Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)
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, Emanuel, Beverly S
Published in Scientific reports (22.07.2020)
Published in Scientific reports (22.07.2020)
Get full text
Journal Article
Case report: Advice for schools on managing functional tic-like behaviours
Owen, Tamsin, Silva, Juliana, Grose, Claire, Bailey, Alice, Robinson, Sally, Anderson, Seonaid, Ludlow, Amanda, Sharp, Sarah, Toghill, Lucy, Hedderly, Tammy
Published in Frontiers in psychiatry (05.12.2022)
Published in Frontiers in psychiatry (05.12.2022)
Get full text
Journal Article
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
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, Wolf, Wendy A., Myers, Melanie, Vinks, Sander, Crosslin, David, Leppig, Kathy, Wicklund, Cathy, Chute, Christopher, Lynch, John, De Andrade, Mariza, Heit, John, Brilliant, Murray, Kitchner, Terrie, Ritchie, Marylyn, Persell, Stephen, Rasmussen-Torvik, Laura, McGregor, Tracy, Antommaria, Armand, Chiavacci, Rosetta, Ledbetter, David, Williams, Janet, Hartzler, Andrea, Vitek, Carolyn R. Rohrer, Frost, Norm, Ferryman, Kadija, Horowitz, Carol, Zinberg, Randi, 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, Bernhardt, Barbara, Schuetze, Scott, Everett, Jessica, Gornick, Michele Caroline, Wilfond, Ben, Tabor, Holly, Lemke, Amy A., Goddard, Katrina, East, Kelly, Barsh, Greg, Koenig, Barbara, Van Allen, Eliezer, Garber, Judy, Zawati, Ma’n, Lewis, Michelle, Savage, Sarah, Smith, Maureen, Roychowdhury, Sameek, Anan, Charlisse Caga, Hindorff, Lucia, Hutter, Carolyn, King, Rosalind, Li, Rongling, Lockhart, Nicole, McEwen, Jean, Scholes, Derek, Sun, Kathie, Burke, Wylie
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
Get full text
Journal Article
Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases
Crowley, T. Blaine, Campbell, Ian M., Liebling, Emily J., Lambert, Michele P., Levitt Katz, Lorraine E., Heimall, Jennifer, Bailey, Alice, McGinn, Daniel E., McDonald McGinn, Donna M., Sullivan, Kathleen E.
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
Get full text
Journal Article
Data use under the NIH GWAS data sharing policy and future directions
Paltoo, Dina N, Rodriguez, Laura Lyman, Feolo, Michael, Gillanders, Elizabeth, Ramos, Erin M, Rutter, Joni L, Sherry, Stephen, Wang, Vivian Ota, Bailey, Alice, Baker, Rebecca, Caulder, Mark, Harris, Emily L, Langlais, Kristofor, Leeds, Hilary, Luetkemeier, Erin, Paine, Taunton, Roomian, Tamar, Tryka, Kimberly, Patterson, Amy, Green, Eric D
Published in Nature genetics (01.09.2014)
Published in Nature genetics (01.09.2014)
Get full text
Journal Article
A novel decision aid to help plan for serious illness: a multisite randomized trial
Heyland, Daren K, Heyland, Rebecca, Bailey, Alice, Howard, Michelle
Published in CMAJ open (01.04.2020)
Published in CMAJ open (01.04.2020)
Get full text
Journal Article
Changes In Aortic Root Size Over Time In Patients with 22Q11.2 Deletion Syndrome
Pandolfi de Rinaldis, Chiara, Patel, Shrey, McDonald-McGinn, Donna M., CGC, Crowley, T. Blaine, Bailey, Alice, McGinn, Daniel E., Zackai, Elaine H., Wasserman, Melissa, Min, Jungwon, Edman, Sharon, Butensky, Adam M., Goldmuntz, Elizabeth
Published in Pediatrics (Evanston) (01.03.2021)
Published in Pediatrics (Evanston) (01.03.2021)
Get full text
Journal Article
Cardiac Evaluation of Patients With 22Q11.2 Duplications
Butensky, Adam M., Pandolfi de Rinaldis, Chiara, Patel, Shrey, Edman, Sharon, Bailey, Alice, McGinn, Daniel E., Zackai, Elaine H., Crowley, T. Blaine, McDonald-McGinn, Donna M., CGC, Min, Jungwon, Goldmuntz, Elizabeth
Published in Pediatrics (Evanston) (01.03.2021)
Published in Pediatrics (Evanston) (01.03.2021)
Get full text
Journal Article
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
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, Jerome-Majewska, Loydie A
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
Get full text
Journal Article
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression
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., Lambert, Michele P.
Published in Clinical genetics (01.01.2023)
Published in Clinical genetics (01.01.2023)
Get full text
Journal Article
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
de Rinaldis, Chiara Pandolfi, Butensky, Adam, Patel, Shrey, Edman, Sharon, Wasserman, Melissa, McGinn, Daniel E., Bailey, Alice, Zackai, Elaine H., Crowley, T. Blaine, McDonald-McGinn, Donna M., Min, Jungwon, Goldmuntz, Elizabeth
Published in Pediatric cardiology (01.10.2021)
Published in Pediatric cardiology (01.10.2021)
Get full text
Journal Article
Cardiac evaluation of patients with 22q11.2 duplication syndrome
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, Goldmuntz, Elizabeth
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
Get full text
Journal Article
Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety
Dou, Ying, Blaine Crowley, T, Gallagher, Sean, Bailey, Alice, McGinn, Daniel, Zackai, Elaine, Gur, Raquel E., McGinn, Donna McDonald, Sullivan, Kathleen E.
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
Get full text
Journal Article
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder
Wenger, Tara L, Kao, Charlly, McDonald-McGinn, Donna M, Zackai, Elaine H, Bailey, Alice, Schultz, Robert T, Morrow, Bernice E, Emanuel, Beverly S, Hakonarson, Hakon
Published in Scientific reports (19.01.2016)
Published in Scientific reports (19.01.2016)
Get full text
Journal Article
Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures
Kimia, Rotem, Elden, Lisa, Dailey, Julia, Kodavatiganti, Mallika, Crowley, T. Blaine, McGinn, Daniel E., Bailey, Alice, Zackai, Elaine H., McDonald-McGinn, Donna M., Jackson, Oksana A.
Published in International journal of pediatric otorhinolaryngology (01.11.2020)
Published in International journal of pediatric otorhinolaryngology (01.11.2020)
Get full text
Journal Article
Cover Image, Volume 176A, Number 10, October 2018
Campbell, Ian M., Sheppard, Sarah E., Crowley, T. Blaine, McGinn, Daniel E., Bailey, Alice, McGinn, Michael J., Unolt, Marta, Homans, Jelle F., Chen, Erin Y., Salmons, Harold I., Gaynor, J. William, Goldmuntz, Elizabeth, Jackson, Oksana A., Katz, Lorraine E., Mascarenhas, Maria R., Deeney, Vincent F. X., Castelein, René M., Zur, Karen B., Elden, Lisa, Kallish, Staci, Kolon, Thomas F., Hopkins, Sarah E., Chadehumbe, Madeline A., Lambert, Michele P., Forbes, Brian J., Moldenhauer, Julie S., Schindewolf, Erica M., Solot, Cynthia B., Moss, Edward M., Gur, Raquel E., Sullivan, Kathleen E., Emanuel, Beverly S., Zackai, Elaine H., McDonald‐McGinn, Donna M.
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
Get full text
Journal Article