22q11.2 deletion syndrome and congenital heart disease
Goldmuntz, Elizabeth
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2020)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
Glessner, Joseph T, Bick, Alexander G, Ito, Kaoru, Homsy, Jason G, Rodriguez-Murillo, Laura, Fromer, Menachem, Mazaika, Erica, Vardarajan, Badri, Italia, Michael, Leipzig, Jeremy, DePalma, Steven R, Golhar, Ryan, Sanders, Stephan J, Yamrom, Boris, Ronemus, Michael, Iossifov, Ivan, Willsey, A Jeremy, State, Matthew W, Kaltman, Jonathan R, White, Peter S, Shen, Yufeng, Warburton, Dorothy, Brueckner, Martina, Seidman, Christine, Goldmuntz, Elizabeth, Gelb, Bruce D, Lifton, Richard, Seidman, Jonathan, Hakonarson, Hakon, Chung, Wendy K
Published in Circulation research (24.10.2014)
Published in Circulation research (24.10.2014)
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Journal Article
CANOES: detecting rare copy number variants from whole exome sequencing data
Backenroth, Daniel, Homsy, Jason, Murillo, Laura R, Glessner, Joe, Lin, Edwin, Brueckner, Martina, Lifton, Richard, Goldmuntz, Elizabeth, Chung, Wendy K, Shen, Yufeng
Published in Nucleic acids research (08.07.2014)
Published in Nucleic acids research (08.07.2014)
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Journal Article
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Watkins, W. Scott, Hernandez, E. Javier, Wesolowski, Sergiusz, Bisgrove, Brent W., Sunderland, Ryan T., Lin, Edwin, Lemmon, Gordon, Demarest, Bradley L., Miller, Thomas A., Bernstein, Daniel, Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Newburger, Jane W., Seidman, Christine E., Shen, Yufeng, Yost, H. Joseph, Yandell, Mark, Tristani-Firouzi, Martin
Published in Nature communications (17.10.2019)
Published in Nature communications (17.10.2019)
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Journal Article
The Congenital Heart Disease Genetic Network Study: Cohort description
Hoang, Thanh T, Goldmuntz, Elizabeth, Roberts, Amy E, Chung, Wendy K, Kline, Jennie K, Deanfield, John E, Giardini, Alessandro, Aleman, Adolfo, Gelb, Bruce D, Mac Neal, Meghan, Porter, Jr, George A, Kim, Richard, Brueckner, Martina, Lifton, Richard P, Edman, Sharon, Woyciechowski, Stacy, Mitchell, Laura E, Agopian, A J
Published in PloS one (19.01.2018)
Published in PloS one (19.01.2018)
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Tricuspid Annular Plane Systolic Excursion in the Assessment of Right Ventricular Function in Children and Adolescents after Repair of Tetralogy of Fallot
Mercer-Rosa, Laura, MD, MSCE, Parnell, Aimee, MD, MSCE, Forfia, Paul R., MD, Yang, Wei, PhD, Goldmuntz, Elizabeth, MD, Kawut, Steven M., MD, MS
Published in Journal of the American Society of Echocardiography (01.11.2013)
Published in Journal of the American Society of Echocardiography (01.11.2013)
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Journal Article
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
Mercer-Rosa, Laura, MD, MSCE, Pinto, Nelangi, MD, Yang, Wei, PhD, Tanel, Ronn, MD, Goldmuntz, Elizabeth, MD
Published in The Journal of thoracic and cardiovascular surgery (01.10.2013)
Published in The Journal of thoracic and cardiovascular surgery (01.10.2013)
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Journal Article
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
Li, You, Yagi, Hisato, Onuoha, Ezenwa Obi, Damerla, Rama Rao, Francis, Richard, Furutani, Yoshiyuki, Tariq, Muhammad, King, Stephen M, Hendricks, Gregory, Cui, Cheng, Saydmohammed, Manush, Lee, Dong Min, Zahid, Maliha, Sami, Iman, Leatherbury, Linda, Pazour, Gregory J, Ware, Stephanie M, Nakanishi, Toshio, Goldmuntz, Elizabeth, Tsang, Michael, Lo, Cecilia W
Published in PLoS genetics (26.02.2016)
Published in PLoS genetics (26.02.2016)
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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
Trends in Pulmonary Valve Replacement in Children and Adults With Tetralogy of Fallot
O’Byrne, Michael L., MD, MSCE, Glatz, Andrew C., MD, MSCE, Mercer-Rosa, Laura, MD, MSCE, Gillespie, Matthew J., MD, Dori, Yoav, MD, PhD, Goldmuntz, Elizabeth, MD, Kawut, Steven, MD, MS, Rome, Jonathan J., MD
Published in The American journal of cardiology (01.01.2015)
Published in The American journal of cardiology (01.01.2015)
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Journal Article
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles
Martin-Trujillo, Alejandro, Patel, Nihir, Richter, Felix, Jadhav, Bharati, Garg, Paras, Morton, Sarah U, McKean, David M, DePalma, Steven R, Goldmuntz, Elizabeth, Gruber, Dorota, Kim, Richard, Newburger, Jane W, Porter, Jr, George A, Giardini, Alessandro, Bernstein, Daniel, Tristani-Firouzi, Martin, Seidman, Jonathan G, Seidman, Christine E, Chung, Wendy K, Gelb, Bruce D, Sharp, Andrew J
Published in PLoS genetics (20.11.2020)
Published in PLoS genetics (20.11.2020)
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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
22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch
O’Byrne, Michael L., MD, Yang, Wei, PhD, Mercer-Rosa, Laura, MD, MSCE, Parnell, Aimee S., MD, MSCE, Oster, Matthew E., MD, MPH, Levenbrown, Yosef, DO, Tanel, Ronn E., MD, Goldmuntz, Elizabeth, MD
Published in The Journal of thoracic and cardiovascular surgery (01.10.2014)
Published in The Journal of thoracic and cardiovascular surgery (01.10.2014)
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Journal Article
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure
Vandewouw, Marlee M., Norris-Brilliant, Ami, Rahman, Anum, Assimopoulos, Stephania, Morton, Sarah U., Kushki, Azadeh, Cunningham, Sean, King, Eileen, Goldmuntz, Elizabeth, Miller, Thomas A., Thomas, Nina H., Adams, Heather R., Cleveland, John, Cnota, James F., Ellen Grant, P, Goldberg, Caren S., Huang, Hao, Li, Jennifer S., McQuillen, Patrick, Porter, George A., Roberts, Amy E., Russell, Mark W., Seidman, Christine E., Tivarus, Madalina E., Chung, Wendy K., Hagler, Donald J., Newburger, Jane W., Panigrahy, Ashok, Lerch, Jason P, Gelb, Bruce D., Anagnostou, Evdokia
Published in NeuroImage (Orlando, Fla.) (15.08.2024)
Published in NeuroImage (Orlando, Fla.) (15.08.2024)
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Journal Article
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects
Sewda, Anshuman, Agopian, A.J, Goldmuntz, Elizabeth, Hakonarson, Hakon, Morrow, Bernice E, Musfee, Fadi, Taylor, Deanne, Mitchell, Laura E, Winlaw, David Scott
Published in PloS one (09.06.2020)
Published in PloS one (09.06.2020)
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Journal Article
Automated Cmr-based Measurements Are Predictive of Pulmonic Valve Replacement in Repaired Tetralogy of Fallot
Thompson, Elizabeth, Kim, Jin-seo, Bhattaru, Abhijit, Vu, Phuong, Swago, Sophia, Donnelly, Elizabeth, zhang, Xuemei, Vuthuri, Lipika, Lanzilotta, Kristen, Loth, Annefleur, Whitehead, Kevin, Duda, Jeffrey, Gee, James, Almasy, Laura, Goldmuntz, Elizabeth, Fogel, Mark, Witschey, Walter
Published in Journal of cardiovascular magnetic resonance (2024)
Published in Journal of cardiovascular magnetic resonance (2024)
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Journal Article
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Sharma, Arun, Wasson, Lauren K, Willcox, Jon Al, Morton, Sarah U, Gorham, Joshua M, DeLaughter, Daniel M, Neyazi, Meraj, Schmid, Manuel, Agarwal, Radhika, Jang, Min Young, Toepfer, Christopher N, Ward, Tarsha, Kim, Yuri, Pereira, Alexandre C, DePalma, Steven R, Tai, Angela, Kim, Seongwon, Conner, David, Bernstein, Daniel, Gelb, Bruce D, Chung, Wendy K, Goldmuntz, Elizabeth, Porter, George, Tristani-Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G, Seidman, Christine E
Published in eLife (15.10.2020)
Published in eLife (15.10.2020)
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Journal Article
The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect
Kaplinski, Michelle, Taylor, Deanne, Mitchell, Laura E, Hammond, Dorothy A, Goldmuntz, Elizabeth, Agopian, A J
Published in PloS one (29.05.2019)
Published in PloS one (29.05.2019)
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