arrow
返回
E

Elizabeth Goldmuntz

children's hospital of philadelphia

68H指数
471论文数
1.8W被引数
收录论文 103
发表时间
A novel spliceosomopathy caused by de novo SF3B3 variants一种由新发SF3B3基因变异引起的全新剪接体病
err2026-02-19
err0
errOAAI
errLuciana Musante; Pavel Janos; Giulia Pianigiani; Sara Cappelli; Alessandra Longo; Carolina Alves; Eva MC Schwaibold; Matias Wagner; Gregory Costain; Run Fridriksdottir; Kari Stefansson; Patrick Sulem; Klaske D Lichtenbelt; Ellen van Binsbergen; Richard H van Jaarsveld; Alfredo Brusco; Lisa Pavinato; Elisa Biamino; Alessandra Spano; Clara C Hildebrandt; Yee-Ming Chan; Emily Groopman; Michal Berkenstadt; Daniel Koboldt; Rachel Williamson; Han G Brunner; Lisenka ELM Vissers; Pernille M Torring; Qin Hao; Bruce D Gelb; Elizabeth Goldmuntz; Kristen Reed; Emma C Bedoukian; Davide Vecchio; Emanuela Salzano; Maria Piccione; Caterina Zanus; Catia Mio; Evan E Eichler; Tianyun Wang; Wesley G Patterson; Kameryn M Butler; Mattie Piotrowski; Sandra Mercier; Benjamin Cogné; Ingrid M. Wentzensen; Emanuele Buratti; Alessandra Magistrato; Flavio Faletra
err分享
err收藏
Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease利用机器学习方法推断先天性心脏病青少年及青年人群的神经认知测试评分
err2026-02-06
err0
errOAAI
errMohammad Arafat Hussain; Sheng He; Heather R. Adams; Evdokia Anagnoustou; David C. Bellinger; Martina Brueckner; Wendy K. Chung; John Cleveland; Bruce D. Gelb; Elizabeth Goldmuntz; Donald J. Hagler; Hao Huang; Patrick McQuillen; Thomas A. Miller; Ami Norris-Brilliant; George A. Porter; Nina Thomas; Madalina E. Tivarus; Duan Xu; Yufeng Shen; Jane W. Newburger; P. Ellen Grant; Sarah U. Morton; Yangming Ou
err分享
err收藏
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions22q11.22-23远端染色体缺失个体中先天性心脏病的发生率及谱系
err2025-12-01
err0
errOAAI
errNelson, Tanner J.; McGinn, Daniel E.; Crowley, T. Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S.; Zackai, Elaine H.; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S.; Morrow, Bernice E.; McDonald-McGinn, Donna M.
err分享
err收藏
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery基因组测序对于预测先天性心脏手术后结果至关重要。
err2025-07-10
err0
errOAAI
errW. Scott Watkins; Edgar J. Hernandez; Thomas A. Miller; Nathan R. Blue; Raquel Mae Zimmerman; Eric R. Griffiths; Erwin Frise; Daniel Bernstein; Marko T. Boskovski; Martina Brueckner; Wendy K. Chung; J. William Gaynor; Bruce D. Gelb; Elizabeth Goldmuntz; Peter J. Gruber; Jane W. Newburger; Amy E. Roberts; Sarah U. Morton; John E. Mayer; Christine E. Seidman; Jonathan G. Seidman; Yufeng Shen; Michael Wagner; H. Joseph Yost; Mark Yandell; Martin Tristani-Firouzi
err分享
err收藏
Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic TelangiectasiaGDF2相关遗传性出血性毛细血管扩张症儿科队列的临床表型
err2025-05-12
err0
errOAAI
errOliver, Owen; Britt, Allison D.; Borst, Alexandra J.; Goldmuntz, Elizabeth; Bakeer, Nihal; Lang, Shih-shan; Fuller, Stephanie; Vossough, Arastoo; Beslow, Lauren A.
err分享
err收藏
A pilot study of device-assessed physical activity and ecological momentary assessment among adolescent and young adult survivors of childhood cancer
err2025-02-03
err1
PREAI
errKing-Dowling, Sara; Harris, Sheereen; Daniel, Lauren C.; Kwan, Matthew Y. W.; Ginsberg, Jillp P.; Goldmuntz, Elizabeth; Szalda, Dava; Schwartz, Lisa A.
err分享
err收藏
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact非编码变异和脑沟模式在先天性心脏病中的作用:机器学习预测功能影响
err2025-02-01
err1
errOAAI
errMondragon-Estrada, Enrique; Newburger, Jane W.; Depalma, Steven R.; Brueckner, Martina; Cleveland, John; Chung, Wendy K.; Gelb, Bruce D.; Goldmuntz, Elizabeth; Hagler Jr, Donald J.; Mcquillen, Patrick; Miller, Thomas A.; Panigrahy, Ashok; Porter Jr, George A.; Roberts, Amy E.; Rollins, Caitlin K.; Russell, Mark W.; Tristani-Firouzi, Martin; Grant, P. Ellen; Im, Kiho; Morton, Sarah U.
err分享
err收藏
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease基于图的原型逆投影方法用于先天性心脏病皮质沟回模式异常的识别
err2025-02-01
err0
PREAI
errKwon, Hyeokjin; Son, Seungyeon; Morton, Sarah U.; Wypij, David; Clevelandh, John; Rollinsi, Caitlin K.; Huangj, Hao; Goldmuntz, Elizabeth; Panigrahy, Ashok; Thomas, Nina H.; Chung, Wendy K.; Anagnostou, Evdokia; Norris-Brilliant, Ami; Gelb, Bruce D.; Mcquillen, Patrick; Porter Jr, George A.; Tristani-Firouzi, Martin; Russellv, Mark W.; Roberts, Amy E.; Newburgere, Jane W.; Grant, P. Ellen; Lee, Jong-Min
err分享
err收藏
Cardiovascular magnetic resonance imaging traits associated with adverse right ventricular remodeling in repaired tetralogy of Fallot: A Single Center Outcomes Using cardiovascular magnetic resonance in Tetralogy of Fallot study与法洛四联症修复术后不良右心室重塑相关的心血管磁共振成像特征:法洛四联症心血管磁共振研究中的单中心结果
err2025-02-01
err0
errOAAI
errThompson, Elizabeth W.; Dong, Ningiun J.; Kim, Jin-seo; Bhattaru, Abhijit; Vu, Phuong; Hu, Fengling; Shinohara, Russell T.; Swago, Sophia; Donnelly, Elizabeth; Zhang, Xuemei; Loth, Annefleur; Vuthuri, Lipika; Lanzilotta, Kristen; Whitehead, Kevin K.; Duda, Jeffrey; Gee, James; Almasy, Laura; Goldmuntz, Elizabeth; Fogel, Mark A.; Witschey, Walter R.
err分享
err收藏
Right Ventricular Remodeling During the First Decade After Tetralogy of Fallot Repair: An Echocardiographic Study法洛四联症修复术后第一十年间右心室重构:一项超声心动图研究
err2024-11-12
err0
PREAI
errGalan, Jose; Jones, Andrea; Numata, Ryusuke; Mondal, Antara; Thomas, Angeli; Wang, Yan; DiLorenzo, Michael; Zavez, Alexis; Goldmuntz, Elizabeth; Mercer-Rosa, Laura
err分享
err收藏
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
err2024-03-01
err2
PREAI
errFreud, Lindsay R.; Galloway, Stephanie; Crowley, Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kazmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl -Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Buil, Ana Achon; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; -Haug, Louise Wilkins; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Grati, Francesca Romana; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M.
err分享
err收藏
Association of genetic and sulcal traits with executive function in congenital heart disease
err2023-11-27
err5
errOAAI
errMaleyeff, Lara; Newburger, Jane W.; Wypij, David; Thomas, Nina H.; Anagnoustou, Evdokia; Brueckner, Martina; Chung, Wendy K.; Cleveland, John; Cunningham, Sean; Gelb, Bruce D.; Goldmuntz, Elizabeth; Hagler, Donald J., Jr.; Huang, Hao; King, Eileen; McQuillen, Patrick; Miller, Thomas A.; Norris-Brilliant, Ami; Porter, George A., Jr.; Roberts, Amy E.; Grant, P. Ellen; Im, Kiho; Morton, Sarah U.
err分享
err收藏
Cardiac Magnetic Resonance Ventricular Function and Hemodynamic Multivariable Model Predictors of Exercise Performance in Tetralogy of Fallot Using Machine Learning and Multivariable Modelling: A Substudy of the Single Center Cardiac Magnetic Resonance Outcomes Registry-Tetralogy of Fallot
err2023-11-07
err0
PREAI
errFogel, Mark A.; Reddy, Keerthi; Mahmood, Abdullah; Zhang, Xuemi; Ampah, Steve; Faerber, Jen; Goldmuntz, Elizabeth; Harris, Matthew; Biko, David; Partington, Sara; Paridon, Stephen
err分享
err收藏
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease遗传和临床变量协同作用,影响单心室心脏病患儿的神经发育结果
err2023-09-27
err0
errOAAI
errMiller, Thomas A.; Hernandez, Edgar J.; Gaynor, J. William; Russell, Mark W.; Newburger, Jane W.; Chung, Wendy; Goldmuntz, Elizabeth; Cnota, James F.; Zyblewski, Sinai C.; Mahle, William T.; Zak, Victor; Ravishankar, Chitra; Kaltman, Jonathan R.; Mccrindle, Brian W.; Clarke, Shanelle; Votava-Smith, Jodie K.; Graham, Eric M.; Seed, Mike; Rudd, Nancy; Bernstein, Daniel; Lee, Teresa M.; Yandell, Mark; Tristani-Firouzi, Martin
err分享
err收藏
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease
err2023-06-01
err4
errOAAI
errJang, Min Young; Patel, Parth N.; Pereira, Alexandre C.; Willcox, Jon A. L.; Haghighi, Alireza; Tai, Angela C.; Ito, Kaoru; Morton, Sarah U.; Gorham, Joshua M.; McKean, David M.; DePalma, Steven R.; Bernstein, Daniel; Brueckner, Martina; Chung, Wendy K.; Giardini, Alessandro; Goldmuntz, Elizabeth; Kaltman, Jonathan R.; Kim, Richard; Newburger, Jane W.; Shen, Yufeng; Srivastava, Deepak; Tristani-Firouzi, Martin; Gelb, Bruce D.; Porter, Jr George A.; Seidman, Christine E.; Seidman, Jonathan G.
err分享
err收藏
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes
err2023-06-01
err3
errOAAI
errYu, Mengyao; Aguirre, Matthew; Jia, Meiwen; Gjoni, Ketrin; Cordova-Palomera, Aldo; Munger, Chad; Amgalan, Dulguun; Ma, X. Rosa; Pereira, Alexandre; Tcheandjieu, Catherine; Seidman, Christine; Seidman, Jonathan; Tristani-Firouzi, Martin; Chung, Wendy; Goldmuntz, Elizabeth; Srivastava, Deepak; Loos, Ruth J. F.; Chami, Nathalie; Cordell, Heather; Dressen, Martina; Mueller-Myhsok, Bertram; Lahm, Harald; Krane, Markus; Pollard, Katherine S.; Engreitz, Jesse M.; Taliun, Sarah Gagliano A.; Gelb, Bruce D.; Priest, James R.
err分享
err收藏
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
err2023-04-01
err18
errOAAI
errGriffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rachel; King, Eileen C.; Cnota, James F.; Kim, Richard W.; Porter Jr, George A.; Brueckner, Martina; Seidman, Christine E.; Shen, Yufeng; Gelb, Bruce D.; Goldmuntz, Elizabeth; Newburger, Jane W.; Roberts, Amy E.; Chung, Wendy K.
err分享
err收藏