anne Marie, Vermeesch, Joris R., Dahoun, Sophie, Skovby, Flemming, Hooper, Stephen R., Schneider, Maude, McDonald-McGinn, Donna M., Busa, Tiffany, Schoch, Kelly, and Shashi, Vandana

Abstract

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6–1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.

Published
2013
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28. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Author

Jarvik, Gail P., primary, Amendola, Laura M., additional, Berg, Jonathan S., additional, Brothers, Kyle, additional, Clayton, Ellen W., additional, Chung, Wendy, additional, Evans, Barbara J., additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Gallego, Carlos J., additional, Garrison, Nanibaa’ A., additional, Gray, Stacy W., additional, Holm, Ingrid A., additional, Kullo, Iftikhar J., additional, Lehmann, Lisa Soleymani, additional, McCarty, Cathy, additional, Prows, Cynthia A., additional, Rehm, Heidi L., additional, Sharp, Richard R., additional, Salama, Joseph, additional, Sanderson, Saskia, additional, Van Driest, Sara L., additional, Williams, Marc S., additional, Wolf, Susan M., additional, Wolf, Wendy A., additional, Burke, Wylie, additional, Harley, John, additional, Myers, Melanie, additional, Namjou, Bahram, additional, Vinks, Sander, additional, Connolly, John, additional, Keating, Brendan, additional, Gerhard, Glenn, additional, Sundaresan, Agnes, additional, Tromp, Gerard, additional, Crosslin, David, additional, Leppig, Kathy, additional, Wicklund, Cathy, additional, Chute, Christopher, additional, Lynch, John, additional, De Andrade, Mariza, additional, Heit, John, additional, McCormick, Jen, additional, Brilliant, Murray, additional, Kitchner, Terrie, additional, Ritchie, Marylyn, additional, Böttinger, Erwin, additional, Peter, Inga, additional, Persell, Stephen, additional, Rasmussen-Torvik, Laura, additional, McGregor, Tracy, additional, Roden, Dan, additional, Antommaria, Armand, additional, Chiavacci, Rosetta, additional, Faucett, Andy, additional, Ledbetter, David, additional, Williams, Janet, additional, Hartzler, Andrea, additional, Vitek, Carolyn R. Rohrer, additional, Frost, Norm, additional, Ferryman, Kadija, additional, Horowitz, Carol, additional, Rhodes, Rosamond, additional, Zinberg, Randi, additional, Aufox, Sharon, additional, Pan, Vivian, additional, Long, Rochelle, additional, Ramos, Erin, additional, Odgis, Jackie, additional, Wise, Anastasia, additional, Hull, Sara, additional, Gitlin, Jonathan, additional, Green, Robert, additional, Metterville, Danielle, additional, McGuire, Amy, additional, Kong, Sek Won, additional, Trinidad, Sue, additional, Veenstra, David, additional, Roche, Myra, additional, Skinner, Debra, additional, Raspberry, Kelly, additional, O’Daniel, Julianne, additional, Parsons, Will, additional, Eng, Christine, additional, Hilsenbeck, Susan, additional, Karavite, Dean, additional, Conlin, Laura, additional, Spinner, Nancy, additional, Krantz, Ian, additional, Falk, Marni, additional, Santani, Avni, additional, Dechene, Elizabeth, additional, Dulik, Matthew, additional, Bernhardt, Barbara, additional, Schuetze, Scott, additional, Everett, Jessica, additional, Gornick, Michele Caroline, additional, Wilfond, Ben, additional, Tabor, Holly, additional, Lemke, Amy A., additional, Richards, Sue, additional, Goddard, Katrina, additional, Cooper, Greg, additional, East, Kelly, additional, Barsh, Greg, additional, Koenig, Barbara, additional, Van Allen, Eliezer, additional, Garber, Judy, additional, Garrett, Jeremy, additional, Zawati, Ma’n, additional, Lewis, Michelle, additional, Savage, Sarah, additional, Smith, Maureen, additional, Roychowdhury, Sameek, additional, Bailey, Alice, additional, Berkman, Benjamin, additional, Anan, Charlisse Caga, additional, Hindorff, Lucia, additional, Hutter, Carolyn, additional, King, Rosalind, additional, Li, Rongling, additional, Lockhart, Nicole, additional, McEwen, Jean, additional, Scholes, Derek, additional, Schully, Sheri, additional, and Sun, Kathie, additional

Published
2014
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29. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Author

McDonald-McGinn, Donna M, primary, Fahiminiya, Somayyeh, additional, Revil, Timothée, additional, Nowakowska, Beata A, additional, Suhl, Joshua, additional, Bailey, Alice, additional, Mlynarski, Elisabeth, additional, Lynch, David R, additional, Yan, Albert C, additional, Bilaniuk, Larissa T, additional, Sullivan, Kathleen E, additional, Warren, Stephen T, additional, Emanuel, Beverly S, additional, Vermeesch, Joris R, additional, Zackai, Elaine H, additional, and Jerome-Majewska, Loydie A, additional

Published
2012
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30. Quote by Bailey, Alice A. on Peace

Author

Bailey, Alice A.

Subjects
Peace, Literature/writing
Abstract

QUOTE: 'Right human relations is the only true peace.' --Bailey, Alice A. SUBJECT: [...]

Published
2010

31. "I ENTER".

Author

Bailey, Alice Morrey

Abstract

A chapter of the book "The Study and Writing of Poetry," by Wauneta Hackleman is presented. It explores a salutation letter received by a contestant in a poetry contest. It reveals that it is possible to win more than one prize on a good entry poem. It highlights some of the winning poems including "Death of a Farmer" and "Flim-Flam Man."

Published
1996

32. The Paschal Moon

Author

Bailey, Alice Ward, Bailey, Alice Ward, Bailey, Alice Ward, and Bailey, Alice Ward

Abstract

Catholic world. / Volume 53, Issue 313, Page(s) 1, (dlps) volume: bac8387.0053.313, (dlps) article: bac8387.0053.313:3, http://quod.lib.umich.edu/t/text/accesspolicy.html

33. The Spirit and the Voice

Author

Bailey, Alice Ward, Bailey, Alice Ward, Bailey, Alice Ward, and Bailey, Alice Ward

Abstract

Catholic world. / Volume 51, Issue 305, Page(s) 682-686, (dlps) volume: bac8387.0051.305, (dlps) article: bac8387.0051.305:13, http://quod.lib.umich.edu/t/text/accesspolicy.html

34. Madonna

Author

Bailey, Alice Ward, Bailey, Alice Ward, Bailey, Alice Ward, and Bailey, Alice Ward

Abstract

Catholic world. / Volume 50, Issue 298, Page(s) 427, (dlps) volume: bac8387.0050.298, (dlps) article: bac8387.0050.298:1, http://quod.lib.umich.edu/t/text/accesspolicy.html

35. Easter

Author

Bailey, Alice Ward, Bailey, Alice Ward, Bailey, Alice Ward, and Bailey, Alice Ward

Abstract

The Catholic World / Volume 49, Issue 290, Page(s) 143, (dlps) volume: bac8387.0049.290, (dlps) article: bac8387.0049.290:1, http://quod.lib.umich.edu/t/text/accesspolicy.html

36. Managing the Environment of the Stutterer

Author

Bailey, Alice Anne Gamble and Bailey, Walter R.

Abstract

Stuttering in children is found to be related to lack of language facility or articulatory proficiency, lack of harmony and/or lack of structure in the child's environment. The model presented emphasizes a goal-directed approach to energizing the resources available in the child's surroundings, i.e., the home and the school, in facilitating speech fluency. Principles and strategies are offered which relate to the two general goals involved with speech fluency and environmental management, respectively. Encouragement and respect, components of satisfactory self-esteem, are integrated into the strategies presented. An attempt has been made to provide principles on which the creative speech-language clinician may devise additional and caring strategies which may prove helpful to disfluent children.

Published
1982
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37. 18. Brochure: ''Tot 1942''.

Author

Bailey, Alice A. and Bailey, Alice A.

Abstract

Brochure Tot 1942 Bailey Alice A

Published
1939

39. Transactions of the Illinois State Academy of Science, volume 20

Author

Illinois State Academy of Science, Adams, L. A.; Anderson, Martha; Astell, Louis A.; Bailey, Alice Allen; Bailey, Clara Maurie; Baker, Frank Collins, 1867-1942; Beecher, William L.; Bell, Alfred H.; Bergsmark, D. R.; Bohannon, F. C.; Bonnell, Clarence, 1863-1947; Challis, Frank E.; Clute, Willard N.; Currens, Fred H.; Eddy, Samuel; Eklund, Edwin G.; Erffmeyer, C. E.; Fisher, D. Jerome; Frisbie, R. L.; Fuller, Margaret Bradley; Gantz, Richard Alonzo; Geauque, H. A.; Givens, H. V.; Gorman, Arthur E.; Graham, Verne O.; Hanks, Mary Elizabeth; Henbest, L. G.; Herron, James C.; Hildebrand, Louis E., 1871-1937; Hinrichs, Marie A.; Hufford, G. N.; Hull, Thomas G.; Kaplan, Bertha; Keister, William S.; Kennedy, E. V.; Lamar, J. Everts; Langford, George; Lessman, L. L.; McDougall, W. B.; Mecham, John B.; Mohme, Fred S.; Olson, George A.; Penfound, W. T.; Pepoon, Herman Silas, 1860-1942; Plummer, Beulah A.; Pope, Alton S.; Ransom, James H.; Ridgeway, Robert, 1850-1929; Solheim, W. G.; Thomas, Lyell J.; Turner, Lewis M.; Van Cleave, Harley Jones, 1886-1953; Wanless, Harold R., 1898-1970; Weld, Lewis H.; Wilson, W. Henry, Illinois State Academy of Science, Illinois State Academy of Science, Adams, L. A.; Anderson, Martha; Astell, Louis A.; Bailey, Alice Allen; Bailey, Clara Maurie; Baker, Frank Collins, 1867-1942; Beecher, William L.; Bell, Alfred H.; Bergsmark, D. R.; Bohannon, F. C.; Bonnell, Clarence, 1863-1947; Challis, Frank E.; Clute, Willard N.; Currens, Fred H.; Eddy, Samuel; Eklund, Edwin G.; Erffmeyer, C. E.; Fisher, D. Jerome; Frisbie, R. L.; Fuller, Margaret Bradley; Gantz, Richard Alonzo; Geauque, H. A.; Givens, H. V.; Gorman, Arthur E.; Graham, Verne O.; Hanks, Mary Elizabeth; Henbest, L. G.; Herron, James C.; Hildebrand, Louis E., 1871-1937; Hinrichs, Marie A.; Hufford, G. N.; Hull, Thomas G.; Kaplan, Bertha; Keister, William S.; Kennedy, E. V.; Lamar, J. Everts; Langford, George; Lessman, L. L.; McDougall, W. B.; Mecham, John B.; Mohme, Fred S.; Olson, George A.; Penfound, W. T.; Pepoon, Herman Silas, 1860-1942; Plummer, Beulah A.; Pope, Alton S.; Ransom, James H.; Ridgeway, Robert, 1850-1929; Solheim, W. G.; Thomas, Lyell J.; Turner, Lewis M.; Van Cleave, Harley Jones, 1886-1953; Wanless, Harold R., 1898-1970; Weld, Lewis H.; Wilson, W. Henry, and Illinois State Academy of Science

Subjects
United States--Illinois--Cook County; United States--Illinois--Kendall County--Joliet; United States--Illinois--Macon County--Decatur; United States--Illinois--Madison County--Alton; United States--Illinois--Mercer County; United States--Illinois--Richland County; United States--Illinois--Warren County; United States--Illinois--Will County; United States--Illinois--Will County--Joliet
Abstract

Papers, Addresses, Reports: On Popularizing Science; Geology of the Joliet District; The Genus Peperomia in Northeastern South America; The American Bithynia Not Wholly an Introduced Species; Growth of Diatoms in Relation to Dissolved Gases; Biology and Higher Education; Communities of Mushrooms; Humanizing Science Teaching.; A New Form of Ectotrophic Mycorhiza; The Venus-flytrap (Dionaea Muscipula Ellis); A Study of the Algae of a Freshwater Stream; The Flora of the Right of Way of the Illinois Central Railway: Wadhams to East Dubuque; The Effect of Vitamin (B) and (C) deficiency on the Mechanics of the Intestinal Tract; The Ligneous Flora of Richland County, Illinois; Modifications and Associated Structures of the First Three Vertebrae in the Buffalo Fish Ictiobus urus; What High School Students Eat; Marine Aquaria for High Schools and Colleges; The Coati; The Fairy Shrimps of Illinois; A Study of the Characters for the Identification of the Snakes of Illinois; A Preliminary Report on an Ecological Problem in the Illinois River Valley; The Starling; The Galls of the Chicago Area; The Fluorescence Microscope; The Separation of Old Ytterbium from Gadolinite; The Evolution of the Incandescent Lamp; Standardization of Acids with Carbonates and with Bicarbonates; A Modification of the Kjeldahl Nitrogen Procedure; Future Sources of Sulphur as Plant Food; Some Observations on Fuel Oils and Their Analyses; Progress in Science; Rice Growing in the Upper Mississippi Valley; Relative Humidity and Forest Fires; Stratified Indian Mounds in Will County; Pleistocene and Recent History of Alexis Quadrangle and Vicinity; Karst Topography and Sanitary Engineering at Alton, Illinois; Pre-Pennsylvanian Surface West of the Duquoin Anticline; Molluscan Life of the Loess Deposits of Illinois; Oil Prospecting in Western Illinois on the Basis of the Structure of Coal Beds; Multiple-Level Cirques; The Phosphate Rock Industry of Morocco; Rabies in Illinois; The Importance of Rest

44. A Sail.

Author

BAILEY, ALICE

Published
1856

46. Data use under the NIH GWAS data sharing policy and future directions.

Author

Paltoo DN, Rodriguez LL, Feolo M, Gillanders E, Ramos EM, Rutter JL, Sherry S, Wang VO, Bailey A, Baker R, Caulder M, Harris EL, Langlais K, Leeds H, Luetkemeier E, Paine T, Roomian T, Tryka K, Patterson A, and Green ED

Subjects
Humans, United States, Databases, Genetic legislation & jurisprudence, Genome-Wide Association Study standards, Information Dissemination legislation & jurisprudence, National Institutes of Health (U.S.) legislation & jurisprudence
Published
2014
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