O40: Clinical utility of prenatal exome sequencing in a diverse cohort

Autor: Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100647- (2023)

Externí odkaz: https://doaj.org/article/87b1a6b74b4748028c09b94acd786c8b

Noninvasive prenatal screening and maternal malignancy: role of imaging

Autor: Priyanka Jha, Liesbeth Lenaerts, Joris Vermeesch, Mary Norton, Frédéric Amant, Phyllis Glanc, Liina Poder

Publikováno v: ABDOMINAL RADIOLOGY, 48(5), 1590-1598

Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnanc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8fd2a2dcef09ff4d22f2dabe32a79e
https://pure.amc.nl/en/publications/noninvasive-prenatal-screening-and-maternal-malignancy(168892d4-5760-4330-aee5-a35d7cd039bb).html

Report – Cost and Clinical Utility of WES and WGS in pediatric patients with suspected genetic disease

Autor: Michael P. Douglas, Patricia A. Deverka, Bruce Gelb, Bart Ferket, Kristen Hassmiller Lich, Hadley Stevens Smith, Mary Norton, Jonathan Berg, Anne Slavotinek, Lucia Hindorff, Kathryn Phillips

Payer coverage for Exome Sequencing (ES) is becoming commonplace (albeit in some cases with prior authorization restrictions), coverage for Genome Sequencing (GS) is rare, with most payers considering it as investigational and not medically necessary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c42902f60c2f405b347dd314d09938fb
https://doi.org/10.1101/2022.10.10.22280925

Adherence to and outcomes of a University-Consortium gastroschisis pathway

Autor: Daniel A. DeUgarte, Kara L. Calkins, Yigit Guner, Jae Kim, Karen Kling, Katelin Kramer, Hanmin Lee, Leslie Lusk, Payam Saadai, Cherry Uy, Catherine Rottkamp, Jamie Anderson, Aubrey Blanton, Nina Boe, Erin Brown, Michael Choy, Raymond Dougherty, Diana Farmer, Nancy Field, Laura Galganski, Hedriana Herman, Shinjiro Hirose, Gina James, Elyse Love, John McGahan, Amelia McLennan, Giselle Melendres, Francis Poulain, Amy Powne, Gary Raff, Laila Rhee Morris, David Schrimmer, Simran Sekhohn, Sherzana Sunderji, Veronique Tache, Melissa Vanover, Jay Yeh, M Baraa Allaf, Katie Bacca, Elizabeth Blumenthal, Kari Bruce, Lisa Carroll, Robert Day, Jennifer Duffy, David Gibbs, Afshan Hameed, Tamara Hatfield, Alexandra Iacob, Jennifer Jolley, Mustafa Kabeer, Nafiz Kiciman, Nancy Lee, Carol Major, Joshua Makhoul, Yona Nicolau, Elizabeth Patberg, Christina Penfield, Manuel Porto, Pamela Rumney, Valeria Simon, Lizette Spiers, Melissa Westermann, Peter Yu, Kara Calkins, Judith Chung, Ilina Datkhaeva, Daniel DeUgarte, Uday Devaskar, Jaime Deville, Rachel Gutkin, Carla Janzen, Howard Jen, Daniel Kahn, Suhas Kallapur, Steven Lee, Steven Lerman, Melanie Maykin, Aisling Murphy, Tina Nguyen, Victoria Niklas, Rashmi Rao, Gary Satou, Emily Scibetta, Mark Sklansky, Rebecca Stark, Katie Strobel, Renea Sturm, Khalil Tabsh, Afshar Yalda, Rebecca Adami, Laith Alshawabkeh, Tracy Anton, Jerasimos Ballas, Stephen Bickler, Divya Chhabra, Charlotte Conturie, Erika Fernandez, Aileen Fernando, Neil Finer, Andrew Hull, Diana Johnson, Leah Lamale-Smith, Louise Laurent, Frank Mannino, Dora Melber, Mishella Perez, Andrew Picel, Dolores Pretorius, Sandy Ramos, Diana Sanford, Maryam Tarsa, Vy Tran, Douglas Woelkers, Kathy Zhang-Rutledge, Katie Archbold, Victoria Berger, Paul Brakeman, Melissa Catenacci, Shilpa Chetty, Hillary Copp, Emily Edwards, Vickie Feldstein, Neda Ghaffari, Ruth Goldstein, Juan Gonzalez, Kristen Gosnell, Joanne Gras, Michael Harrison, Whitnee Hogan, Romobia Hutchinson, Roxanna Irani, Priyanka Jha, Roberta Keller, Maureen Kohi, Katherine Kosiv, Katie Kramer, Billie Lianoglou, Jennifer Lucero, Tippi MacKenzie, Anne Mardy, Erin Matsuda, Edward Miller, Anita Moon-Grady, Tara Morgan, Amy Murtha, Mary Norton, Natalie Oman, Benjamin Padilla, Shabnam Peyandi, Andrew Phelps, Liina Poder, Annalisa Post, Larry Rand, Naseem Rangwala, Frederico Rocha, Mark Rollins, Melissa Rosenstein, Janice Scudmore, Rachel Shulman, Dorothy Shum, Teresa Sparks, Jeffrey Sperling, Katherine Swanson, Martha Tesfalul, Stephanie Valderramos, Lan Vu, Amanda Yeaton-Massey, Lisa Arcilla, Stacie Bennett, Erin Corbett, Howard Rosenfeld

Publikováno v: Journal of Pediatric Surgery. 55:45-48

Our multi-institutional university consortium implemented a gastroschisis pathway in 2015 to standardize and improve care by promoting avoidance of routine intubation and paralysis during silo placement, expeditious abdominal wall closure, discontinu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebfa05e552a53f2d6d9e7bba5ec78704
https://doi.org/10.1016/j.jpedsurg.2019.09.048

Genetic variants account for up to one-third of cases of cerebral palsy

Autor: Mary Norton

Publikováno v: OBG Management. 33

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bccfd9761cbd7e897ee7cf7bcb42bdea
https://doi.org/10.12788/obgm.0090