Elizabeth Goldmuntz

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 24

Top Topics

Congenital Heart Disease

Magnetic Resonance

Duchenne Muscular Dystrophy

Top Venues

Circulation. Genomic and precision medicine

American journal of medical genetics. Part A

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Min Young Jang, Parth N Patel, Alexandre C Pereira, Jon A L Willcox, Alireza Haghighi, Angela C Tai, Shefali S Verma, Sarah U Morton, Joshua M Gorham, David M McKean, Steven R DePalma, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R Kaltman, Richard W Kim, Jane W Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D Gelb, George A Porter, Christine E Seidman, Jonathan G Seidman
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation. Genomic and precision medicine (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Min Young Jang, Parth N Patel, Alexandre C Pereira, Jon A L Willcox, Alireza Haghighi, Angela C Tai, Shefali S Verma, Sarah U Morton, Joshua M Gorham, David M McKean, Steven R DePalma, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R Kaltman, Richard W Kim, Jane W Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D Gelb, George A Porter, Christine E Seidman, Jonathan G Seidman
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation. Genomic and precision medicine (2023)
Matthew J Lewis, Alexander Hsieh, Lu Qiao, Renjie Tan, Brigitte Kazzi, Alexandra Channing, Emily L Griffin, Vaidehi Jobanputra, Jennifer Su, Chowdhury Shahryar, Lazaros K Kochilas, William Gaynor, Teresa Lee, Elizabeth Goldmuntz, Mark W Russell, Seema Mital, Martin Tristani-Firouzi, Martina Brueckner, Jane W Newburger, Yufeng Shen, Wendy K Chung
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circulation. Genomic and precision medicine (2023)
Mengyao Yu, Matthew Aguirre, Meiwen Jia, Ketrin Gjoni, Aldo Cordova-Palomera, Chad Munger, Dulguun Amgalan, X Rosa Ma, Alexandre da Costa Pereira, Catherine Tcheandjieu, Christine E Seidman, Jonathan G Seidman, Martin Tristani-Firouzi, Wendy K Chung, Elizabeth Goldmuntz, Deepak Srivastava, Ruth J F Loos, Nathalie Chami, Heather J Cordell, Martina Dreßen, Bertram Mueller-Myhsok, Harald Lahm, Markus Krane, Katherine S Pollard, Jesse M Engreitz, Sarah A Gagliano Taliun, Bruce D Gelb, James R Priest
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circulation. Genomic and precision medicine (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Sarah U Morton, Alexandre da Costa Pereira, Daniel Quiat, Felix Richter, Alexander Kitaygorodsky, Jacob Hagen, Daniel Bernstein, Martina Brueckner, Elizabeth Goldmuntz, Richard W Kim, Richard P Lifton, George A Porter, Martin Tristani-Firouzi, Wendy K Chung, Amy E Roberts, Bruce D Gelb, Yufeng Shen, Jane W Newburger, Jonathan G Seidman, Christine E Seidman
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation. Genomic and precision medicine 15 (2) (2022)
Hayley A Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S Emanuel, Douglas Ryba, James William Gaynor, Elaine H Zackai, Hakon Hakonarson, Donna M McDonald-McGinn
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes 14 (1) (2022)
Hayley A Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S Emanuel, Douglas Ryba, James William Gaynor, Elaine H Zackai, Hakon Hakonarson, Donna M McDonald-McGinn
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes 14 (1) (2022)
Hayley A Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S Emanuel, Douglas Ryba, James William Gaynor, Elaine H Zackai, Hakon Hakonarson, Donna M McDonald-McGinn
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes 14 (1) (2022)
Elizabeth Goldmuntz, Laura E Mitchell
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox. Circulation. Genomic and precision medicine 15 (4) (2022)
Hayley A Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S Emanuel, Douglas Ryba, James William Gaynor, Elaine H Zackai, Hakon Hakonarson, Donna M McDonald-McGinn
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes 14 (1) (2022)
Doris Skoric-Milosavljevic, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia Ilse Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Qcm Barge-Schaapveld, Stephen Brown, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel van Duijvenboden, Regina Bokenkamp, Martina Müller-Nuraysid, Hubert W Vliegen, Thelma C Konings, Joost P van Melle, Arie van Dijk, Roland Rj van Kimmenade, Jolien W Roos-Hesselink, Gertjan Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, G Mark Lathrop, Hans Markus Munter, Ammar Al Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan Herman Veldink, Leonard H van den Berg, Sylvia M Evans, Marcelo Aguiar Nobrega, Ivy Aneas, Milena Radivojkov-Blagojevic, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, M Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto Jorrit Bouma, Marie-A Chaix, Jennie Kline, Anne Susan Bassett, Gregor U Andelfinger, Roel L F van der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard D Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circulation research (2021)
Elizabeth Goldmuntz, Zihe Zheng, Judy A Shea
Reported practice patterns in the ambulatory care setting for patients with CHD. Cardiology in the young (2021)
Arun Sharma, Lauren K Wasson, Jon Al Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, null null
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. eLife 9 (2020)
Yun Rose Li, Joseph T Glessner, Bradley P Coe, Jin Li, Maedeh Mohebnasab, Xiao Chang, John Connolly, Charlly Kao, Zhi Wei, Jonathan Bradfield, Cecilia Kim, Cuiping Hou, Munir Khan, Frank Mentch, Haijun Qiu, Marina Bakay, Christopher J Cardinale, Maria Lemma, Debra Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, Shanell Harrison, George Otieno, Alexandria Thomas, Fengxiang Wang, Rosetta Chiavacci, Lawrence Wu, Dexter Hadley, Elizabeth Goldmuntz, Josephine Elia, John Maris, Robert Grundmeier, Marcella Devoto, Brendan Keating, Michael E March, Renata Pellagrino, Struan F A Grant, Patrick M A Sleiman, Mingyao Li, Evan E Eichler, Hakon H Hakonarson
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nature communications 11 (1) (2020)
Felix Richter, Sarah U Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K Wasson, Kathleen M Chen, Jian Zhou, Hongjian Qi, Nihir Patel, Steven R DePalma, Michael Parfenov, Jason Homsy, Joshua M Gorham, Kathryn B Manheimer, Matthew Velinder, Andrew Farrell, Gabor T Marth, Eric E Schadt, Jonathan R Kaltman, Jane W Newburger, Alessandro Giardini, Elizabeth Goldmuntz, Martina Brueckner, Richard Kim, George A Porter, Daniel Bernstein, Wendy K Chung, Deepak Srivastava, Martin Tristani-Firouzi, Olga G Troyanskaya, Diane E Dickel, Yufeng Shen, Jonathan G Seidman, Christine E Seidman, Bruce D Gelb
Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature genetics 52 (8) (2020)
Alyssa L Ritter, Petra Werner, Brande Latney, Bryon L Krock, Avni Santani, Emma C Bedoukian, Cara M Skraban, Matthew A Deardorff, Elizabeth Goldmuntz
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. American journal of medical genetics. Part A 182 (6) (2020)
Elizabeth Goldmuntz
22q11.2 deletion syndrome and congenital heart disease. American journal of medical genetics. Part C, Seminars in medical genetics 184 (1) (2020)
Thanh T Hoang, Paulo Henrique Manso, Sharon Edman, Laura Mercer-Rosa, Laura E Mitchell, Anshuman Sewda, Michael D Swartz, Mark A Fogel, A J Agopian, Elizabeth Goldmuntz
Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 21 (1) (2019)
A J Agopian, Thanh T Hoang, Elizabeth Goldmuntz, Thanh T Hoang, Fadi I Musfee, Laura E Mitchell, null null
X-chromosome association studies of congenital heart defects. American journal of medical genetics. Part A 182 (1) (2019)
W Scott Watkins, E Javier Hernandez, Sergiusz Wesołowski, Brent W Bisgrove, Ryan T Sunderland, Edwin Lin, Gordon Lemmon, Bradley L Demarest, Thomas A Miller, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Christine E Seidman, Yufeng Shen, H Joseph Yostl, Mark Yandell, Martin Tristani-Firouzi
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature communications 10 (1) (2019)