Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Autor: Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-10 (2024)

Abstract Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via m

Externí odkaz: https://doaj.org/article/1cae7d21ad284d14ac384b8766a46a86

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families

Autor: Shabnam Peyvandi, Stacy Woyciechowski, Eitan M. Ingall, Elizabeth Goldmuntz, Jennifer Garbarini, Laura E. Mitchell

Publikováno v: American journal of medical genetics. Part A, vol 164A, iss 6

Current recurrence risk counseling for conotruncal cardiac defects (CTD) is based on empiric estimates from multiple studies. We examined the risk of congenital heart disease (CHD) in relatives of probands with CTDs to assist in counseling practices

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0d1b67131840c74eae7f8743599ec47
https://doi.org/10.1002/ajmg.a.36500

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

Autor: Lisa C.A. D'Alessandro, Jennifer Garbarini, Elizabeth Goldmuntz, Stacy Woyciechowski, Elaine H. Zackai, Shama Khan, Matthew A. Deardorff, Rebecca C. Ahrens-Nicklas

Publikováno v: American journal of medical genetics. Part A. 170(12)

Congenital heart defects (CHDs) are heterogeneous and present with a spectrum of severity, with roughly 25% of patients requiring intervention before age 1. The etiology of disease is unknown in many individuals; however, there is a rapidly expanding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d336c5afd963be58d32b0b259ea881eb
https://pubmed.ncbi.nlm.nih.gov/27605484

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

Autor: Jennifer Garbarini, Dianne Gallagher, Meghan K Mac Neal, Michelle Olive, Josée Dupuis, Emma Marquez, Jessica Tusi, Bruce D. Gelb, Mike Italia, Laura E. Mitchell, Roger E. Breitbart, Elaine Mardis, Lynn A. Sleeper, Gail D. Pearson, Nhu Tran, Cassie Mintz, Elizabeth Goldmuntz, Rosalind Korsin, Kristin E. Burns, Joel H. Saltz, Inga Peter, Denise Guevara, Stacy Woyciechowski, Howard S. Seiden, Hakon Hakonarson, Christine Beiswanger, Hector R. Wong, Steven D. Colan, Kimberly Dandreo, James Bristow, Davina Etwaru, Ellen Rosenberg, Ariel Julian, Jeffrey Botkin, George A. Porter, Richard B. Kim, Jennie Kline, Peter White, Christina Kendziorski, Barbara McDonough, Ismee A. Williams, Nancy Stellato, Ravi Sachidanandam, Clinical Sites, Vidu Garg, Minmin Lu, Katrina Celia, John E. Deanfield, Charlene Schramm, Dorothy Warburton, Juan Pablo Kaski, Amy E. Roberts, Maria M. Brooks, Abigail Wilpers, Martina Brueckner, Christine E. Seidman, Alyssa Lanz, Jeffrey C. Murray, Dorit Berlin, Jonathan R. Kaltman, Todd Evans, Judith Geva, Karen Flack, Sharon Edman, Angela Monafo, Jane Newburger, Jonathan G. Seidman, Angela Romano-Adesman, Eileen Taillie, Laura Mercer-Rosa, Janice Stryker, Jaswinder Kaur Sond, Nancy Cross, Sharon Tennstedt, Roslyn Yee, Michael S. Watson, Danielle Awad, Dorota Gruber, Richard P. Lifton, Alessandro Giardini, Wendy K. Chung

Publikováno v: Circulation research. 112(4)

Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6408621cef3c747ad56aa57c705bceb
https://pubmed.ncbi.nlm.nih.gov/23410879

RISK OF CONGENITAL HEART DISEASE IN RELATIVES OF PROBANDS WITH CONOTRUNCAL CARDIAC DEFECTS: AN EVALUATION OF 1622 FAMILIES

Autor: Shabnam Peyvandi, Elizabeth Goldmuntz, Eitan M. Ingall, Jennifer Garbarini, Stacy Woyciechowski, Laura E. Mitchell

Publikováno v: Journal of the American College of Cardiology. 61:E559

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ef15a73089817117c620f4388d4afd
https://doi.org/10.1016/s0735-1097(13)60559-8