NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
McBride, Kim L., Riley, Maurisa F., Zender, Gloria A., Fitzgerald-Butt, Sara M., Towbin, Jeffrey A., Belmont, John W., Cole, Susan E.
Published in Human molecular genetics (15.09.2008)
Published in Human molecular genetics (15.09.2008)
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20
Hanchard, Neil A, Swaminathan, Shanker, Bucasas, Kristine, Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid S, Wang, Xueqing, Lewin, Mark, Towbin, Jeffrey A, D'Alessandro, Lisa C A, Morris, Shaine A, Dreyer, William, Denfield, Susan, Ayres, Nancy A, Franklin, Wayne J, Justino, Henri, Lantin-Hermoso, M Regina, Ocampo, Elena C, Santos, Alexia B, Parekh, Dhaval, Moodie, Douglas, Jeewa, Aamir, Lawrence, Emily, Allen, Hugh D, Penny, Daniel J, Fraser, Charles D, Lupski, James R, Popoola, Mojisola, Wadhwa, Lalita, Brook, J David, Bu'Lock, Frances A, Bhattacharya, Shoumo, Lalani, Seema R, Zender, Gloria A, Fitzgerald-Butt, Sara M, Bowman, Jessica, Corsmeier, Don, White, Peter, Lecerf, Kelsey, Zapata, Gladys, Hernandez, Patricia, Goodship, Judith A, Garg, Vidu, Keavney, Bernard D, Leal, Suzanne M, Cordell, Heather J, Belmont, John W, McBride, Kim L
Published in Human molecular genetics (01.06.2016)
Published in Human molecular genetics (01.06.2016)
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Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)
MCBRIDE, Kim L, ZENDER, Gloria A, FITZGERALD-BUTT, Sara M, KOEHLER, Daniel, MENESSES-DIAZ, Andres, FERNBACH, Susan, LEE, Kwanghyuk, TOWBIN, Jeffrey A, LEAL, Suzanne, BELMONT, John W
Published in European journal of human genetics : EJHG (01.06.2009)
Published in European journal of human genetics : EJHG (01.06.2009)
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Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events
Hanchard, Neil A., Umana, Luis A., D'Alessandro, Lisa, Azamian, Mahshid, Poopola, Mojisola, Morris, Shaine A., Fernbach, Susan, Lalani, Seema R., Towbin, Jeffrey A., Zender, Gloria A., Fitzgerald‐Butt, Sara, Garg, Vidu, Bowman, Jessica, Zapata, Gladys, Hernandez, Patricia, Arrington, Cammon B., Furthner, Dieter, Prakash, Siddharth K., Bowles, Neil E., McBride, Kim L., Belmont, John W.
Published in American journal of medical genetics. Part A (01.08.2017)
Published in American journal of medical genetics. Part A (01.08.2017)
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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects
McBride, Kim L, Zender, Gloria A, Fitzgerald-Butt, Sara M, Seagraves, Nikki J, Fernbach, Susan D, Zapata, Gladys, Lewin, Mark, Towbin, Jeffrey A, Belmont, John W
Published in Birth defects research. A Clinical and molecular teratology (01.03.2011)
Published in Birth defects research. A Clinical and molecular teratology (01.03.2011)
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Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption
Becknell, Brian, Zender, Gloria A., Houston, Ronald, Baker, Peter B., McBride, Kim L., Luo, Wentian, Hains, David S., Borza, Dorin-Bogdan, Schwaderer, Andrew L.
Published in Kidney international (01.01.2011)
Published in Kidney international (01.01.2011)
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