Molecular genetics of 22q11.2 deletion syndrome
Morrow, Bernice E., McDonald‐McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
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Journal Article
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias
Lambert, Michele P., Arulselvan, Abinaya, Schott, Amanda, Markham, Stephen J., Crowley, Terrance B., 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)
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Journal Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers
Unolt, Marta, Versacci, Paolo, Anaclerio, Silvia, Lambiase, Caterina, Calcagni, Giulio, Trezzi, Matteo, Carotti, Adriano, Crowley, Terrence Blaine, Zackai, Elaine H., Goldmuntz, Elizabeth, Gaynor, James William, Digilio, Maria Cristina, McDonald‐McGinn, Donna M., Marino, Bruno
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
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Journal Article
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation
Goldmuntz, Elizabeth, Bassett, Anne S., Boot, Erik, Marino, Bruno, Moldenhauer, Julie S., Óskarsdóttir, Sólveig, Putotto, Carolina, Rychik, Jack, Schindewolf, Erica, McDonald‐McGinn, Donna M., Blagowidow, Natalie
Published in Prenatal diagnosis (01.06.2024)
Published in Prenatal diagnosis (01.06.2024)
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Journal Article
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome
Gaiser, Kimberly B., Schindewolf, Erica M., Conway, Laura J., Coleman, Beverly G., Oliver, Edward R., Rychik, Jack R., Debari, Suzanne E., Mcdonald‐Mcginn, Donna M., Zackai, Elaine H., Moldenhauer, Julie S., Gebb, Juliana S.
Published in Prenatal diagnosis (01.06.2024)
Published in Prenatal diagnosis (01.06.2024)
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Journal Article
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome
Schindewolf, Erica, Khalek, Nahla, Johnson, Mark P., Gebb, Juliana, Coleman, Beverly, Crowley, Terrence Blaine, Zackai, Elaine H., McDonald‐McGinn, Donna M., Moldenhauer, Julie S.
Published in American journal of medical genetics. Part A (01.08.2018)
Published in American journal of medical genetics. Part A (01.08.2018)
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Journal Article
Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
Racedo, Silvia E., McDonald-McGinn, Donna M., Chung, Jonathan H., Goldmuntz, Elizabeth, Zackai, Elaine, Emanuel, Beverly S., Zhou, Bin, Funke, Birgit, Morrow, Bernice E.
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Journal Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Palmer, Lisa D., Butcher, Nancy J., Boot, Erik, Hodgkinson, Kathleen A., Heung, Tracy, Chow, Eva W. C., Guna, Alina, Crowley, T. Blaine, Zackai, Elaine, McDonald‐McGinn, Donna M., Bassett, Anne S.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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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)
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Journal Article
22q and two: 22q11.2 deletion syndrome and coexisting conditions
Cohen, Jennifer L., Crowley, Terrence B., McGinn, Daniel E., McDougall, Carey, Unolt, Marta, Lambert, Michele P., 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)
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Journal Article
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
Guo, Tingwei, Chung, Jonathan H., Wang, Tao, McDonald-McGinn, Donna M., Kates, Wendy R., Hawuła, Wanda, Coleman, Karlene, Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Chromatin Modifications in 22q11.2 Deletion Syndrome
Zhang, Zhe, Shi, LiHua, Song, Li, Maurer, Kelly, Zhao, Xue, Zackai, Elaine H., McGinn, Daniel E., Crowley, T. Blaine, McGinn, Donna M. McDonald, Sullivan, Kathleen E.
Published in Journal of clinical immunology (01.11.2021)
Published in Journal of clinical immunology (01.11.2021)
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Journal Article
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome
Solot, Cynthia B., Moore, Tyler M., Crowley, Terrence Blaine, Gerdes, Marsha, Moss, Edward, McGinn, Daniel E., Emanuel, Beverly S., Zackai, Elaine H., Gallagher, Sean, Calkins, Monica E., Ruparel, Kosha, Gur, Ruben C., McDonald‐McGinn, Donna M., Gur, Raquel E.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2020)
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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)
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Journal Article
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome
Van Batavia, Jason P., Crowley, Terrence B., Burrows, Evanette, Zackai, Elaine H., Sanna‐Cherchi, Simone, McDonald‐McGinn, Donna M., Kolon, Thomas F.
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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Journal Article
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence
Wenger, Tara L., Perkins, Jonathan, Parish‐Morris, Julia, Hing, Anne V., Chen, Maida L., Cielo, Christopher M., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Zackai, Elaine, McDonald‐McGinn, Donna M., Taylor, Jesse A., Jackson, Oksana, Sie, Kathleen, Bly, Randall, Dahl, John, Evans, Kelly N.
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review
Homans, Jelle F., Tromp, Isabel N., Colo, Dino, Schlösser, Tom P. C., Kruyt, Moyo C., Deeney, Vincent F. X., Crowley, Terrence B., McDonald‐McGinn, Donna M., Castelein, René 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)
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Journal Article
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome
Gao, Lucy, Tang, Sunny X., Yi, James J., McDonald‐McGinn, Donna M., Zackai, Elaine H., Emanuel, Beverly S., Gur, Ruben C., Calkins, Monica E., Gur, Raquel E.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2018)
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Journal Article