Bibliotecas PUC-SP - Busca Integrada

The Integral Formation of Catholic School Teachers

Por Amy E. Roberts, Gerard O’Shea
Publicado no Religions (2022-12-01)

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

Por Daniel Quiat, Leora Witkowski, Hana Zouk, Kevin P. Daly, Amy E. Roberts
Publicado no Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2020-06-01)

The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease

Por Emily M. Bucholz, Sarah U. Morton, Erin Madriago, Amy E. Roberts, Christina Ronai
Publicado no Journal of Cardiovascular Development and Disease (2024-05-01)

Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene

Por Rong Li, Amanda Baskfield, Yongshun Lin, Jeanette Beers, Jizhong Zou, Chengyu Liu, Fabrice Jaffré, Amy E. Roberts, Elizabeth A. Ottinger, Maria I. Kontaridis, Wei Zheng
Publicado no Stem Cell Research (2019-01-01)

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

Por Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui Chen
Publicado no Children (2021-02-01)

Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure

Por David C. Bellinger, Christopher G. Watson, Michael J. Rivkin, Richard L. Robertson, Amy E. Roberts, Christian Stopp, Carolyn Dunbar‐Masterson, Dana Bernson, David R. DeMaso, David Wypij, Jane W. Newburger
Publicado no Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2015-12-01)

The Congenital Heart Disease Genetic Network Study: Cohort description.

Por Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
Publicado no PLoS ONE (2018-01-01)

Dissecting spatio‐temporal protein networks driving human heart development and related disorders

Por Kasper Lage, Kjeld Møllgård, Steven Greenway, Hiroko Wakimoto, Joshua M Gorham, Christopher T Workman, Eske Bendsen, Niclas T Hansen, Olga Rigina, Francisco S Roque, Cornelia Wiese, Vincent M Christoffels, Amy E Roberts, Leslie B Smoot, William T Pu, Patricia K Donahoe, Niels Tommerup, Søren Brunak, Christine E Seidman, Jonathan G Seidman, Lars A Larsen
Publicado no Molecular Systems Biology (2010-06-01)

Association of genetic and sulcal traits with executive function in congenital heart disease

Por Lara Maleyeff, Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K. Chung, John Cleveland, Sean Cunningham, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J Hagler Jr, Hao Huang, Eileen King, Patrick McQuillen, Thomas A. Miller, Ami Norris‐Brilliant, George A. Porter Jr, Amy E. Roberts, P. Ellen Grant, Kiho Im, Sarah U. Morton
Publicado no Annals of Clinical and Translational Neurology (2024-02-01)

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

Por Enrique Mondragon-Estrada, Jane W. Newburger, Steven R. DePalma, Martina Brueckner, John Cleveland, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J. Hagler, Jr., Hao Huang, Patrick McQuillen, Thomas A. Miller, Ashok Panigrahy, George A. Porter, Jr., Amy E. Roberts, Caitlin K. Rollins, Mark W. Russell, Martin Tristani-Firouzi, P. Ellen Grant, Kiho Im, Sarah U. Morton
Publicado no iScience (2025-02-01)

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome

Por Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel
Publicado no Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2024-02-01)

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Por W. 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
Publicado no Nature Communications (2025-07-01)

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure

Por Marlee M. Vandewouw, Ami Norris-Brilliant, Anum Rahman, Stephania Assimopoulos, Sarah U. Morton, Azadeh Kushki, Sean Cunningham, Eileen King, Elizabeth Goldmuntz, Thomas A. Miller, Nina H. Thomas, Heather R. Adams, John Cleveland, James F. Cnota, P Ellen Grant, Caren S. Goldberg, Hao Huang, Jennifer S. Li, Patrick McQuillen, George A. Porter, Amy E. Roberts, Mark W. Russell, Christine E. Seidman, Madalina E. Tivarus, Wendy K. Chung, Donald J. Hagler, Jane W. Newburger, Ashok Panigrahy, Jason P Lerch, Bruce D. Gelb, Evdokia Anagnostou
Publicado no NeuroImage (2024-08-01)

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

Por Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz
Publicado no npj Genomic Medicine (2024-12-01)